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)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.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.Thyroid Neoplasms: Tumors or cancer of the THYROID GLAND.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.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.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.Neuroma: A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)Receptor Protein-Tyrosine Kinases: A class of cellular receptors that have an intrinsic PROTEIN-TYROSINE KINASE activity.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).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.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)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.Adenoma: A benign epithelial tumor with a glandular organization.Parathyroidectomy: Excision of one or more of the parathyroid glands.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.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.Endocrine Gland Neoplasms: Tumors or cancer of the ENDOCRINE GLANDS.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)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.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.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.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.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.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.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.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)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.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.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.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.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.Normetanephrine: A methylated metabolite of norepinephrine that is excreted in the urine and found in certain tissues. It is a marker for tumors.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.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)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)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.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.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.Pancreatectomy: Surgical removal of the pancreas. (Dorland, 28th ed)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.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)Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.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.Thymus Neoplasms: Tumors or cancer of the THYMUS GLAND.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Growth Hormone-Secreting Pituitary Adenoma: A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY.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.Syndrome: A characteristic symptom complex.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.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.DNA, Neoplasm: DNA present in neoplastic tissue.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).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.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.Thymectomy: Surgical removal of the thymus gland. (Dorland, 28th ed)Heterozygote Detection: Identification of genetic carriers for a given trait.Endocrine System Diseases: Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.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.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.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.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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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)Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.JapanAlleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.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.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.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.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.Cell 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.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.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.X-Ray Therapy: Medical treatment involving the use of controlled amounts of X-Rays.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.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.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)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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.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.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)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.

*  CiNii 論文 - Diagnostic Problems in Medullary Carcinoma of the Thyroid ...

of prospective screening for multiple endocrine neoplasia type 2a GAGEL RF New Engl J Med 318, 478-484, 1988 ... Multiple endocrine neoplasia (MEN) syndromes : cellular origins and interrelationships DE LELLIS RA ... Multiple endocrine cell types in thyroid medullary carcinoma. Evidence for calcitonin, somatostatin, ACTH, 5HT and small ... Histological typing of thyroid tumors. World Health Organization International Histological Classification of Tumors, 1988 ...

*  Pheochromocytoma and Paraganglioma Treatment (PDQ®): Treatment - Health Professional Information [NCI] - North Kansas City...

Multiple endocrine neoplasia type 2A and 2B. RET. (Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of ... The surgical management of pheochromocytoma in patients with the hereditary syndromes multiple endocrine neoplasia type 2 (MEN2 ... Complications after bilateral adrenalectomy for phaeochromocytoma in multiple endocrine neoplasia type 2--a plea to conserve ... Refer to the PDQ summary on the Genetics of Endocrine and Neuroendocrine Neoplasias for more information on the treatment of ...

*  The AMEDEO Literature Guide

Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A.. J Clin Endocrinol Metab. 2015;100:2539-45.. ... Prevalence of thyroid dysfunction in autoimmune and type 2 diabetes. The population-based HUNT Study in Norway.. J Clin ... The relationship between thyroid function and the prevalence of type 2 diabetes mellitus in euthyroid subjects.. J Clin ... Thyroid and islet autoantibodies predict autoimmune thyroid disease already at Type 1 diabetes diagnosis.. J Clin Endocrinol ...

*  CiNii 論文 - A Novel Somatic Point Mutation of the RET Proto-oncogene in Tumor Tissues of Small...

Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A MULLIGAN L. M. ... Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related ... A mutation in the RET protooncogene associated with multiple endocrine neoplasia type 2 B and sporadic medullary thyroid ... Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC DONIS-KELLER ...

*  WikiGenes - HRPT1 - hyperparathyroidism 1

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Mathew, C.G., Chin, K.S., Easton, D.F., ... Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary ... Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. Brooks, M.H., Bell, N.H., Love, L ...

*  Novel p62dok family members, dok-4 and dok-5, are substrates of the c-Ret receptor tyrosine kinase and mediate neuronal...

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363:458-460. ... A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid ... The receptor tyrosine kinase c-Ret was discovered as an oncogene and is mutated in patients with multiple endocrine neoplasia ( ... stimulation of a Ret chimeric receptor carrying the activating mutation responsible for the multiple endocrine neoplasia type ...

*  Factors Predicting Outcome of Total Thyroidectomy in Young Patients with Multiple Endocrine Neoplasia Type 2: A Nationwide Long...

All MEN 2 patients develop medullary thyroid carcinoma (MTC). The age-related risk of MTC is associated with the type of RET ... for MTC based on RET-mutation type. Disease-free patients were compared with those with recurrent disease. A total of 93 ... Multiple endocrine neoplasia type 2 (MEN 2) is caused by a RET mutation in chromosome 10. ... Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A.. *Michael A Skinner. , Jeffrey A Moley. , William G Dilley ...

