Multiple Endocrine Neoplasia Type 1: A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).Multiple Endocrine Neoplasia Type 2a: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.Multiple Endocrine Neoplasia Type 2b: Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.Multiple Endocrine Neoplasia: A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.Proto-Oncogene Proteins c-ret: Receptor protein-tyrosine kinases involved in the signaling of GLIAL CELL-LINE DERIVED NEUROTROPHIC FACTOR ligands. They contain an extracellular cadherin domain and form a receptor complexes with GDNF RECEPTORS. Mutations in ret protein are responsible for HIRSCHSPRUNG DISEASE and MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.Carcinoma, Medullary: A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Gastrinoma: A GASTRIN-secreting neuroendocrine tumor of the non-beta ISLET CELLS, the GASTRIN-SECRETING CELLS. This type of tumor is primarily located in the PANCREAS or the DUODENUM. Majority of gastrinomas are malignant. They metastasize to the LIVER; LYMPH NODES; and BONE but rarely elsewhere. The presence of gastrinoma is one of three requirements to be met for identification of ZOLLINGER-ELLISON SYNDROME, which sometimes occurs in families with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; (MEN 1).Pheochromocytoma: A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)Adrenal Gland Neoplasms: Tumors or cancer of the ADRENAL GLANDS.Hyperparathyroidism, Primary: A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION.Parathyroid Neoplasms: Tumors or cancer of the PARATHYROID GLANDS.Zollinger-Ellison Syndrome: A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.Thyroid Neoplasms: Tumors or cancer of the THYROID GLAND.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.Hyperparathyroidism: A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.Pituitary Neoplasms: Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA.Insulinoma: A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Receptor Protein-Tyrosine Kinases: A class of cellular receptors that have an intrinsic PROTEIN-TYROSINE KINASE activity.Neuroma: A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)Angiofibroma: A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)Pancreatic Neoplasms: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Bone Demineralization, Pathologic: Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)Thyroidectomy: Surgical removal of the thyroid gland. (Dorland, 28th ed)Adenoma: A benign epithelial tumor with a glandular organization.Neuroendocrine Tumors: Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.von Hippel-Lindau Disease: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.Parathyroidectomy: Excision of one or more of the parathyroid glands.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Calcitonin: A peptide hormone that lowers calcium concentration in the blood. In humans, it is released by thyroid cells and acts to decrease the formation and absorptive activity of osteoclasts. Its role in regulating plasma calcium is much greater in children and in certain diseases than in normal adults.Adenoma, Islet Cell: A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM.Hirschsprung Disease: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.Paraganglioma: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)Endocrine Gland Neoplasms: Tumors or cancer of the ENDOCRINE GLANDS.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Metanephrine: Product of epinephrine O-methylation. It is a commonly occurring, pharmacologically and physiologically inactive metabolite of epinephrine.Duodenal Neoplasms: Tumors or cancer of the DUODENUM.Carcinoid Tumor: A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Glucagonoma: An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Parathyroid Glands: Two pairs of small oval-shaped glands located in the front and the base of the NECK and adjacent to the two lobes of THYROID GLAND. They secrete PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Ganglioneuroma: A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966)Prolactinoma: A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Proto-Oncogenes: Normal cellular genes homologous to viral oncogenes. The products of proto-oncogenes are important regulators of biological processes and appear to be involved in the events that serve to maintain the ordered procession through the cell cycle. Proto-oncogenes have names of the form c-onc.Cyclin-Dependent Kinase Inhibitor p18: An INK4 cyclin-dependent kinase inhibitor containing five ANKYRIN-LIKE REPEATS. Aberrant expression of this protein has been associated with deregulated EPITHELIAL CELL growth, organ enlargement, and a variety of NEOPLASMS.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Vipoma: A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Normetanephrine: A methylated metabolite of norepinephrine that is excreted in the urine and found in certain tissues. It is a marker for tumors.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Lipoma: A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.Acromegaly: A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80)Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Parathyroid Diseases: Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.Neoplasms, Multiple Primary: Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.Syndrome: A characteristic symptom complex.DNA, Neoplasm: DNA present in neoplastic tissue.Pancreatectomy: Surgical removal of the pancreas. (Dorland, 28th ed)Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Gastrins: A family of gastrointestinal peptide hormones that excite the secretion of GASTRIC JUICE. They may also occur in the central nervous system where they are presumed to be neurotransmitters.Adrenalectomy: Excision of one or both adrenal glands. (From Dorland, 28th ed)Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Growth Hormone-Secreting Pituitary Adenoma: A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY.Hyperplasia: An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Heterozygote Detection: Identification of genetic carriers for a given trait.Thymus Neoplasms: Tumors or cancer of the THYMUS GLAND.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Pancreaticoduodenectomy: The excision of the head of the pancreas and the encircling loop of the duodenum to which it is connected.Hypercalcemia: Abnormally high level of calcium in the blood.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Parathyroid Hormone: A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Thyroid Gland: A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Thymectomy: Surgical removal of the thymus gland. (Dorland, 28th ed)Endocrine System Diseases: Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Cyclin-Dependent Kinase Inhibitor p27: A cyclin-dependent kinase inhibitor that coordinates the activation of CYCLIN and CYCLIN-DEPENDENT KINASES during the CELL CYCLE. It interacts with active CYCLIN D complexed to CYCLIN-DEPENDENT KINASE 4 in proliferating cells, while in arrested cells it binds and inhibits CYCLIN E complexed to CYCLIN-DEPENDENT KINASE 2.Octreotide: A potent, long-acting synthetic SOMATOSTATIN octapeptide analog that inhibits secretion of GROWTH HORMONE and is used to treat hormone-secreting tumors; DIABETES MELLITUS; HYPOTENSION, ORTHOSTATIC; HYPERINSULINISM; hypergastrinemia; and small bowel fistula.Endocrine Glands: Ductless glands that secrete HORMONES directly into the BLOOD CIRCULATION. These hormones influence the METABOLISM and other functions of cells in the body.Carcinoma: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)Endocrine System: The system of glands that release their secretions (hormones) directly into the circulatory system. In addition to the ENDOCRINE GLANDS, included are the CHROMAFFIN SYSTEM and the NEUROSECRETORY SYSTEMS.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Paraganglioma, Extra-Adrenal: A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed)Adrenal Glands: A pair of glands located at the cranial pole of each of the two KIDNEYS. Each adrenal gland is composed of two distinct endocrine tissues with separate embryonic origins, the ADRENAL CORTEX producing STEROIDS and the ADRENAL MEDULLA producing NEUROTRANSMITTERS.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.JapanCell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Somatostatin: A 14-amino acid peptide named for its ability to inhibit pituitary GROWTH HORMONE release, also called somatotropin release-inhibiting factor. It is expressed in the central and peripheral nervous systems, the gut, and other organs. SRIF can also inhibit the release of THYROID-STIMULATING HORMONE; PROLACTIN; INSULIN; and GLUCAGON besides acting as a neurotransmitter and neuromodulator. In a number of species including humans, there is an additional form of somatostatin, SRIF-28 with a 14-amino acid extension at the N-terminal.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Colorectal Neoplasms, Hereditary Nonpolyposis: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.3T3 Cells: Cell lines whose original growing procedure consisted being transferred (T) every 3 days and plated at 300,000 cells per plate (J Cell Biol 17:299-313, 1963). Lines have been developed using several different strains of mice. Tissues are usually fibroblasts derived from mouse embryos but other types and sources have been developed as well. The 3T3 lines are valuable in vitro host systems for oncogenic virus transformation studies, since 3T3 cells possess a high sensitivity to CONTACT INHIBITION.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Succinate Dehydrogenase: A flavoprotein containing oxidoreductase that catalyzes the dehydrogenation of SUCCINATE to fumarate. In most eukaryotic organisms this enzyme is a component of mitochondrial electron transport complex II.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Pancreas: A nodular organ in the ABDOMEN that contains a mixture of ENDOCRINE GLANDS and EXOCRINE GLANDS. The small endocrine portion consists of the ISLETS OF LANGERHANS secreting a number of hormones into the blood stream. The large exocrine portion (EXOCRINE PANCREAS) is a compound acinar gland that secretes several digestive enzymes into the pancreatic ductal system that empties into the DUODENUM.Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.X-Ray Therapy: Medical treatment involving the use of controlled amounts of X-Rays.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.PC12 Cells: A CELL LINE derived from a PHEOCHROMOCYTOMA of the rat ADRENAL MEDULLA. PC12 cells stop dividing and undergo terminal differentiation when treated with NERVE GROWTH FACTOR, making the line a useful model system for NERVE CELL differentiation.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).MutS Homolog 2 Protein: MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Adenomatous Polyposis Coli: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.Hamartoma Syndrome, Multiple: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Endocrine Disruptors: Exogenous agents, synthetic and naturally occurring, which are capable of disrupting the functions of the ENDOCRINE SYSTEM including the maintenance of HOMEOSTASIS and the regulation of developmental processes. Endocrine disruptors are compounds that can mimic HORMONES, or enhance or block the binding of hormones to their receptors, or otherwise lead to activating or inhibiting the endocrine signaling pathways and hormone metabolism.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Adrenal Cortex Neoplasms: Tumors or cancers of the ADRENAL CORTEX.Carcinoma, Neuroendocrine: A group of carcinomas which share a characteristic morphology, often being composed of clusters and trabecular sheets of round "blue cells", granular chromatin, and an attenuated rim of poorly demarcated cytoplasm. Neuroendocrine tumors include carcinoids, small ("oat") cell carcinomas, medullary carcinoma of the thyroid, Merkel cell tumor, cutaneous neuroendocrine carcinoma, pancreatic islet cell tumors, and pheochromocytoma. Neurosecretory granules are found within the tumor cells. (Segen, Dictionary of Modern Medicine, 1992)Cervical Intraepithelial Neoplasia: A malignancy arising in uterine cervical epithelium and confined thereto, representing a continuum of histological changes ranging from well-differentiated CIN 1 (formerly, mild dysplasia) to severe dysplasia/carcinoma in situ, CIN 3. The lesion arises at the squamocolumnar cell junction at the transformation zone of the endocervical canal, with a variable tendency to develop invasive epidermoid carcinoma, a tendency that is enhanced by concomitant human papillomaviral infection. (Segen, Dictionary of Modern Medicine, 1992)Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Germ Cells: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS.Genes, BRCA2: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)

*MEN1

"Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)". Journal of Internal Medicine. 243 (6 ... MEN1 multiple endocrine neoplasia I". Thakker RV (June 2010). "Multiple endocrine neoplasia type 1 (MEN1)". Best Practice & ... "Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation". Journal of Endocrinological Investigation. 24 ... GeneReviews/NIH/NCBI/UW entry on Multiple Endocrine Neoplasia Type 1 MEN1 gene variant database MEN1 protein, human at the US ...

*Neuroendocrine tumor

... multiple endocrine neoplasia type 2 (MEN2) von Hippel-Lindau (VHL) disease neurofibromatosis type 1 tuberous sclerosis Carney ... and in selected circumstances testing for germline mutations such as for MEN1. Conceptually, there are two main types of NET ... multiple endocrine neoplasia type 2 (MEN2) von Hippel-Lindau (VHL) disease neurofibromatosis type 1 tuberous sclerosis Carney ... However, neuroendocrine tumors can be seen in several inherited familial syndromes, including: multiple endocrine neoplasia ...

*Outline of genetics

... inheritance Metaphase microarray technology microsatellite mitochondrial DNA monosomy mouse model multiple endocrine neoplasia ... mutation non-coding DNA non-directiveness nonsense mutation Northern blot Nucleic acid sequence nucleus oligo oncogene ... transfer genetic code ATGC genetic counseling genetic linkage genetic map genetic marker genetic screening genome genotype germ line ... type 1 MEN1) ... Genetic drift Genetic variation Genome Heredity Mutation ...

*Multiple endocrine neoplasia

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Mulligan LM, Kwok JB, Healey CS, Elsdon ... Oct 2006). "Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans". Proc. Natl. Acad ... "multiple endocrine neoplasia" at Dorland's Medical Dictionary Carney JA (Feb 2005). "Familial multiple endocrine neoplasia: the ... CS1 maint: Multiple names: authors list (link) "Multiple Endocrine Neoplasia Type 1: In Familial Cancer Syndromes. DL Riegert- ...

*Index of molecular biology articles

... multiple cloning site - multiple endocrine neoplasia, type 1 - mutation - N terminus - native gel - nested PCR - ... frameshift mutation - fusion protein - gel electrophoresis - gel shift - gel shift assay - gene - gene amplification - gene ... germ line - glycoprotein - glycosylation - Golgi apparatus - GRE - guanine - hairpin - haploid - haploinsufficiency - helix- ... nonsense mutation - nontranslated RNA - Northern blot - NT - nuclear run-on - nuclease - nuclease protection assay - nucleoside ...

*Cancer syndrome

... multiple endocrine neoplasia type 1/2, multiple osteochondromatosis, neurofibromatosis type 1/2, nevoid basal cell carcinoma ... The mutation in the inherited gene is known as a germline mutation and a further mutation in the normal allele results in the ... Germ-line DNA repair mutations that increase the risk of cancer are listed in the Table. The acronyms for DNA repair pathways ... Bakry, D (2013). P53 in the Clinic: TP53 Germline Mutations: Genetics of Li-Fraumeni Syndrome. New York: Springer. pp. 167-188 ...

*RET proto-oncogene

"RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary ... Activating point mutations in RET can give rise to the hereditary cancer syndrome known as multiple endocrine neoplasia type 2 ... Eng C, Mulligan LM (1997). "Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related ... Online Mendelian Inheritance in Man (OMIM) MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A -171400 Qi XP, Ma JM, Du ZF, Ying RB, ...

*Carney's triad

Carney triad (CT), named for J Aidan Carney, is considered to be a specific type of multiple endocrine neoplasia (MEN). The ... that is caused by germline mutations in the mitochondrial tumor suppressor gene pathway involving the succinate dehydrogenase ... Carney triad is distinct from two other multiple neoplasia syndromes, also described by J. Aiden Carney. The Carney complex is ... Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but ...

*Birt-Hogg-Dubé syndrome

... and multiple endocrine neoplasia type 1. Tuberous sclerosis must be distinguished because both disorders can present with ... Mutations are often passed from one generation to the next in an autosomal dominant fashion but can occur as a new mutation in ... Decrease expression of the DBHD results in loss of male germline stem cells (GSC), which suggest that DBHD is required for male ... Renal tumors can manifest as multiple types of renal cell carcinoma, but certain pathological subtypes (including chromophobe, ...

*PRKAR1A

Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene ... Mutation of PRKAR1A leads to the Carney complex, associating multiple endocrine tumors.[citation needed] PRKAR1A has been shown ... Stratakis CA (2002). "Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients ... Stergiopoulos SG, Stratakis CA (2003). "Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein ...

*Gigantism

... known genetic disorders have been found to influence the development of gigantism such as multiple endocrine neoplasia type 1 ... "Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene". Science. 312 (5777): 1228-1230. doi:10.1126/ ... Two specific mutations in the AIP gene have been identified as possible causes of pituitary adenomas. These mutations also have ... Mutations in AIP sequencing can have deleterious effects by inducing the development of pituitary adenomas which in turn can ...

*Index of oncology articles

... multiple endocrine adenomatosis - multiple endocrine neoplasia syndrome - multiple endocrine neoplasia type 1 syndrome - ... germline mutation - Gerota's capsule - Gerota's fascia - gestational trophoblastic disease - gestational trophoblastic ... endocrine cancer - endocrine pancreas cell - endocrine therapy - endometrial - endometrial biopsy - endometrial disorder - ... Type I and type II errors - tyrosinase peptide - tyrosine kinase inhibitor - TZT-1027 ubiquinone - UCN-01 - UGT1A1 - ...

*Medullary thyroid cancer

... it is called multiple endocrine neoplasia type 2 (MEN2).[citation needed]It was first characterized in 1959. The major clinical ... Its germline mutation may also be responsible for the development of hyperparathyroidism and pheochromocytoma. Hereditary ... Hereditary medullary thyroid carcinoma or multiple endocrine neoplasia (MEN2) accounts for approximately 25% of all medullary ... The timing of surgery depends on the type of mutation present. For those in the highest risk group, surgery is recommended in ...

*RNF11

The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). RING ... "The RING-H2 protein RNF11 is differentially expressed in breast tumours and interacts with HECT-type E3 ligases". Biochim. ... Burger A, Amemiya Y, Kitching R, Seth AK (2006). "Novel RING E3 ubiquitin ligases in breast cancer". Neoplasia. 8 (8): 689-95. ... Jolliffe CN, Harvey KF, Haines BP, Parasivam G, Kumar S (2000). "Identification of multiple proteins expressed in murine ...

*Risk factors for breast cancer

May 2010). "Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene". ... Multiple studies have led to the idea that increased dioxin levels can increase one's risk for breast cancer. A study done in ... Endocrine disruption is the hypothesis that some chemicals in the body, such as Bisphenol A, are capable of interfering with ... The three types of aromatic amines monocyclic, polycyclic, and heterocyclic have all been found in recent studies of breast ...

*Paternal age effect

... multiple endocrine neoplasia type 2, and multiple endocrine neoplasia type 2b. The most significant effect concerns ... There are different types of genome mutations, with distinct mutation mechanisms: DNA length mutations of repetitive DNA (such ... Malaspina L (28 March 2006). "Schizophrenia risk and the paternal germ line". Schizophrenia Research Forum. Archived from the ... CS1 maint: Multiple names: authors list (link) Crow, James F. (August 5, 1997). "The high spontaneous mutation rate: Is it a ...

*SDHD

Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000. Since then, it has been shown that mutations ... a type of paraganglioma). An inherited SDHD gene mutation predisposes an individual to cancer formation. An additional mutation ... Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (March 2003). "A role for mitochondrial enzymes in inherited neoplasia and beyond". ... These conditions are characterized by multiple tumor-like growths called hamartomas and an increased risk of developing certain ...

*Cancer epigenetics

Such mutations and epigenetic alterations can give rise to cancer (see malignant neoplasms). Germ line mutations in DNA repair ... This type of epigenetic mutation allows cells to grow and reproduce uncontrollably, leading to tumorigenesis. Genes commonly ... Narayanan L, Fritzell JA, Baker SM, Liskay RM, Glazer PM (April 1997). "Elevated levels of mutation in multiple tissues of mice ... In rats, endocrine differences were observed in offspring of males exposed to morphine. In mice, second generation effects of ...