*  KAKEN - Research Projects | Maturation therapy of enteric ganglia for pseudo-Hirschsprung's disease. (KAKENHI-PROJECT-07457424)

Publications] Shimotake T,et al.: 'Germline mutation of the RET proto-oncogene in multiple endocrine neoplasia type 2A:DNA ... Germline mutations of the RET proto-oncogene have been described also in pedigrees with multiple endocrine neoplasia (MEN) type ... Absence of rectoanal inhibitory reflex in children with multiple endocrine neoplasia type 2B.' Journal of Pediatric Surgery. 33 ... Absence of rectoanal inhibitory reflex in children with multiple endocrine neoplasia type 2B.' Journal of Pediatric Surgery. ( ...

*  adrenal glands

Multiple Endocrine Neoplasia Type 2a. 1. + + +. 61. Adrenoleukodystrophy. 1. + + +. 62. Pregnancy Complications, Neoplastic. 1 ...

*  Pheochromocytoma and Paraganglioma Treatment (PDQ®) (Health professionals) - Siteman Cancer Center

Multiple endocrine neoplasia type 2A and 2B. RET (Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of ... The surgical management of pheochromocytoma in patients with the hereditary syndromes multiple endocrine neoplasia type 2 (MEN2 ... Complications after bilateral adrenalectomy for phaeochromocytoma in multiple endocrine neoplasia type 2--a plea to conserve ... Genetics of Endocrine and Neuroendocrine Neoplasias. DeLellis RA, Lloyd RV, Heitz PU, et al., eds.: Pathology and Genetics of ...

*  Novel p.C620L RET Mutation Detected in a Patient with Medullary Thyroid Carcinoma

... as Multiple Endocrine Neoplasia type 2 patients with other RET codon 620 mutations (American Thyroid Association risk level B). ... The patient was heterozygous for two known mutations causative of Multiple Endocrine Neoplasia type 2 disorder, and both ... "Risk Profiles and Penetrance Estimations in Multiple Endocrine neoplasia Type 2a Caused by Germline Ret Mutations Located in ... R. L. Margraf, D. K. Crockett, P. M. Krautscheid, et al., "Multiple Endocrine Neoplasia Type 2 Ret Protooncogene Database: ...

*  Bruce Ponder - Wikipedia

"Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2". Hum Mol Genet ... His team pinpointed the RET gene as the cause of Multiple endocrine neoplasia type 2. During the 1990s, Ponder co-founded and ...

*  Most recent papers with the keyword Cowden | Read by QxMD

... multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. The common and ... Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome. ... ... Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by ...

*  RET proto-oncogene - Wikipedia

... multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. RET is an abbreviation for " ... "RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary ... Online Mendelian Inheritance in Man (OMIM) MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A -171400 Qi XP, Ma JM, Du ZF, Ying RB, ... GeneReviews/NCBI/NIH/UW entry on Multiple Endocrine Neoplasia Type 2 ret Proto-Oncogene Proteins at the US National Library of ...

*  Chasing down the genetic risks of cancer | Emory University | Atlanta, GA

... testing revealed Kathie carries a mutation in the RET gene associated with a diagnosis of multiple endocrine neoplasia Type 2A ... What the family might also share, though, is a genetic mutation that puts some of them at risk for a certain type of cancer. ...

*  Multiple endocrine neoplasia type 2b - Wikipedia

Multiple endocrine neoplasia Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2a Rapini, Ronald P.; ... Multiple endocrine neoplasia type 2B (also known as "MEN2B", "Mucosal neuromata with endocrine tumors", "Multiple endocrine ... and endocrine glands. It is the most severe type of multiple endocrine neoplasia, differentiated by the presence of benign oral ... December 1994). "Parent-of-origin effects in multiple endocrine neoplasia type 2B". Am. J. Hum. Genet. 55 (6): 1076-82. PMC ...

*  Multiple endocrine neoplasia - Wikipedia

Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2a Multiple endocrine neoplasia type 2b "multiple ... Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Mulligan LM, Kwok JB, Healey CS, Elsdon ... Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of ... CS1 maint: Multiple names: authors list (link) "Multiple Endocrine Neoplasia Type 1: In Familial Cancer Syndromes. DL Riegert- ...

*  Współpraca międzynarodowa - pl

... related neoplastic risk profiles in multiple endocrine neoplasia type 2A caused by germline RET Cys634Trp (TGC,TGG) mutation. ... Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in ... Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J ... of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an ...


... multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, familial medullary thyroid cancer, pheochromocytoma ... Plk1 is upregulated in multiple cancer types and the expression levels correlate with severity of disease (Macmillan, J C et al ... The unit dosage form can be for a single daily dose or one of multiple daily doses (e.g., about 1 to 4 or more times per day). ... 0366] Solid compositions of a similar type may also be employed as fillers in soft and hard-filled gelatin capsules using such ...

*  List of MeSH codes (C19) - Wikipedia

... multiple endocrine neoplasia type 2a MeSH C19.344.400.510 --- multiple endocrine neoplasia type 2b MeSH C19.344.410.398 --- ... multiple endocrine neoplasia type 1 MeSH C19.344.400.505 --- ...

*  Most recent papers with the keyword germline stem cell | Read by QxMD

... reveals-the-putative-role-of-egr1-transcriptional-program-in-the-development-of-multiple-endocrine-neoplasia-type-2a-associated ... control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A- ... but emerging evidence revealed that piRNAs are expressed in a tissue-specific manner among multiple human somatic tissue types ... BACKGROUND: Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship ...

*  Online V-Tada Super Providence

... et al Surgical DNA testing and family thyroidectomy in children at least for multiple endocrine neoplasia type 2A. Lowest Price ... These V-Taada allowed the normal of inflow DNA catholic to identify patients who have inherited a prostaglandin for MEN 2A. ... Procedure Truthfully long anesthesia and conscious nOline a per- roast offend is performed via a Touhy-type scarlet cash into ... Super Providence noticeable only DNA Online V-Tada Super Providence to identify subgroups who had distal a barium for MEN 2A ...

*  Disorders of Calcium: Hypocalcemia and Hypercalcemia

Hyperparathyroidism: Calcium-sensing receptor mutations; multiple endocrine neoplasias types 1 and 2a; Parathyroid adenoma; ... For patients with rickets type 1, hypoparathyroidism, pseudohypoparathyroidism and renal failure, may give calcitriol (1,25 ... Acute hypocalcemia is more likely to be caused by this type of process. ... This condition manifests as that of classic type 1 vitamin D-dependant rickets, however, with elevated serum concentrations of ...

*  eDrug Update - January 2014

... multiple endocrine neoplasia type 2A syndrome, or multiple endocrine neoplasia type 2B syndrome have heightened risk as well. ... There are five types of standard treatment for thyroid cancer. Surgery is the most common, and can include lobectomy, with ... Four main types of thyroid cancer exist: papillary thyroid cancer, which is the most prevalent; follicular thyroid cancer ( ... Carcinoma of the thyroid gland is the most common malignancy of the endocrine system.1 Overall, the incidence for thyroid ...

*  Thyroid - Tr​evor H. Kaye, MD

Some inherited syndromes can also predispose people to thyroid cancer, including multiple endocrine neoplasia type 2A and type ... An international panel of doctors has decided that a type of tumor that was classified as a cancer is not a cancer at all.. As ... The Endocrine Society put together an international group to come out with guidelines on thyroid and pregnancy, with their ... Most types of thyroid cancer are treatable and in some cases, curable, Lorch says.* ...

Multiple endocrine neoplasiaMedullary carcinoma: Medullary carcinoma refers to one of several tumors.PheochromocytomaAdrenal tumorParathyroid neoplasmGermline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Thyroid cancerHyperparathyroidismPituitary adenomaInsulinomaNeuroma: A neuroma (plural: neuromata or neuromas) is a growth or tumor of nerve tissue. Neuromas tend to be benign (i.Related to receptor tyrosine kinase: The related to receptor tyrosine kinase (RYK) gene encodes the protein Ryk.Nasopharyngeal angiofibroma: Nasopharyngeal angiofibroma (also called juvenile nasopharyngeal angiofibroma) is a histologically benign but locally aggressive vascular tumor that grows in the back of the nasal cavity. It most commonly affects adolescent males.PancreatoblastomaPedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary -, a part of The New York Times Company.ThyroidectomyThyroid adenomaProcalcitonin: Procalcitonin (PCT) is a peptide precursor of the hormone calcitonin, the latter being involved with calcium homeostasis. It is composed of 116 amino acids and is produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine.Duodenal cancerTypical pulmonary carcinoid tumour: Typical pulmonary carcinoid tumour is a subtype of pulmonary carcinoid tumour. It is an uncommon low-grade malignant lung mass that is most often in the central airways of the lung.Von Hippel–Lindau binding protein 1: Von Hippel–Lindau binding protein 1 (VBP1), also known as "prefoldin 3", is a chaperone protein that binds to von Hippel–Lindau protein and transports it from perinuclear granules to the nucleus or cytoplasm inside the cell. It is also involved in transporting nascent polypeptides to cytosolic chaperonins for post-translational folding.Hirschsprung's diseaseGlucagonomaBESS domain: In molecular biology, the BESS domain is a protein domain which has been named after the three proteins that originally defined the domain: BEAF (Boundary element associated factor 32), Suvar(3)7 and Stonewall ). The BESS domain is 40 amino acid residues long and is predicted to be composed of three alpha helices, as such it might be related to the myb/SANT HTH domain.Sestamibi parathyroid scintigraphyProlactinomaGangliocytic paraganglioma: A gangliocytic paraganglioma, abbreviated GP, is a rare tumour that is typically found in the duodenum and consists of three components: (1) ganglion cells, (2) epithelioid cells (paraganglioma-like) and, (3) spindle cells (schwannoma-like).Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Loss of heterozygosity: Loss of heterozygosity (LOH) is a gross chromosomal event that results in loss of the entire gene and the surrounding chromosomal region.[Association of the autoimmune diseases scleroderma with an immunologic response to cancer,] Christine G.LanreotideNormetanephrineMissense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Lipoma: (ILDS D17.910)Rondo HattonParathyroiditis: Parathyroiditis is a condition involving inflammation of the parathyroid gland.Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.PancreatectomyPoint mutationLittle gastrin IHyperplasia: Hyperplasia (from ancient Greek ὑπέρ huper, "over" + πλάσις plasis, "formation"), or hypergenesis, is an increase in the amount of organic tissue that results from cell proliferation. It may lead to the gross enlargement of an organ and the term is sometimes confused with benign neoplasia or benign tumor.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Tumor suppressor gene: A tumor suppressor gene, or antioncogene, is a gene that protects a cell from one step on the path to cancer. When this gene mutates to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).PancreaticoduodenectomyFamilial hypocalciuric hypercalcemiaThermal cyclerCodon Adaptation Index: The Codon Adaptation Index (CAI) is the most widespread technique for analyzing Codon usage bias. As opposed to other measures of codon usage bias, such as the 'effective number of codons' (Nc), which measure deviation from a uniform bias (null hypothesis), CAI measures the deviation of a given protein coding gene sequence with respect to a reference set of genes.Parathyroid hormone family: The parathyroid hormone family is a family of structurally and functionally related proteins. Parathyroid hormone (PTH) is a polypeptidic hormone primarily involved in calcium metabolism.Follicular cellThymectomyBMC Endocrine Disorders: BMC Endocrine Disorders is an open access peer-reviewed scientific journal publishing original research articles in all aspects of the prevention, diagnosis and management of endocrine disorders, as well as related molecular genetics, pathophysiology, and epidemiology.References ==OctreotideEndocrine glandFrameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Absent adrenal glandChromosome regionsDeletion (genetics)Anaplastic carcinoma: Anaplastic carcinoma is a general term for a malignant neoplasm arising from the uncontrolled proliferation of transformed cells of epithelial origin, or showing some epithelial characteristics, but that reveal no cytological or architectural features of associated with more differentiated tumors, such as the glandular formation or special cellular junctions that typical of adenocarcinoma and squamous cell carcinoma, respectively.Dense artery sign: In medicine, the dense artery sign or hyperdense artery sign is a radiologic sign seen on computer tomography (CT) scans suggestive of early ischemic stroke. In earlier studies of medical imaging in patients with strokes, it was the earliest sign of ischemic stroke in a significant minority of cases.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Niigata UniversityInfinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Somatostatin family: A:99-116Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.

(1/179) Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.

The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.  (+info)

(2/179) Ganglioneuromas and renal anomalies are induced by activated RET(MEN2B) in transgenic mice.

Multiple endocrine neoplasia type 2B (MEN2B) is an autosomal dominant syndrome characterized by the development of medullary thyroid carcinoma, pheochromocytomas, musculoskeletal anomalies and mucosal ganglioneuromas. MEN2B is caused by a specific mutation (Met918-->Thr) in the RET receptor tyrosine kinase. Different mutations of RET lead to other conditions including MEN2A, familial medullary thyroid carcinoma and intestinal aganglionosis (Hirschsprung disease). Transgenic mice were created using the dopamine beta-hydroxylase promoter to direct expression of RET(MEN2B) in the developing sympathetic and enteric nervous systems and the adrenal medulla. DbetaH-RET(MEN2B) transgenic mice developed benign neuroglial tumors, histologically identical to human ganglioneuromas, in their sympathetic nervous systems and adrenal glands. The enteric nervous system was not affected. The neoplasms in DbetaH-RET(MEN2B) mice were similar to benign neuroglial tumors induced in transgenic mice by activated Ras expression under control of the same promoter. Levels of phosphorylated MAP kinase were not increased in the RET(MEN2B)-induced neurolglial proliferations, suggesting that alternative pathways may play a role in the pathogenesis of these lesions. Transgenic mice with the highest levels of DbetaH-RET(MEN2B) expression, unexpectedly developed renal malformations analogous to those reported with loss of function mutations in the Ret gene.  (+info)

(3/179) Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene.