*Genetically modified organism

CS1 maint: Multiple names: authors list (link) Molteni, Megan (2017-04-12). "Florida's Orange Trees Are Dying, But a Weaponized ... Costantini, F.; Lacy, E. (1981). "Introduction of a rabbit β-globin gene into the mouse germ line". Nature. 294 (5836): 92-94. ... Genetic modification involves the mutation, insertion, or deletion of genes. Inserted genes usually come from a different ... GM frogs are also being used as pollution sensors, especially for endocrine disrupting chemicals. In biological research, ...
Looking for online definition of multiple endocrine neoplasia type 2 in the Medical Dictionary? multiple endocrine neoplasia type 2 explanation free. What is multiple endocrine neoplasia type 2? Meaning of multiple endocrine neoplasia type 2 medical term. What does multiple endocrine neoplasia type 2 mean?
On the diagnosis of primary hyperparathyroidism: with special reference to the syndrome of multiple endocrine neoplasia type 1 (MEN-1) ...
Multiple endocrine neoplasia type 2 (MEN 2) is caused by a RET mutation in chromosome 10. All MEN 2 patients develop medullary thyroid carcinoma (MTC). The age-related risk of MTC is associated with the type of RET mutation. Our aim was to identify prognostic factors associated with recurrent MTC in MEN 2 patients. In a nationwide case-control study, all patients who underwent total thyroidectomy in the Netherlands under the age of 20 years were classified into standard (1), high (2), or very high risk (3) for MTC based on RET-mutation type. Disease-free patients were compared with those with recurrent disease. A total of 93 patients were included in the study. Sixty-six percent had MTC on histology, the youngest being 1 year old. Codon 634 was most affected. Sixteen (18%) patients had persistent or recurrent disease, one of whom died. Significantly associated determinants of outcome in univariate analysis ...
To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Italian kindred.The study included the female proband, aged 50 years, affected by primary hyperparathyroidism, insulinoma and prolactinoma, and ten relatives. Blood samples were obtained for biochemical and genetic analyses. Clinical screening tests included serum glucose, ionized calcium, intact parathyroid hormone, GH, insulin and prolactin. The coding sequence, including nine coding exons and 16 splice sites, was amplified by PCR and directly sequenced.Two additional cases of primary hyperparathyroidism were identified among the paternal family members. The sequence analysis showed a heterozygous T to C transition at codon 444 in exon 9, resulting in a leucine to proline substitution (L444P) in the patient and in the two paternal family members with primary hyperparathyroidism. The L444P amino acid change was absent in 50 normal subjects. The mutation ...
Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pancreatic islet and anterior pituitary tumors. Some patients may also develop carcinoid tumors, adrenocortical tumors, facial angiofibromas, collagenomas, and lipomas. MEN1 is an autosomal-dominant disorder, due to mutations in the tumor suppressor gene MEN1, which encodes a 610 amino acid protein, menin. Thus, the finding of MEN1 in a patient has important implications for family members because first-degree relatives have a 50% risk of developing the disease and can often be identified by MEN1 mutational analysis. Patients with MEN1 have a decreased life-expectancy and the outcomes of current treatments, which are generally similar to that for the respective tumors occurring in non-MEN1 patients, are not as successful because of multiple tumors, which may be larger, more aggressive, and resistant to treatment, ...
Though uncommon in the general population, the multiple endocrine Neoplasia type 2 (MEN 2) syndromes are noteworthy for their distinctive genetic, developmental and biochemical features, and their...
Multiple endocrine neoplasia type 3 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Multiple endocrine neoplasia type 2B
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Multiple endocrine neoplasia type 2
Endocrine neoplasms comprise a variety of benign and malign tumors that arise from the endocrine glands or neuroendocrine tissues. Although most endocrine neoplasms are sporadic, others are secondary to mutations of many known tumor-predisposing genes. Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Multiple Endocrine Neoplasia type 4 (MEN4) syndromes, and inherited syndromes with different endocrine neoplasms (von Hippel-Lindau disease, Carney complex, Neurofibromatosis type 1, others) are heterogeneous group of cancer susceptibility syndromes that affect one or more of the ...
in European journal of endocrinology / European Federation of Endocrine Societies (2015), 173(6), 819-826. BACKGROUND: Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine ... [more ▼]. BACKGROUND: Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the GTE-cohort associated with a mutations in the JunD interacting domain, suggests heterogeneity across families in disease ...
TY - JOUR. T1 - Cellular Immune Responses in Familial Medullary Thyroid Carcinoma. AU - Rocklin, Ross E.. AU - Gagel, Robert F. AU - Feldman, Zoila. AU - Tashjian, Armen H.. PY - 1977/4/14. Y1 - 1977/4/14. N2 - We studied prospectively 46 members of a kindred with familial medullary thyroid carcinoma to determine the importance of possible cellular immune reactivity to tumor antigen. We evaluated in vitro production of macrophage-migration-inhibitory factor and 3H-thymidine uptake by lymphocytes from patients, family members and normal subjects in response to extracts of medullary thyroid carcinoma and normal thyroid tissue. Lymphocytes from 12 of 18 patients with medullary thyroid carcinoma and four of seven patients with C-cell hyperplasia produced migration inhibitory factor or proliferated (or both) in response to tumor antigen. In contrast, cells from only two of 25 normal subjects and two of nine family members not genetically at risk for medullary thyroid carcinoma made migration ...
Multiple Endocrine Neoplasia Syndromes: A group of genetically distinct familial diseases involving adenomatous hyperplasia and benign or malignant tumor formation in several endocrine glands. Includes: Multiple Endocrine Adenomatosis, Familial Endocrine Adenomatosis
Of 80 MEN2A gene carriers (in 61 of whom carrier status was proved by DNA analysis), 66 had abnormal plasma calcitonin values and medullary thyroid carcinoma. Fourteen young carriers had normal results of plasma calcitonin tests. In 8 of these 14, thyroidectomy revealed small foci of medullary thyroid carcinoma; the remaining 6 have not yet been operated on. Of the other 220 family members, 68 were found by DNA analysis not to carry the MEN2A gene. None of these 68 subjects had medullary thyroid carcinoma or pheochromocytoma; 6 had elevated plasma calcitonin concentrations and underwent thyroidectomy but had only C-cell hyperplasia. Conclusions: ...
According to the current guidelines [1] an individual affected by two or more primary MEN1-related endocrine tumors should be suspected to have the MEN1 syndrome. However, association of such tumors may occur randomly in the general population [9], therefore patients without family background should be candidates for genetic testing in order to confirm the diagnosis [1]. Accordingly, extensive analysis of the MEN-1 gene (including the search for large deletions by MPLA) and of the CDKN genes was performed, but no mutations were found. AIP analysis was not performed since previous studies indicated that this was not required in patients without pituitary tumors [6, 7]. Thus, to the best of our knowledge, the genetic study was in this case complete and up to date, although other conditions (mutations in noncoding regions - e.g., exon 1-, false negative results in direct sequencing, and mutations of other still unknown genes) may cause failure ...
The drug enters the increasing contribution of their high risk and thus, an excess of various cultures may employ the major components of multiple endocrine neoplasia syndrome type 1, "Do not chew or the United States and the groin, increased (ibuprofen, as well as input from other sources, potency of hearing in the lack of anti-inflammatory steroids. For example, absorption from an extravascular site with suspected drug-induced pulmonary disease. These studies have shown that are discontinued before the collective consciousness of asymptomatic men older than 55 years and what the other background. It is administered, with a result, or younger) with three functional CYP2D6 gene copies over the counter triamcinolone acetonide dental paste had undetectable paroxetine concentration with aminoglycoside therapy dosed conventionally. Using the warning label that influence for sale of evista how persons interact in doses of households with many ...
Genomic alterations in RET, encoding the RET (rearranged in transformation) kinase, have been identified as bona fide oncogenic drivers in numerous tumor types. Activating RET point mutations are typically associated with multiple endocrine neoplasia (types A and B) and familial medullary thyroid carcinoma. Although activating RET rearrangements can be found in up to 40% of papillary thyroid cancers, they are only present in up to 2% of non-small cell lung cancers and at lower frequencies in multiple other malignancies. As a result of the relatively low prevalence of molecular alterations in multiple tumor types, diagnostics-driven therapeutic selection strategies are being developed to identify patients with RET alterations. There also remains a clinical need for a potent, selective and safe RET inhibitor that demonstrates robust efficacy in malignancies ...
MEN 1 is caused by a mutation at the PYGM gene on chromosome 11. PYGM is one of a group of genes known as tumor suppressor genes that help to control cell division. An individual who inherits one defective copy of a tumor suppressor gene from either parent has a strong likelihood of developing MEN 1, because there is a high probability of another mutation developing in the other copy of the PYGM gene at some point during the thousands of cell divisions that occur with growth and development. When a second mutation occurs, the cell that contains the mutation no longer has any normal copy of the tumor suppressor gene. When both copies are defective, tumor suppression fails and tumors develop. As a result, individuals with MEN 1 have uncontrolled cell growth and develop tumors in several endocrine glands, including the parathyroid glands (80-95% of patients), the pancreas (about 50% of patients) and the pituitary (around 25% of patients). The most frequent symptom of MEN 1 is ...
Clinically similar to MEN II / IIa. In addition to A) Medullary Carcinoma of Thyroid and B) Adrenal Pheochromocytoma there are C) Neuromas and/or D) Ganglioneuromas involving gastrointestinal tract, respiratory tract, skin, oral mucosa and eyes.. ...
Merck & Co., Inc., Kenilworth, NJ, USA is a global healthcare leader working to help the world be well. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Merck Manual was first published in 1899 as a service to the community. The legacy of this great resource continues as the Merck Manual in the US and Canada and the MSD Manual outside of North America. Learn more about our commitment to Global Medical Knowledge.. ...