A germline mutation either in exon 10 or 11 of the RET proto-oncogene is found in the majority of patients with multiple endocrine neoplasia type 2A (MEN 2A). A 41-year-old female patient was referred for further evaluation of incidentally discovered right adrenal tumor. She had bilateral adrenal pheochromocytomas and medullary thyroid carcinomas detected by endocrinological and radiological examination, and diagnosed as MEN 2A. Molecular genetic testing of the RET exons 10 and 11 exhibited the identical somatic missense mutation at codon 634 in both tumors but did not confirm germline mutations in the corresponding sites. Possible mechanisms for tumorigenesis in this patient are discussed.  (+info)

(4/179) Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

BACKGROUND: The detection of pheochromocytomas in patients at risk for these tumors, such as patients with von Hippel-Lindau disease or multiple endocrine neoplasia type 2 (MEN-2), is hindered by the inadequate sensitivity of commonly available biochemical tests. In this study we evaluated measurements of plasma normetanephrine and metanephrine for detecting pheochromocytomas in patients with von Hippel-Lindau disease or MEN-2. METHODS: We studied 26 patients with von Hippel-Lindau disease and 9 patients with MEN-2 who had histologically verified pheochromocytomas and 50 patients with von Hippel-Lindau disease or MEN-2 who had no radiologic evidence of pheochromocytoma. Von Hippel-Lindau disease and MEN-2 were diagnosed on the basis of germ-line mutations of the appropriate genes. The plasma concentrations of normetanephrine and metanephrine were compared with the plasma concentrations of catecholamines (norepinephrine and epinephrine) and urinary excretion of catecholamines, metanephrines, and vanillylmandelic acid. RESULTS: The sensitivity of measurements of plasma normetanephrine and metanephrine for the detection of tumors was 97 percent, whereas the other biochemical tests had a sensitivity of only 47 to 74 percent. All patients with MEN-2 had high plasma concentrations of metanephrine, whereas the patients with von Hippel-Lindau disease had almost exclusively high plasma concentrations of only normetanephrine. One patient with von Hippel-Lindau disease had a normal plasma normetanephrine concentration; this patient had a very small adrenal tumor (<1 cm). The high sensitivity of measurements of plasma normetanephrine and metanephrine was accompanied by a high level of specificity (96 percent). CONCLUSIONS: Measurements of plasma normetanephrine and metanephrine are useful in screening for pheochromocytomas in patients with a familial predisposition to these tumors.  (+info)

(5/179) RET proto-oncogene in the development of human cancer.

The RET proto-oncogene, located on chromosome subband 10q11.2, encodes a receptor tyrosine kinase expressed in tissues and tumors derived from neural crest. Germline (present in every cell of the body) mutations in RET cause multiple endocrine neoplasia type 2 (MEN 2), an inherited cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PC), and hyperparathyroidism (HPT). This knowledge has allowed molecular diagnosis and presymptomatic DNA-based testing to become possible. RET testing is considered the standard of care in MEN 2 families because clinical decisions are made based on the results of such gene testing. There appears to be a correlation between specific RET mutation type and organ-specific tumor development. Such knowledge might be useful in tailoring targeted surveillance in the near future. Somatic (in the tumor only) RET mutations have been found in a proportion of sporadic MTCs and PCs. Whether the presence of somatic RET mutation is associated with a poor prognosis is currently being investigated as another tool for molecular medicine.  (+info)

(6/179) Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene.

Pheochromocytomas are rare neoplasias of the adrenal medulla which generally present with paroxysmal or sustained hypertension. Cardiogenic pulmonary edema is a common feature of these tumors, but few cases have been described with noncardiogenic pulmonary edema. We report a pheochromocytoma with the principle manifestation of noncardiogenic pulmonary edema and characterize a genetic lesion associated with the disorder. A 30-year-old man was admitted with abdominal pain and breathlessness. x-Ray examination of the chest revealed a massive, diffuse infiltration of the left lung without cardiomegaly. No paroxysmal blood pressure fluctuations or heart failure were evident during the entire course, and the infiltrate and dyspnea resolved in three days without inotropic or diuretic agents. Serum norepinephrine and epinephrine levels were elevated twenty and fifty times above normal, respectively. The patient was ultimately diagnosed with multiple endocrine neoplasia type 2A (MEN 2A). Mutations in the RET proto-oncogene have been described recently in patients with MEN 2A. Mutation analysis of selected RET exonic sequences identified a germline mutation at codon 634 in exon 11 of the RET proto-oncogene. The mutation introduces a transition encoding a non-conservative substitution from TGC (Cys) to CGC (Arg) and creates a novel restriction site recognized by HhaI. We further screened for this mutation among four of the proband's relatives by HhaI restriction analysis. One asymptomatic family member was identified who subsequently elected prophylactic total thyroid removal. Histological examination of this specimen confirmed the presence of medullary thyroid carcinoma.  (+info)

(7/179) Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC).

BACKGROUND: Once genetic testing accurately identifies MEN 2 gene carriers, affected children are given the opportunity to undergo thyroidectomy at the earliest stages of the C-cell disease. OBJECTIVE: To define reliable parameters by which to identify the best moment for thyroidectomy in patients who are carriers of the MEN 2 gene. PATIENTS AND METHODS: Seventy-one MEN 2/FMTC gene carriers, collected through the national register of the French Calcitonin Tumours Study Group, were evaluated. All the patients included were younger than 20 years of age and underwent total thyroidectomy. Basal and pentagastrin-stimulated calcitonin were assayed using an immunoradiometric method (sensitivity less than 2pg/ml). Calcitonin measurement was evaluated on the basis of histopathological findings in surgical thyroid specimens. RESULTS: We found C-cell hyperplasia or medullary thyroid carcinoma in all the 71 gene carriers - even for the youngest patients - and nodal metastases were present in four cases. Calcitonin measurement (basal or pentagastrin-stimulated) detected C-cell disease preoperatively in all patients. Six of the 71 patients were not surgically cured: one had nodal metastases, one had an advanced staged disease and four had an incomplete nodal dissection or had not undergone lymph node surgery. CONCLUSIONS: Determination of calcitonin forms an integral part of the management of MEN 2 gene carriers. Thyroidectomy is undisputably indicated when basal calcitonin is abnormal. When basal calcitonin is undetectable, a pentagastrin-stimulated increase in calcitonin to more than 10 pg/ml indicates an early thyroidectomy to cure the patient.  (+info)

(8/179) Transforming ability of MEN2A-RET requires activation of the phosphatidylinositol 3-kinase/AKT signaling pathway.

The RET gene codes for a receptor tyrosine kinase that plays a crucial role during the development of both the enteric nervous system and the kidney. Germ line missense mutations at one of six codons specifying extracytoplasmic cysteines are responsible for two related cancer disorders as follows: multiple endocrine neoplasia type2A (MEN2A) and familial medullary thyroid carcinoma (FMTC). MEN2A and FMTC mutations result in a constitutive catalytic activity and as a consequence convert RET into a dominantly acting transforming gene. Although it has been shown that RET-MEN2 mutants activate several transduction pathways, their respective contribution to the neoplastic phenotype remains poorly understood. Over the past few years, it has become increasingly clear that the transforming ability of several viral and cellular oncoproteins depends on their capacity to activate phosphatidylinositol 3-kinase (PI3K). We now report that RET carrying a representative MEN2A mutation at Cys-634 (termed RET-MEN2A) activates PI3K and its downstream effector, the serine/threonine kinase AKT/protein kinase B. Previous studies have demonstrated that mutation of Tyr-1062, which is the intracellular docking site for Shc and Enigma on RET, abolishes the RET-MEN2A transforming activity. We provide evidence that mutation of Tyr-1062 abrogates the binding of the p85 regulatory subunit of PI3K to RET-MEN2A and the subsequent stimulation of the PI3K/AKT pathway. Furthermore, infection of rat fibroblasts with a retrovirus expressing a dominant-interfering form of PI3K suppresses RET-MEN2A-dependent transformation, whereas overexpression of AKT enhances the RET-MEN2A oncogenic potential. In summary, these data are consistent with the notion that RET-mediated cell-transforming effect is critically dependent on the activation of the PI3K/AKT pathway.  (+info)