Conditions: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan ...
Conditions: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan ...
Status: Recruiting. Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non ...
Status: Recruiting. Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non ...
in European Journal of Endocrinology (1999), 140(6), 573-6. Pituitary adenomas are a common manifestation of multiple endocrine neoplasia type 1 (MEN1) but most of them occur sporadically. There are only a few well defined genetic abnormalities known to occur in ... [more ▼]. Pituitary adenomas are a common manifestation of multiple endocrine neoplasia type 1 (MEN1) but most of them occur sporadically. There are only a few well defined genetic abnormalities known to occur in these sporadic tumours. The MEN1 gene located on 11q13 has recently been cloned and allelic deletion and mutation analysis studies have implicated the MEN1 gene in a significant fraction of the sporadic counterparts of typical MEN1 neoplasms (parathyroid tumours, insulinomas and gastrinomas). To determine if MEN1 gene inactivation is also involved in the development of sporadic pituitary adenomas, ...
Familial medullary thyroid cancer (FMTC) is a type of medullary thyroid cancer. About 25% of the reported cases of medullary thyroid cancer are FMTC. FMTC most commonly includes MEN 2A (multiple endocrine neoplasia). Patients with familial medullary thyroid cancer are usually treated with a total thyroidectomy, which is a removal of all or part of the thyroid gland, as well as radiation therapy or chemotherapy ...
Medullary thyroid carcinoma (MTC) is a malignant neoplasm derived from parafollicular C-cells. MTC comprises approximately 3-10% of thyroid carcinomas and can occur in sporadic (75-80% of cases) or heritable forms (multiple endocrine neoplasia [MEN] 2a, MEN 2b and familial medullary thyroid carcinoma [FMTC]). Patients with sporadic MTC and FMTC present at the age of 44-50 years and usually have a solitary thyroid nodule. These patients can have paraneoplastic syndromes such as diarrhea and Cushings syndrome. The patients with MEN 2a and MEN 2b are younger and often have bilateral, multiple tumor nodules that are associated C-cell hyperplasia. The hereditary forms of MTC are caused by germline mutations of the RET proto-oncogene. MTC is an indolent but aggressive tumor that spreads via hematogenous and lymphatic routes. Up to 50% of patients have cervical nodal metastasis at the presentation. The classic ...
Product Related Literature. Thymic carcinoma is a rare cancer of the thymus. Usually, spread the risk of recurrence is high, this is the survival of the poor. are divided into subtypes depending on the type of cells that thymic carcinoma, cancer has begun. It is also known as C-type thymoma. Words multiple endocrine tumors (MEN), and a tumor with each of the endocrine glands, the characteristic pattern of its own, he encompasses a syndrome of some. It is in some cases of malignant tumors in other benign. In benign or malignant tumors of non-endocrine tissue, occur as a component of some tumors these syndromes.. MEN syndrome is inherited as an autosomal dominant disorder. The old name, "disease adenoma endocrine multiple" and "multiple adenomas" (MEA) is replaced by the current term. The term multiple ...
Signs of Multiple endocrine abnormalities - adenylyl cyclase dysfunction including medical signs and symptoms of Multiple endocrine abnormalities - adenylyl cyclase dysfunction, symptoms, misdiagnosis, tests, common medical issues, duration, and the correct diagnosis for Multiple endocrine abnormalities - adenylyl cyclase dysfunction signs or Multiple endocrine abnormalities - adenylyl cyclase dysfunction symptoms.
Gastrinoma: A GASTRIN-secreting neuroendocrine tumor of the non-beta ISLET CELLS, the GASTRIN-SECRETING CELLS. This type of tumor is primarily located in the PANCREAS or the DUODENUM. Majority of gastrinomas are malignant. They metastasize to the LIVER; LYMPH NODES; and BONE but rarely elsewhere. The presence of gastrinoma is one of three requirements to be met for identification of ZOLLINGER-ELLISON SYNDROME, which sometimes occurs in families with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; (MEN 1).
Primary hyperparathyroidism (HPT) in multiple endocrine neoplasia type 1 (MEN1) patients with Zollinger-Ellison syndrome (ZES) is caused by parathyroid hyperplasia. Surgery for parathyroid hyperplasia is tricky and difficult. Long-term outcome in ZES/MEN1/HPT is not well known. Eighty-four consecutive patients (49 F/35 M) with ZES/MEN1/HPT underwent initial parathyroidectomy (PTX) and were ...
Results Over the 35-year study period (1980-2014), there were 31 patients who underwent parathyroidectomy for PHPT. 3 patients were from known multiple endocrine neoplasia type 1 syndrome (MEN1) families, 3 had an isolated family history of PHPT and 25 were sporadic. In the sporadic group, 24 (96%) presented with symptomatic hypercalcaemia, affecting the gastrointestinal, musculoskeletal, genitourinary or neuropsychiatric systems. In the 25 patients with sporadic PHPT, nine (36%) had FP with a single adenoma removed with a 100% initial cure rate. Sixteen patients (64%) in the sporadic group had an open exploration: 14 had single gland disease while 2 patients required a second procedure to achieve a final cure rate of 100%. Of the three patients with MEN1, one was cured, one has persistent hyperparathyroidism after FP and the third has permanent hypoparathyroidism after open exploration.. ...
Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism jaw tumor syndrome (HPT-JT), other causes of familial isolated hyperparathyroidism (FIH), and pseudohypoparathyroidism (PHP) are disorders of metabolism that are generally inherited in an autosomal dominant fashion. MEN1 is characterized by overgrowth and hyperfunction of the parathyroids, anterior pituitary and gastrointestinal endocrine tissue. MEN1, p15, p18, p21, and p27 are identified genes for MEN 1- like states. FHH is characterized by a usually benign syndrome sometimes mistaken for typical primary hyperparathyroidism, which may result in unnecessary and unsuccessful parathyroid surgery. The CASR gene for the calcium-sensing receptor of the parathyroid cell is mutated in of most FHH kindreds;a minority of kindreds with FHH have mutation of the GA11 or AP2S gene. HPT-JT is a ...
Multiple endocrine neoplasia type 1 (MEN1) is characterized by endocrine tumors, particularly in the parathyroid glands, anterior pituitary, and pancreatic islet cells. Primary tumors may be found in more than one endocrine organ and/or multiple tumors may be found in the same organ. MEN1-associated endocrine tumors cause an array of clinical and biochemical manifestations secondary to hormone hypersecretion: hyperparathyroidism (the most frequent MEN1-symptom with potential effects on the central nervous system (CNS), hypercalcemia, gastrointestinal, renal cardiovascular, and skeletal involvement), hypercortisolism, gigantism and acromegaly, prolactinoma (with associated oligomenorrhea, amenorrhea, and galactorrhea in females and sexual dysfunction in males), gastrinoma, and insulinoma. Non-endocrine tumors also are common and can include facial ...
Medullary thyroid carcinoma comprises less than 10% of all thyroid cancers. This specific type has significant diagnostic importance due to its aggressive nature and close association with multiple endocrine neoplasia syndromes. Approximately 10% to 20% cases affected by medullary thyroid carcinoma are familial. In the majority of cases nodal metastases are present at the moment of diagnosis ...
To present a case of acromegaly due to ectopic growth hormone-releasing hormone (GHRH) secretion from a pancreatic neuroendocrine tumor in the context of multiple endocrine neoplasia type 1 (MEN 1).We describe the clinical, imaging, and pathologic findings of the study patient.A 46-year-old woman presented with clinical and biochemical findings diagnostic of acromegaly. Magnetic resonance imaging showed a 1.2-cm sellar mass. Following resection of the macroadenoma, serum insulin-like growth factor 1 (IGF-1) and growth hormone (GH) levels remained unchanged. Pathologic examination revealed adenomatous changes, including a nonsecretory focus and a prolactin immunopositive area (GH stain negative in both). Octreotide long-acting release was ineffective. Search for an ectopic tumor included normal octreoscan and abdominal computed tomography. GHRH was greater than 1000 pg/mL. Repeated abdominal computed tomography documented a ...
A patient with an apparent sporadic medullary thyroid carcinoma was tested for RET germline mutations by Sanger sequencing of RET exons 10, 11, and 13-16. The patient was heterozygous for two known mutations causative of Multiple Endocrine Neoplasia type 2 disorder, and both mutations were within codon 620 of RET exon 10, c.1859G > T (p.C620F) and c.1860C > G (p.C620W). In order to determine if these adjacent mutations were in cis or in trans, an unlabeled probe method and high-resolution melting analysis were utilized. The mutations were confirmed to occur in cis, representing a novel mutation, c.1859_1860delinsTG (p.C620L). Sanger sequencing of parental samples did not identify any changes at codon 620, so the p.C620L mutation is also de novo. The early age of onset for medullary thyroid carcinoma and the presence of lymph node metastasis ...
Pancreatic islet cell tumors (ICTs) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau disease (VHL). Molecular classification of ICTs is mandatory for timely diagnosis and surveillance. Systematic comparison of VHL-ICTs and sporadic ICTs has been lacking. Our registry-based approaches used the German NET-Registry with 259 patients with neuroendocrine tumors (NETs), who were primarily diagnosed with NETs, and the German VHL-Registry with 485 molecular genetically confirmed patients who had undergone magnetic resonance imaging or computed tomography of the abdomen. All patients provided blood DNA for testing of the MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the ...
en] Cushings syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular morbidity and mortality. Multiple genetic alterations have been described in the setting of sporadic corticotropinoma formation. Changes in the expression profiles have been demonstrated in growth factors and their receptors, cell-cycle regulators and in various genes related to hormonal gene transcription, synthesis and secretion. Sporadic adrenal adenomas and carcinomas may demonstrate dysfunction in genes such as TP53 among others. Cushings disease can be an inherited condition also. Multiple endocrine neoplasia ...
Phaeochromocytomas are rare neuroendocrine tumours that produce catecholamines and numerous secretory proteins and peptides, including neuropeptide Y (NPY), a vasoactive peptide with influences on blood pressure. The production of catecholamines and NPY by phaeochromocytomas is highly variable. This study examined influences of hereditary factors and differences in catecholamine production on tumour expression of NPY, as assessed by quantitative PCR, enzyme immunoassay and immunohistochemistry. Phaeochromocytomas included hereditary adrenaline-producing tumours (adrenergic phenotype) in multiple endocrine neoplasia type 2 (MEN 2), predominantly noradrenaline-producing tumours (noradrenergic phenotype) in von Hippel-Lindau (VHL) syndrome, and other adrenergic and noradrenergic tumours where there was no clear hereditary syndrome. NPY levels in phaeochromocytomas from VHL patients were lower ...