  • Germline mutations of the RET proto-oncogene have been described also in pedigrees with multiple endocrine neoplasia (MEN) type 2A,MEN type 2B,and hereditary medullary thyroid carcinoma (FMTC). (
  • The early age of onset for medullary thyroid carcinoma and the presence of lymph node metastasis in this patient suggests individuals with the p.C620L mutation should be treated and screened (for pheochromocytomas and parathyroid hyperplasia) as Multiple Endocrine Neoplasia type 2 patients with other RET codon 620 mutations (American Thyroid Association risk level B). (
  • A New Hot Spot for Mutations in the Ret Protooncogene Causing Familial Medullary Thyroid Carcinoma and Multiple Endocrine Neoplasia Type 2a," Journal of Clinical Endocrinology & Metabolism, Vol. 83, No. 3, 1998, pp. 770-774. (
  • Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome. (
  • RET loss of function mutations are associated with the development of Hirschsprung's disease, while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. (
  • There are three subtypes based on clinical presentation: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). (
  • Just a few months after having her thyroid removed, genetic testing revealed Kathie carries a mutation in the RET gene associated with a diagnosis of multiple endocrine neoplasia Type 2A (MEN2A), a hereditary condition that greatly increases the risk for getting medullary thyroid cancer. (
  • Patients who have genetic conditions such as familial medullary thyroid cancer, multiple endocrine neoplasia type 2A syndrome, or multiple endocrine neoplasia type 2B syndrome have heightened risk as well. (
  • When it coexists with tumors of the parathyroid gland and medullary component of the adrenal glands (pheochromocytoma) it is called multiple endocrine neoplasia type 2 (MEN2). (
  • Hereditary medullary thyroid carcinoma or multiple endocrine neoplasia (MEN2) accounts for approximately 25% of all medullary thyroid carcinomas. (


  • The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. (
  • citation needed] The term multiple endocrine neoplasia is used when two or more endocrine tumor types, known to occur as a part of one of the defined MEN syndromes, occurs in a single patient and there is evidence for either a causative mutation or hereditary transmission. (
  • The presence of two or more tumor types in a single patient does not automatically designate that individual as having MEN because there is a small statistical chance that development of two "sporadic" tumors that occur in one of the MEN syndromes could occur by chance. (
  • Although not officially categorized as multiple endocrine neoplasia syndromes, Von Hippel-Lindau disease and Carney complex are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes. (
  • A number of genetic conditions including multiple endocrine neoplasia syndromes also increase the risk. (
  • Such co-occurrences are usually seen in patients carrying hereditary syndromes like multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), or von Hippel-Lindau (VHL) disease. (


  • Ret as a Diagnostic and Therapeutic Target in Sporadic and Hereditary Endocrine Tumors," Endocrine Reviews, Vol. 27, No. 5, 2006, pp. 535-560. (
  • Activating point mutations in RET can give rise to the hereditary cancer syndrome known as multiple endocrine neoplasia type 2 (MEN 2). (


  • RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China. (
  • Publications] T.Shimotake, N.Iwai et al: 'Germline mutation of the RET proto-oncogene in pedigree with MEN type 2A. (
  • Publications] Shimotake T,Iwai N,Inoue K,Inazawa J,Nishisho I.: 'Germline mutations of the RET proto-oncogene in pedigree with MEN type 2A-DNA analysis and its implications for pediatric surgery. (
  • The Relationship between Specific Ret Proto-Oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2. (
  • Genetic associations include: In all cases, the disease is idiopathic, but is thought to involve inactivation of tumor suppressor genes (Menin gene in MEN1), or involve gain of function mutations (RET proto-oncogene MEN 2a). (


  • Primary hyperparathyroidism is also a feature of several familial endocrine disorders: Multiple endocrine neoplasia type 1 and type 2A (MEN type 1 and MEN type 2A), and familial hyperparathyroidism. (


  • Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of Endocrine and Neuroendocrine Neoplasiasfor more information. (
  • showed that the MEN 2 category included two groups of patients with MTC and pheochromocytoma: one with parathyroid disease and a normal appearance (MEN 2A) and the other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities (MEN 2B). (
  • Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. (


  • Histological typing of thyroid tumors. (
  • A. Z. Lai, T. S. Gujral and L. M. Mulligan, "Ret Signaling in Endocrine Tumors: Delving Deeper into Molecular Mechanisms," Endocrine Pathology, Vol. 18, No. 2, 2007, pp. 57-67. (
  • Multiple endocrine neoplasia type 2B (also known as "MEN2B", "Mucosal neuromata with endocrine tumors", "Multiple endocrine neoplasia type 3", and "Wagenmann-Froboese syndrome") is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. (
  • It is the most severe type of multiple endocrine neoplasia, differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies. (
  • introduced the term "multiple endocrine neoplasia" (MEN) to describe disorders featuring combinations of endocrine tumors and proposed the terms 'Wermer syndrome' for MEN 1 and 'Sipple syndrome' for MEN 2. (
  • Primary hyperparathyroidism in 80% of cases is due to a single benign tumor known as a parathyroid adenoma with most of the rest of the cases due to a multiple benign tumors. (
  • The Pacak-Zhuang syndrome is a recently described disease manifestation in females that includes multiple paragangliomas and somatostatinomas (in some), both neuroendocrine tumors, and secondary polycythemia associated with high erythropoietin levels. (

Mucosal Neuroma Syndrome

  • P. J. Morrison and N. C. Nevin, "Multiple Endocrine Neoplasia Type 2B (Mucosal Neuroma Syndrome, Wagenmann-Froboese Syndrome)," Journal of Medical Genetics, Vol. 33, No. 9, 1996, pp. 779-782. (
  • reported cases of a difference disease-the "multiple mucosal neuroma syndrome"-having the physical phenotype of MEN2B, but without variations in the RET gene and without malignancy. (


  • These types of mutations are associated with papillary thyroid carcinoma (PTC), and the fusion oncoproteins generated are termed RET/PTC proteins. (
  • In 1993 mutations in the RET oncogene were shown to be the cause of MEN 2A by Lois Mulligan, working in the laboratory of Bruce Ponder in Cambridge. (
  • Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (
  • Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. (


  • Although not transmitted in the germline, McCune-Albright syndrome is a genetic disorder characterized by endocrine neoplastic features involving endocrine glands that overlap with those involved in MEN1 or MEN2. (


  • Broadly speaking, endocrine disorders may be subdivided into three groups: Endocrine gland hyposecretion (leading to hormone deficiency) Endocrine gland hypersecretion (leading to hormone excess) Tumours (benign or malignant) of endocrine glands Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. (


  • Endocrine diseases are disorders of the endocrine system. (
  • The branch of medicine associated with endocrine disorders is known as endocrinology. (


  • Pacak K, Chew E, Pappo A, Yang C, Lorenzo F, Wilson M, Aronow M, Young J, Popovic V, and Zhuang Z. Ocular Manifestations of Hypoxia-Inducible Factor-2A Paranglioma-Somatostatinoma-Polycythemia Syndrome. (


  • Multiple Endocrine Neoplasia Type 2 Ret Protooncogene Database: Repository of Men2-Associated Ret Sequence Variation and Reference for Genotype/Phenotype Correlations," Human Mutation, Vol. 30, No. 4, 2009, pp. 548-556. (


  • The older names, "multiple endocrine adenomas" and "multiple endocrine adenomatosis" (MEA), have been replaced by the current terminology. (


  • Carcinoma of the thyroid gland is the most common malignancy of the endocrine system. (


  • Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618. (


  • In different types of cancer, a variety of epigenetic mechanisms can be perturbed, such as silencing of tumor suppressor genes and activation of oncogenes by altered CpG island methylation patterns, histone modifications, and dysregulation of DNA binding proteins. (


  • Luxol fast blue staining identifies myelin sheathing of some fibers, and lesional cells react immunohistochemically for S-100 protein, collagen type IV, vimentin, NSE, and neural filaments. (
  • Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform is an enzyme that in humans is encoded by the PPP2R5B gene. (
  • Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. (


  • Multiple endocrine neoplasia type 2 (MEN 2) is caused by a RET mutation in chromosome 10. (


  • Guidelines for diagnosis and therapy of MEN type 1 and type 2. (
  • Diagnosis is primarily performed via fine needle aspiration of the lesion of the thyroid to distinguish it from other types of thyroid lesions. (


  • In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. (


  • 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. (


  • The age-related risk of MTC is associated with the type of RET mutation. (
  • What the family might also share, though, is a genetic mutation that puts some of them at risk for a certain type of cancer. (
  • Both types increase the risk of weak bones. (


  • Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. (


  • Multiple endocrine neoplasia is more likely to be associated with childhood and adolescent primary hyperparathyroidism. (

syndrome type

  • Impact of Screening Kindreds for SDHD p.Cys11X as a Common Mutation Associated with Paraganglioma Syndrome Type 1. (


  • His team pinpointed the RET gene as the cause of Multiple endocrine neoplasia type 2. (


  • Skeletal lesions can be specifically bilateral, symmetric and multifocal, exhibiting different types of bone resorption. (


  • Further investigations are required to examine possible association between the RET mutational pattern and type of disease expression as intestinal aganglionosis. (


  • The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. (


  • The product of this gene belongs to the phosphatase 2A regulatory subunit B family. (


  • Prophylactic thyroidectomy in children who are carriers of a multiple endocrine neoplasia type 2 mutation: description of 20 cases and recommendations based on the literature]. (


  • There are five types of standard treatment for thyroid cancer. (



  • Percentages in table below refer to how large fraction of people with the MEN type develop the neoplasia type. (


  • This type of epigenetic mutation allows cells to grow and reproduce uncontrollably, leading to tumorigenesis. (