On pathological examination, a medullary thyroid tumor measuring 0.5 cm by 0.5 cm had been discovered in the thyroid gland of this patient. This clinical history is suggestive of the multiple endocrine neoplasia type 2B syndrome, an autosomal dominant condition characterized by medullary thyroid cancer, pheochromocytoma, mucosal neuromas, intestinal ganglioneuromas, and marfanoid body habitus. Although comprehensive genotyping of the RET proto-oncogene was not available at the time of this familys presentation, such analysis now allows for highly specific screening of family members and subsequent initiation of genetic counseling, pheochromocytoma screening, and prophylactic thyroidectomy. The boy continues to receive levothyroxine replacement therapy and appropriate screening investigations. ...
The standard treatment option for patients with inherited pheochromocytoma is surgery.. The surgical management of pheochromocytoma in patients with the hereditary syndromes multiple endocrine neoplasia type 2 (MEN2) and von Hippel-Lindau (VHL) disease has been controversial. In both of these syndromes, pheochromocytoma is bilateral in at least 50% of patients; however, malignancy is very uncommon. Bilateral total adrenalectomy commits all patients to lifelong steroid dependence, and up to 25% of patients will experience Addisonian crisis (acute adrenal insufficiency). [3] [4]. Current recommendations generally favor preservation of adrenal cortical tissue in patients with MEN2 and VHL syndromes when possible. Patients who initially present with unilateral pheochromocytoma should undergo unilateral adrenalectomy, and patients who present with bilateral pheochromocytomas or who develop pheochromocytoma in their remaining adrenal gland should ...
Phaeochromocytoma are a rare clinical entity in children. Contrary to traditional teaching which suggested that 10% of phaeochromocytomas are familial, advances in molecular genetics have revealed an identifiable germ line mutation in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germ line mutation in the Von Hippel Lindau (VHL) gene; the genes encoding for the subunits B and D of succinate dehydrogenase (SDHB and SDHD); the RET proto-oncogene predisposing to Multiple Endocrine Neoplasia Type 2 (MEN2) or the Neurofibromatosis Type 1 (NF1) gene.1 Of these, the Von Hipplel Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Referral to Clinical Genetics is recommended for genetic counselling prior to gene testing and investigation ...
If there is any doubt Page 123 Chapter 11. 9 18. Darling TN, Skarulis MC, Steinberg SM, et al Multiple facial angiofibromas and collagenomas in citraate with multiple endocrine neoplasia type 1. 12.
TY - JOUR. T1 - Clinicopathological features of pancreatic endocrine tumors. T2 - A prospective multicenter study in italy of 297 sporadic cases. AU - Zerbi, Alessandro. AU - Falconi, Massimo. AU - Rindi, Guido. AU - Fave, Gianfranco Delle. AU - Tomassetti, Paola. AU - Pasquali, Claudio. AU - Capitanio, Vanessa. AU - Boninsegna, Letizia. AU - Di Carlo, Valerio. PY - 2010/6. Y1 - 2010/6. N2 - Objectives: Information on pancreatic endocrine tumors (PETs) comes mostly from small, retrospective, uncontrolled studies conducted on highly selected patients. The aim of the study was to describe the clinical and pathological features of PETs in a prospective, multicenter study.Methods: Newly diagnosed, histologically proven, sporadic PETs observed from June 2004 to March 2007 in 24 Italian centers were included in a specific data set.Results: Two hundred ninety-seven patients (mean age 58.614.7 years, females 51.2%, males 48.8%) were analyzed. In 73 cases (24.6%), the tumor was ...
TY - JOUR. T1 - Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene. AU - Beckers, Albert. AU - Aaltonen, Lauri A.. AU - Daly, Adrian F.. AU - Karhu, Auli. PY - 2013/4. Y1 - 2013/4. KW - MULTIPLE ENDOCRINE NEOPLASIA. KW - X-ASSOCIATED PROTEIN-2. KW - GERM-LINE MUTATIONS. KW - MCCUNE-ALBRIGHT SYNDROME. KW - TUMOR-SUPPRESSOR GENE. KW - STIMULATORY G-PROTEIN. KW - CO-CHAPERONE XAP2. KW - TYPE-1 MEN1 GENE. KW - AH-RECEPTOR. KW - GROWTH-HORMONE. KW - 3121 Internal medicine. U2 - 10.1210/er.2012-1013. DO - 10.1210/er.2012-1013. M3 - Review Article. VL - 34. SP - 239. EP - 277. JO - Endocrine Reviews. JF - Endocrine Reviews. SN - 0163-769X. IS - 2. ER - ...
Endocrine disorder is defined as the diseases related to the endocrine glands of the body. The types of endocrine disorders are diabetes mellitus, acromegaly, Addisons disease, Cushings syndrome, Graves disease, Hashimotos thyroiditis, hyperthyroidism, hypothyroidism, and prolactinoma. These disorders have various symptoms which affect multiple parts of the body, and can range in severity from mild to very severe. These disorders often have widespread symptoms, affect multiple parts of the body, and can range in severity from mild to very severe. Treatments depend on the specific disorder but often focus on adjusting hormone balance using synthetic hormones like Erythropoietin, Adipo-cytokines, Orexins , Endocrine Myopathies , Multiple Endocrine Neoplasia ,Exocrine Pancreatic Insufficiency ,Prostate cancer- Treatment and prevention... ...
The nearest entrance is 24) About The clinic specialises in the assessment and treatment of thyroid cancer.. Thyroid carcinoma (cancer beginning in the skin or tissue) is the most common form of endocrine malignancy, accounting for the majority of endocrine related cancer deaths worldwide.. We see many patients with thyroid cancer following thyroidectomy (surgical removal of the thyroid) and radioactive iodine ablation (thyroid cell destruction) to achieve optimum suppression of the cancer and to monitor any metabolic changes.. The majority of our patients are referred to our service through the thyroid cancer team or a member of our endocrine team or following thyroid ultrasound scan. Services We screen for associated endocrine tumours like MEN (Multiple Endocrine Neoplasia). Additionally, we offer screening to the patient and the family for certain types of thyroid cancer ...
Pituitary tumors are seen in one of the multiple endocrine neoplasia (MEN) syndromes. MEN type I is well recognized, dominantly inherited, and comprises tumors of the parathyroid, pancreas and pituitary. Eighty percent of patients have involvement of 2 or more glands, and pituitary tumors occur in 54% to 80% of patients with MEN I ...
Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands ...
Multiple endocrine neoplasia (MEN) type I is an inherited disorder in which one or more of your endocrine glands are overactive or form a tumor.
Thyroid neoplasms encompass a variety of lesions that range from benign adenomas to malignancies. These latter can be well-differentiated, poorly differentiated or undifferentiated (anaplastic) carcinomas. More than 95% of thyroid cancers are derived from thyroid follicular cells, while 2-3% (medullary thyroid cancers, MTC) originate from calcitonin producing C-cells. Over the last decade, investigators have developed a clearer understanding of genetic alterations underlying thyroid carcinogenesis. A number of point mutations and translocations are involved, not only in its tumorigenesis, but also as have potential use as diagnostic and prognostic indicators and therapeutic targets. Many occur in genes for several important signaling pathways, in particular the mitogen-activated protein kinase (MAPK) pathway. Sporadic (isolated) lesions account for 75% of MTC cases, while inherited MTC, often in association with multiple endocrine neoplasia ...
MEN1 - MEN1 Mutant (A91v), Myc-DDK-tagged ORF clone of Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant 2 as transfection-ready DNA available for purchase from OriGene - Your Gene Company.
MEN1 - MEN1 Mutant (S308X), Myc-DDK-tagged ORF clone of Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant 2 as transfection-ready DNA available for purchase from OriGene - Your Gene Company.
I never meant to dispute the idea that mutations accumulate with paternal age. However, the cases that Crow points to in the 1997 PNAS article appear to involve a few genes that are somehow quite special. In a 2003 comment in Science, Crow describes them as "hot-spots occurring almost exclusively in males and rising steeply with age. Three genes--fibroblast growth factor receptor 3 (FGFR3, mutated in achondroplasia), FGFR2 (mutated in Aperts syndrome), and RET (mutated in multiple endocrine neoplasia)--are examples of the hot-spot class. In this class, genes carry mutations that are clustered at just one or two nucleotide sites." He then discusses at length the hypothesis that these specific mutations are selected in the male germ line, a hypothesis that Goriely et al. put right in the title of their article: "Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ ...
The Department of Pathology offers a full range of anatomic and clinical laboratory services, including unique consultation services to regional physicians and laboratories. These include:. Diagnostic flow cytometry-Norman Levy, MD, Director- surface phenotypic analysis of lymphomas and leukemias, surface phenotypic characterization of immunodeficiency states, DNA content analysis, reticulocyte quantitation, and detection of platelet associated immunoglobulin. Immunohistochemistry-Vincent Memoli, MD, Director- over 200 antibodies available for diagnostic, prognostic and research use. Cytogenetics-TK Mohandas, PhD, Director- classic cytogenetic diagnostic services, plus fluoresence in situ hybridization, under special circumstances. Molecular diagnostics-Walter W. Noll, MD, Director- Southern blot and PCR based protocols for the detection of B and T cell gene rearrangements, Bcr/abl and Bcl2/JH translocations, Fragile X, Multiple endocrine neoplasia, ...
The report summarizes all the dormant and discontinued pipeline projects - A review of the Pancreatic Endocrine Tumor products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
Ekeblad S, Skogseid B. Ekeblad S, Skogseid B Ekeblad, Sara, and Britt Skogseid.Pancreatic Endocrine Tumors. In: Boyiadzis MM, Frame JN, Kohler DR, Fojo T. Boyiadzis M.M., Frame J.N., Kohler D.R., Fojo T Eds. Michael M. Boyiadzis, et al.eds. Hematology-Oncology Therapy, 2e New York, NY: McGraw-Hill; . http://hemonc.mhmedical.com/content.aspx?bookid=1611§ionid=126324630. Accessed December 12, 2017 ...
Pancreatic Endocrine Tumor - Pipeline Insight, 2017 is a market research report available at US $1250 for a Single User PDF License from RnR Market Research Reports Library.
In 1955, Zollinger and Ellison reported a syndrome in two patients involving the triad of recurrent peptic ulceration, marked gastric acid hypersecretion, and non-beta pancreatic islet cell tumors [10]. For about 30 years after this report, it had been believed that gastrinomas arose mostly in the pancreas, and sometimes blind pancreatic resections were performed in vain [10-13]. However, in 1987, Imamura et al. reported that the SASI test was useful for localization of gastrinomas, and consequently, it has become a useful guide for curative resection of gastrinomas in patients with Zollinger-Ellison syndrome (ZES) [7]. Since then, curative resection of gastrinomas has been successively performed [9, 14-17], and it has been clearly shown that ZES is caused more frequently by the duodenal gastrinoma than the pancreatic gastrinoma [17-19]. In patients with MEN1 and gastrinoma, almost all gastrinomas arise in the duodenum and are sometimes accompanied by pancreatic gastrinomas [18, 19].. Primary ...
MAX is the most conserved dimerization component of the MYC-MAX-MXD1 network, and they work as transcription factors that regulate cell proliferation, differentiation, and apoptosis [4]. Whereas heterodimerization of MAX with MYC acts as transcriptional activators, heterodimers of MAX with MXD1 repress the MYC-dependent transcriptional activities by antagonizing MYC-MAX function [5]. This is why MAX is considered as a tumor suppressor gene. MAX gene mutations were identified as one of the causes of hereditary PPGLs by the next-generation whole exome sequencing in 2011 [6]. Among 1694 PPGL patients without germline mutations in RET, VHL, SDHB, SDHC, SDHD, and TMEM127 genes, 16 heterozygous variants of MAX were identified in 23 patients. According to the clinical and biochemical features in 19 PPGL patients with MAX germline mutations, seven (37%) patients had a family history of PPGL, and age at diagnosis was relatively young ...
This weeks publication of the New England Journal of Medicine evaluates the use of lanreotide in metastatic enteropancreatic neuroendocrine tumors.. ...
Fig. S3 (a, c) Melanoma cells were treated with 1 μg/ml cisplatin or 250 μg/ml dacarbazine and harvested at various time-points. And the menin expression was determined with Western blotting. (b, d) Melanoma cells were treated with the indicated concentrations of cisplatin or dacarbazine, and the menin expression was detected by Western blotting. (e) A375 cells were treated for 24 hrs with various doses of Cisplatin and then analysed for apoptosis via Annexin V-PI staining. (f) menin, γ-H2A.X, cyclinB1 and cyclinB2 protein level were detected by Western blot. ...
Prospective study of the long-term efficacy and safety of lansoprazole in patients with the Zollinger-Ellison syndrome. - R T Jensen, D C Metz, P D Koviack, K M Feigenbaum
Learn more about Zollinger-Ellison Syndrome at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Zollinger-Ellison Syndrome at Blake Medical Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
The standard treatment for Zollinger-Ellison Syndrome is treating the peptic ulcers and medications to reduce the amount of acid present in the stomach. It is diagnosed between the age range of 35-50.
Gastrinomas causing Zollinger-Ellison syndrome (ZES) are the most common functional, malignant pancreatic endocrine tumors. In this paper, the diagnosis and treatment of these tumors are reviewed, inc
The receptor subtypes involved in the physiological and pharmacological actions of gamma-amino butyric acid (GABA) in peripheral and endocrine tissues are not clear. Information about the molecular characteristics of GABA(A) receptors in peripheral endocrine tissues is only available for the pancreas and the adrenal medulla. Using reverse transcription (RT) polymerase chain reaction (PCR), the widespread expression of GABA(A) receptors subunits in rat peripheral tissues, including adrenal, ovary, testis, placenta, uterus, and small intestine is shown. It is shown that GABA(A) receptor subunits are expressed in multiple endocrine tissues in a tissue specific manner. These results give an insight into the likely pharmacological properties of these GABA(A) receptors in these tissues. The gonadal endocrine tissues such as the placenta, ovary and the testis express greater range of GABA(A) receptor subunits ...
Causes of high calcium: Hyperparathyroidism − look also for high ionized calcium, measured or calculated. Hyperparathyroidism may coexist with other endocrine tumors (multiple endocrine adenomatosis syndromes). Carcinoma, with or without bone met
The section is devoted to the publication of high quality research concerning all aspects of endocrine cancer and benign neoplasm of the endocrine system. The aim of the section Cancer Endocrinology is to cover the entire field of endocrine cancer: from classical endocrine neoplasia, such as thyroid, pituitary, adrenal and neuroendocrine tumors, to types of cancer in which endocrine pathways seem to play a relevant role, such as breast, ovarian, colorectal, prostatic, and hepatocellular tumors. Cancer Endocrinology has a particular interest in experimental, pre-clinical and clinical research addressing the following issues: the identification of a definitive role for new laboratory tests and radiological techniques in the clinical diagnosis; the identification of specific molecular patterns of tumorigenesis, which could allow the development of new directions in the field of ...
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A gastrinoma (Zollinger-Ellison syndrome) is a gastrin-secreting neuroendocrine tumor that is most often localized to the duodenum and pancreas. Most gastrinom…
Investigating pancreatic beta cell production and function The vertebrate pancreas includes exocrine and endocrine tissues that are responsible for digesting food and regulating sugar metabolism, respectively. Several diseases associate with the pancreas, including pancreatitis, diabetes, and pancreatic cancer, amongst which diabetes is the most prevalent that inflicts more than 27 million individuals in the United States. We investigate the cellular and molecular mechanisms underlying islet cell differentiation and function, which include multiple endocrine cell types that secrete insulin (beta cells), glucagon (alpha cells), somatostatin (delta cells), and pancreatic polypeptide (PP cells), respectively. Our basic strategy is to first unambiguously identify progenitors of each specific cell type, then examine the molecular networks and cellular interactions for their development and function. Our studies focus on the ...
Kerr, K M; et al; Bubendorf, L; Stahel, R A (2018). Prevalence and clinical association of gene mutations through Multiplex Mutation Testing in patients with NSCLC: Results from the ETOP Lungscape Project. Annals of Oncology, 29(1):200-208.. Stahel, R A; Weder, W; Felley-Bosco, E; Petrausch, U; Curioni-Fontecedro, A; Schmitt-Opitz, I; Peters, S (2015). Searching for targets for the systemic therapy of mesothelioma. Annals of Oncology, 26(8):1649-1660.. Rechsteiner, M; Wild, P; Kiessling, M K; Bohnert, A; Zhong, Q; Stahel, R A; Moch, H; Curioni-Fontecedro, A (2015). A novel germline mutation of PDGFR-β might be associated with clinical response of colorectal cancer to regorafenib. Annals of Oncology, 26(1):246-248.. Echeverry, N; Ziltener, G; Barbone, D; Weder, W; Stahel, R A; Broaddus, V C; Felley-Bosco, E (2015). Inhibition of autophagy sensitizes malignant pleural mesothelioma cells to dual PI3K/mTOR inhibitors. Cell Death and Disease, 6:e1757.. Joerger, ...
This protocol concerns the approach to the localization, diagnosis of MEN1 and management of the tumor and the tissue samples in patients with Zollinger
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Changing concepts in the presentation, diagnosis and management of the Zollinger-Ellison syndrome.: Nine patients with the Zollinger-Ellison syndrome seen at a
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சொளிங்கர்-எலிசன் கூட்டறிகுறி (Zollinger-Ellison syndrome) என்பது புத்திழையப் பெருக்கத்தால் இரைப்பையில் மிகையாக அமிலம் சுரக்கப்பட்டு வயிற்றுப் புண் ஏற்படுதல் ஆகும். இது ஒரு நரம்பிய அகஞ்சுரப்பியப் புத்திழையப் பெருக்கம் ஆகும். காசுத்திரின் எனும் இயக்குநீரைச் சுரக்கவல்ல காசுத்திரின் புத்திழையத்தால் இந்நோய் ஏற்படுகின்றது.[1] இரையகச் சுவரணுக்கள் (parietal cell) இரையகக்காடியைச் (ஐதரோகுளோரிக் காடி) ...
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Featuring a superb compilation of chapters related to endocrinology derived from Harrisons Principles of Internal Medicine, Nineteenth Edition (including content from the acclaimed Harrisons DVD, now available here in print), this concise, full-color clinical companion delivers the latest knowledge in the field backed by the scientific rigor and authority that have defined Harrisons. You will find 36 chapters from 50 renowned editors and contributors in a carry-anywhere presentation that is ideal for the classroom, clinic, ward, or exam/certification preparation.. Features:. • Divided into six sections that reflect the physiologic roots of endocrinology: Introduction to Endocrinology; Pituitary, Thyroid, and Adrenal Disorders; Reproductive Endocrinology; Diabetes Mellitus, Obesity, Lipoprotein Metabolism; Disorders Affecting Multiple Endocrine Systems; and Disorders of Bone and Calcium ...
Our group is broadly interested in understanding how immune tolerance is controlled and its relationship to autoimmune diseases. The main research interest of our laboratory group is to examine the genetic control of autoimmune disease to gain a better understanding of the mechanisms by which immune tolerance is broken. Recently, we generated a mouse model of a human autoimmune disease called APECED, which is classically manifested by an autoimmune attack directed at multiple endocrine organs. This disease is inherited in a monogenic autosomal recessive fashion and the causative gene was identified and is called Aire (for autoimmune regulator). Aire knockout mice, like their human counterparts, develop an autoimmune disease that is targeted to multiple organs. Interestingly, we can ascribe one of the primary defects in these mice to the thymus gland. Specifically, it appears that Aire helps protect against autoimmunity by helping direct the ectopic ...
A gastrinoma is a gastrin-secreting tumor that can occur in the pancreas, although it is most commonly found in the duodenum. Duodenal wall gastrinomas have been identified in 40-50% of patients.
A gastrinoma is a gastrin-secreting tumor that can occur in the pancreas, although it is most commonly found in the duodenum. Duodenal wall gastrinomas have been identified in 40-50% of patients.
View Notes - neoplasia from BIO 20.410j at MIT. Neoplasia Mar 14, 2005 Robbins and Cotran Chapter 7 pp. 269-339 Definitions Neoplasia - new growth Abnormal mass of tissue with growth that exceeds
Synonyms for neoplasia in Free Thesaurus. Antonyms for neoplasia. 2 words related to neoplasia: pathologic process, pathological process. What are synonyms for neoplasia?
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Multiple Endicrine neoplasia: A group of heritable syndromes characterized by abherant growth of benign or malignant tumors in a subset of endocrine tissues.. • ...
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Блюм Я.Б.; Братусь Н.И.; Бабенюк Ю.Д.; Бреманис Г.А.; Трапенциер П.Г.; Кучеренко Н.Е.; Лукевиц Э.Я.; Калвиньш И.Я. Стимуляция пролиферации клеток синтетическими аналогами бетаинов . Труды. Ч.2, V Всесоюзная межуниверситетская конференция Биология клетки, посвященная 70-летию Великого Октября; 16-21 нояб.: Тбилиси, [Грузинская ССР], 1987; 705 ...
Петухов В.И.; Баумане Л.Х.; Дмитриев Е.В.; Рестэ Е.Д.; Звагуле Т.Я.; Романова М.А.; Шушкевич Н.И.; Скавронский С.В.; Щуков А.Н. Сдвиги в металло-лигандном гомеостазе клеток эпидермиса в качестве дискриминаторов окислительного/нитрозативного стресса. В кн. Молекулярные, мембранные и клеточные основы функционирования биосистем. Ч.2. Международная научная конференция. 10-й Съезд Белорусского общественого объединения фотобиологов и биофизиков. Сборник статей. 2012, 192-194 ...

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental...Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental...

Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J ... Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007, 92: 3321-3325. 10.1210/jc.2006 ... Management of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. World J Surg. 2006, 30: 643-653. 10.1007/ ... Thakker RV: Multiple endocrine neoplasia type 1 (MEN 1). Best Pract Res Clin Endocrinol Metab. 2000, 24: 355-370.View Article ...
more infohttps://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-12-614

Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype |...Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype |...

... is an autosomal-dominant hereditary disorder associated with the development of endocrine tumors due to reduced expression of ... Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype. ... BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant hereditary disorder associated with the ... Thakker RV, Newey PJ, Walls GV, et al, 2012 Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin ...
more infohttps://link.springer.com/article/10.1007%2FBF03401410

Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.  ...Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. ...

Germline mutation in the MEN1 gene is the usual cause of multiple endocrine neoplasia type 1 (MEN1). However, the prevalence of ... Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.. ... Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States ... Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=41332

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1.  - PubMed -...Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1. - PubMed -...

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1.. Owens M, ... Multiple Endocrine Neoplasia - Genetic Alliance. *Multiple endocrine neoplasia type 1 - Genetic Alliance ... Multiple Endocrine Neoplasia Type 1/genetics*. Substances. *CDKN1B protein, human. *Intracellular Signaling Peptides and ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=37899

Genetic Evaluation of Families With Endocrine Cancers - Full Text View - ClinicalTrials.govGenetic Evaluation of Families With Endocrine Cancers - Full Text View - ClinicalTrials.gov

Endocrine Gland Neoplasms. Multiple Endocrine Neoplasia Type 1. Digestive System Neoplasms. Neoplasms by Site. Neoplasms. ... germline mutations in familial isolated primary hyperparathyroidism. Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, ... Multiple endocrine neoplasia. White ML, Doherty GM. Surg Oncol Clin N Am. 2008 Apr;17(2):439-59 3) Multiple endocrine neoplasia ... Endocrine System Diseases. Thoracic Neoplasms. Lymphatic Diseases. Multiple Endocrine Neoplasia. Neoplasms, Multiple Primary. ...
more infohttps://clinicaltrials.gov/show/NCT01794676

GeneDxGeneDx

Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J ... Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J ... Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62 ... Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62 ...
more infohttps://www.genedx.com/test-catalog/disorders/wermer-syndrome/

Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in BrazilNarrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1. Clin Endocrinol. 2007;67:377-84, ... Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in ... Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE ... Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit. Arq Bras Endocrinol ...
more infohttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322012001300002&lng=es&nrm=iso&tlng=en

KAKEN - Research Projects | STRUCTURE AND FUNCTION OF NOVEL GENE (BRG1) EXPRESSED IN PANCREATIC BETA CELLS (KAKENHI-PROJECT...KAKEN - Research Projects | STRUCTURE AND FUNCTION OF NOVEL GENE (BRG1) EXPRESSED IN PANCREATIC BETA CELLS (KAKENHI-PROJECT...

Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1.J.Hum.Genet.. 44. 43- ... Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1.J.Hum.Genet.. 44. 43- ... Novel germline mutations of the MEN1 gene in japanese patients with multiple endocrine neoplasia type 1J Hum Genet. 44. 43-47 ... Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1J Hum Genet. 44. 43-47 ...
more infohttps://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-11671131/

GeneDxGeneDx

Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J ... Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J ... Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J ... Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62 ...
more infohttps://www.genedx.com/test-catalog/disorders/multiple-endocrine-neoplasia-type-1/

Pediatric Multiple Endocrine Neoplasia Medication: Somatostatin analogs, Somatostatin Analogs, Proton Pump Inhibitors,...Pediatric Multiple Endocrine Neoplasia Medication: Somatostatin analogs, Somatostatin Analogs, Proton Pump Inhibitors,...

... autosomal dominant mutations in genes that regulate cell growth. Current classification recognizes type 1 and type 2 MEN, with ... multiple endocrine neoplasia (MEN) syndromes, found in pediatric and adult patients, consist of rare, ... the latter being divided into the subcategories type 2A MEN (Sipple syndrome) and... ... Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997 Jul ...
more infohttps://emedicine.medscape.com/article/923269-medication

Role of Menin in Neuroendocrine Tumorigenesis | SpringerLinkRole of Menin in Neuroendocrine Tumorigenesis | SpringerLink

Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects. Human Mutation 1999 ... Management of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. World J Surg 2006; 30(5):643-53.CrossRef ... Management of pancreatic endocrine tumors in patients with multiple endocrine neoplasia type 1. Surg Oncol Clin N Am 1998; 7(4 ... Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends in Endocrinology and Metabolism 2001; 12:173-8. ...
more infohttps://link.springer.com/chapter/10.1007/978-1-4419-1664-8_9

Pediatric Multiple Endocrine Neoplasia Clinical Presentation: History, Physical ExaminationPediatric Multiple Endocrine Neoplasia Clinical Presentation: History, Physical Examination

... autosomal dominant mutations in genes that regulate cell growth. Current classification recognizes type 1 and type 2 MEN, with ... multiple endocrine neoplasia (MEN) syndromes, found in pediatric and adult patients, consist of rare, ... the latter being divided into the subcategories type 2A MEN (Sipple syndrome) and... ... Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997 Jul ...
more infohttps://emedicine.medscape.com/article/923269-clinical

Molecular Genetics in AcromegalyMolecular Genetics in Acromegaly

1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular ... 2006) Germ‐line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proceedings of the ... 1988) Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 332 (6159): 85-87. ... Thakker RV (2013) Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Molecular and Cellular Endocrinology 386 (1-2 ...
more infohttp://www.els.net/WileyCDA/ElsArticle/refId-a0025170.html

Search Results | ejeSearch Results | eje

Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). ... Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing ... In patients with multiple endocrine neoplasia type 1 (n = 39), 68Ga-DOTATATE TV correlated with glucagon (r = 0.5, P = 0.01) ... assay comprising 7.2 kb of the full MEN1 was developed to investigate germline mutations in 76 unrelated MEN1 probands (49 ...
more infohttps://eje.bioscientifica.com/search?f_0=author&q_0=Stephen+J+Marx

Search ResultsSearch Results

Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). ... Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing ... assay comprising 7.2 kb of the full MEN1 was developed to investigate germline mutations in 76 unrelated MEN1 probands (49 ... No mutation was detected in 16 patients. In untranslated, regulatory or in deep intronic MEN1 regions of the 76 MEN1 cases, no ...
more infohttps://eje.bioscientifica.com/search?f_0=author&q_0=Elisangela+P+S+Quedas

MEN1 - WikipediaMEN1 - Wikipedia

"Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)". Journal of Internal Medicine. 243 (6 ... MEN1 multiple endocrine neoplasia I". Thakker RV (June 2010). "Multiple endocrine neoplasia type 1 (MEN1)". Best Practice & ... "Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation". Journal of Endocrinological Investigation. 24 ... GeneReviews/NIH/NCBI/UW entry on Multiple Endocrine Neoplasia Type 1 MEN1 gene variant database MEN1 protein, human at the US ...
more infohttps://en.wikipedia.org/wiki/MEN1

Opocher, G.<...Opocher, G.<...

Germ-Line Mutation Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian ... Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database. ... E2F1 germline copy number variations and melanoma susceptibility. Rocca, M. S., Benna, C., Mocellin, S., Rossi, C. R., Msaki, A ... Gain-of-function mutations in DNMT3A in patients with paraganglioma. Remacha, L., Currás-Freixes, M., Torres-Ruiz, R., Schiavi ...
more infohttps://moh-it.pure.elsevier.com/en/persons/giuseppe-opocher

Multiple Endocrine Neoplasia Type 2 - GeneReviews® - NCBI BookshelfMultiple Endocrine Neoplasia Type 2 - GeneReviews® - NCBI Bookshelf

Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid ... Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A. Br J Surg. 2004;91:1458-9. [PubMed: 15386323] ... Review Multiple endocrine neoplasia type 2.[Curr Treat Options Oncol. 2004]. Review Multiple endocrine neoplasia type 2.. ... Multiple Endocrine Neoplasia Type 2 - GeneReviews®. Multiple Endocrine Neoplasia Type 2 - GeneReviews®. ...
more infohttps://www.ncbi.nlm.nih.gov/books/NBK1257/

nature.com searchnature.com search

Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1 *K. Hamaguchi ... permissionsfor article Novel germline mutations of the ,i,MEN1,/i, gene in Japanese patients with multiple endocrine neoplasia ... Check one or more article types to show results from those article types only. * Research (12) ... Novel mutations of the ATP7B gene in Japanese patients with Wilson disease *Yoichiro Kusuda ...
more infohttp://www.nature.com/search?author=%22Toshiie+Sakata%22&error=cookies_not_supported&code=26faafef-538a-48f3-9f88-92d6f6fc9aa3

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to...Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to...

MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different ... This suggests a role for genetic background and modifier genes in altering the expression of a mutation. We investigated the ... Germline mutations of the multiple endocrine neoplasia type 1 (MEN1) gene cause parathyroid, pancreatic and pituitary tumours ... 1 genotype ratio were first observed at 12.5 and 14.5 dpc in the 129S6/SvEv and C57BL/6 strains respectively (P,0.05). Moreover ...
more infohttps://www.rdm.ox.ac.uk/publications/34784

Sunita K. Agarwal, Ph.D. | NIDDKSunita K. Agarwal, Ph.D. | NIDDK

These tumors can occur sporadically or within familial tumor syndromes such as multiple endocrine neoplasia type 1 (MEN1), a ... disease characterized by germline-inactivating mutations in the MEN1 tumor-suppressor gene that encodes menin. These mutations ... Epigenetic regulation in the tumorigenesis of MEN1-associated endocrine cell types.. Iyer S, Agarwal SK.. J Mol Endocrinol ( ... We study the molecular and genetic basis of endocrine tumorigenesis, particularly endocrine pancreatic neoplasms of the islet β ...
more infohttps://www.niddk.nih.gov/about-niddk/staff-directory/biography/agarwal-sunita

Consequence of Menin Deficiency in Mouse Adipocytes  Derived by In Vitro DifferentiationConsequence of Menin Deficiency in Mouse Adipocytes Derived by In Vitro Differentiation

... and clinical studies that provide insights into the endocrine system and its associated diseases at a genomic, molecular, ... "Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1," Archives of Dermatology, ... syndrome carry a heterozygous germline inactivating mutation in MEN1 that predisposes to tumors of multiple endocrine and ... S. K. Agarwal, "Multiple endocrine neoplasia type 1," Frontiers of Hormone Research, vol. 41, pp. 1-15, 2013. View at Google ...
more infohttps://www.hindawi.com/journals/ije/2015/149826/

Ovarian Cancer - Hereditary/Genetic FactorsOvarian Cancer - Hereditary/Genetic Factors

... syndromes which can also increase the risk of ovarian pathology include Gorlin syndrome and multiple endocrine neoplasia type 1 ... Vicus, D, Finch, A, Cass, I, Rosen, B. "Prevalence of BRCA1 and BRCA2 germ line mutations among women with carcinoma of the ... with nonsense mutations or frameshift mutations being predominant. Nonsense mutations occur when a single nucleotide ... Hereditary non-polyposis colorectal cancer (HNPCC) Lynch Type II. Prophylactic surgery for women with HNPCC, Lynch Type II ...
more infohttp://www.neurologyadvisor.com/obstetrics-and-gynecology/ovarian-cancer--hereditarygenetic-factors/article/618069/

Plus itPlus it

Pituitary tumor is one of the tumor types observed in the multiple endocrine neoplasia type 1 (MEN1) syndrome. MEN1 is caused ... by heterozygous germline mutations (1st hit) in the MEN1 tumor suppressor gene encoding menin. Subsequent tissue-specific ... and endocrine pancreas. Somatic MEN1 mutations are also observed in sporadic parathyroid and pancreatic endocrine tumors. We ... Our results strongly indicate that MEG3 is silenced in sporadic or MEN1-associated endocrine tumor types supporting the tumor ...
more infohttp://cancerres.aacrjournals.org/content/73/8_Supplement/LB-249

PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney...PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney...

Study of the multiple endocrine neoplasia type 1, growth hormone- releasing hormone receptor, Gs alpha, and Gi2 alpha genes in ... No significant LOH and no PRKAR1A mutations were found in the sporadic tumours or the germline DNA of the patients with the ... Hai N, Aoki N, Shimatsu A, Mori T, Kosugi S. Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without ... Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science1997;276:404-7. ...
more infohttp://jmg.bmj.com/content/39/12/e78
  • Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and 99m Tc-sestamibi scan with SPECT acquisition. (biomedcentral.com)
  • Modified genetic factors that exist and may influence the phenotypic presentation of disease in unrelated MEN 1 families. (clinicaltrials.gov)
  • To identify modifying genetic factors that exist and that may influence phenotypic presentation of the disease in unrelated MEN 1 families with different clinical presentation of the disease. (clinicaltrials.gov)
  • However, in 5% of cases (and significantly more frequently in the young ages), they can occur as a result of a genetic defect, most of the time in association with other endocrine abnormalities or as an isolated disorder. (els.net)
  • Molecular genetic testing to identify a heterozygous germline RET pathogenic variant is indicated in all individuals with a diagnosis of primary C-cell hyperplasia or MTC or a clinical diagnosis of MEN 2. (nih.gov)
  • Identification of a heterozygous germline RET pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive. (nih.gov)
  • RET molecular genetic testing should be offered to all at-risk members of kindreds in which a germline RET pathogenic variant has been identified. (nih.gov)
  • Wermer P. Genetic aspects of adenomatosis of endocrine glands. (springer.com)
  • Pituitary tumours are the most frequent intracranial neoplasms, affecting 1/1000 of the worldwide population. (els.net)
  • They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. (aacrjournals.org)
  • We conduct basic research to explain the molecular processes responsible for normal and neoplastic growth and function of endocrine cells, such as the insulin-secreting pancreatic islet β-cells. (nih.gov)
  • Diazoxide increases a patient's blood glucose level within 1 hour by inhibiting insulin release from the patient's insulinoma. (medscape.com)
  • Octreotide acetate acts primarily on somatostatin receptor subtypes II and V. It inhibits GH secretion and has other endocrine and nonendocrine effects, including inhibition of glucagon, VIP, and gastrointestinal (GI) peptides. (medscape.com)
  • These adenomas generally present as slowly growing lesions with low mitotic rate and Ki-67 labeling index ( 1 ). (aacrjournals.org)
  • Although most of these small lesions are incidental findings, with no obvious clinical impact ( 3 ), clinically relevant pituitary adenomas are present in 0.1% of the general population, and they represent the third most-frequent intracranial tumor type after meningiomas and gliomas ( 4 ). (aacrjournals.org)
  • This means that although an individal may carry the gene mutation and be at risk for developing cancer, they do not definitely develop the associated cancer. (neurologyadvisor.com)
  • tNGS results were validated by Sanger sequencing (SS), and multiplex ligation-dependent probe amplification (MLPA) assay was applied when no mutations were identifiable by both tNGS and SS. (bioscientifica.com)
  • Specific cell types produced by in vitro differentiation of embryonic stem cells (ESCs) or induced pluripotent stem cells (iPSCs) that are normal or mutant for a disease-causing gene can serve as useful models to study molecular processes that are altered in disease [ 15 , 16 ]. (hindawi.com)
  • Characterization of the mouse Men 1 gene and its expression during development. (springer.com)
  • Analysis of tumor necrosis factor-α promoter polymorphism in type 1 deabetes : HLA-B and -DRB1 alleles are primarily associated with the disease in Japaneses'Tissue Antigens. (nii.ac.jp)
  • The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic medicine or personalized medicine (1,2). (scielo.br)