Paraganglioma
Paraganglioma, Extra-Adrenal
Succinate Dehydrogenase
Pheochromocytoma
Carotid Body Tumor
Glomus Jugulare Tumor
Abdominal Neoplasms
Cauda Equina
Retroperitoneal Neoplasms
3-Iodobenzylguanidine
Electron Transport Complex II
Germ-Line Mutation
Peripheral Nervous System Neoplasms
Normetanephrine
Metanephrine
Para-Aortic Bodies
Cervicoplasty
Aortic Bodies
Somatostatinoma
Hypoglossal Nerve Diseases
Tomography, X-Ray Computed
Spermatic Cord
Thoracic Neoplasms
Iodobenzenes
Head and Neck Neoplasms
Carney Complex
Cranial Nerve Neoplasms
Vanilmandelic Acid
Synaptophysin
Chromogranin A
Paraganglia, Nonchromaffin
Third International Meeting on von Hippel-Lindau disease. (1/288)
Five years after the identification of the von Hippel-Lindau (VHL) gene, physicians, scientists and concerned VHL family members met to review the current state of knowledge on the diagnosis and treatment of VHL and to summarize the latest information on the biochemistry of the VHL protein (pVHL). The NIH and University of Pennsylvania groups reported the detection of germ-line mutations in 100% (93 of 93) of VHL families studied. Several studies determined the frequency of VHL germ-line mutations in individuals with a single manifestation of VHL without a family history of VHL. National groups to improve the diagnosis and treatment of individuals with VHL disease have been established in Great Britain, Denmark, France, Holland, Italy, Japan, Poland, and the United States. Evidence for the existence of genes that modify the expression of VHL was presented. The VHL protein appears to have several distinct functions: (a) down-regulation of hypoxia-inducible mRNAs; (b) proper assembly of the extracellular fibronectin matrix; (c) regulation of exit from the cell cycle; and (d) regulation of expression of carbonic anhydrases 9 and 12. (+info)Paraganglioma in the frontal skull base--case report. (2/288)
A 56-year-old female presented with a paraganglioma in the left anterior cranial fossa who manifesting as persistent headache. Computed tomography and magnetic resonance imaging showed a solid, enhanced tumor with a cystic component located medially. The tumor was attached to the left frontal base and the sphenoid ridge. Angiography demonstrated a hypervascular tumor fed mainly by the left middle meningeal artery at the left sphenoid ridge. The preoperative diagnosis was meningioma of the left frontal base. The tumor was totally resected via a left frontotemporal craniotomy. Histological examination revealed the characteristic cellular arrangement of paraganglioma generally designated as the "Zellbaren pattern" on light microscopy. Only 10 patients with supratentorial paraganglioma have been reported, seven located in the parasellar area. The origin of the present tumor may have been the paraganglionic cells which strayed along the middle meningeal artery at differentiation. (+info)The antiangiogenic agent linomide inhibits the growth rate of von Hippel-Lindau paraganglioma xenografts to mice. (3/288)
The aim of this study was to ascertain the potential usefulness of the antiangiogenic compound linomide for treatment of von Hippel-Lindau (VHL)-related tumors. Paraganglioma tissue fragments obtained at surgery from a VHL type 2a patient were transplanted s.c. to male BALB/c nu/nu (nude) mice: (a) 2-3-mm fragments for "prevention" experiments; and (b) 2-3-mm fragments allowed to grow to 1 cm for "intervention" studies. Both groups received either 0.5 mg/ml linomide in drinking water or acidified water and were followed until tumor diameter reached 3 cm or for 4 weeks. In both the prevention and intervention experiments, a significant diminution of tumor size and weight was observed in the drug-treated animals. In vivo nuclear magnetic resonance analysis of tumor blood flow in linomide-treated animals showed localization of blood vessels almost exclusively to the periphery of the poorly vascularized tumors with a significant reduction of both vascular functionality and vasodilation. Histological examination of tumors from linomide-treated animals revealed marked avascularity. Treated animals also displayed a 2.4-fold reduction of tumor vascular endothelial growth factor mRNA levels. Taken together, our data indicate that in VHL disease, therapy directed at inhibition of constitutively expressed VEGF induction of angiogenesis by VHL tumors may constitute an effective medical treatment. (+info)Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (4/288)
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology. (+info)Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology. (5/288)
Pheochromocytomas and abdominal paragangliomas are rare, catecholamine-producing tumors that arise from the chromaffin cells derived from the neural crest. We used comparative genomic hybridization (CGH) to screen for copy number changes in 23 pheochromocytomas and 11 abdominal paragangliomas. The pattern of copy number changes was similar between pheochromocytomas and paragangliomas, with the most consistent finding being loss of 1cen-p31, which was detected in 28/34 tumors (82%). Losses were also found on 3q22-25 (41%), 11p (26%), 3p13-14 (24%), 4q (21%), 2q (15%), and 11q22-23 (15%), and gains were detected on 19p (26%), 19q (24%), 17q24-qter (21%), 11cen-q13 (15%), and 16p (15%). Losses of 1p and 3q were detected in the majority of tumors, whereas gains of 19p and q, 17q, and 16p were seen only in tumors with six or more CGH alterations. This progression of genetic events did not correspond with the conversion to a malignant phenotype. CGH alterations involving chromosome 11 were more frequent in the malignant tumors, compared with the benign tumors (9/12 versus 3/16). In summary, we propose that pheochromocytomas and abdominal paragangliomas, which share many clinical features, also have a common genetic origin and that the loss of 1cen-p31 represents an early and important event in tumor development. (+info)Vascularization of head and neck paragangliomas: comparison of three MR angiographic techniques with digital subtraction angiography. (6/288)
BACKGROUND AND PURPOSE: MR angiography of the head and neck region has been studied widely, but few studies have been performed concerning the efficacy of MR angiography for the identification of the specific vascular supply of the highly vascular head and neck paragangliomas. In this study, we compared three MR angiography techniques with respect to visualization of branch arteries in the neck and identification of tumor feeders in patients with paragangliomas. METHODS: Fourteen patients with 29 paragangliomas were examined at 1.5 T using 3D phase-contrast (PC), 2D time-of-flight (2D TOF), and multi-slab 3D TOF MR angiography. In the first part of the study, two radiologists independently evaluated the visibility of first-, second-, and third-order branch arteries in the neck. In the second part of the study, the number of feeding arteries for every paraganglioma was determined and compared with digital subtraction angiography (DSA), the standard of reference in this study. RESULTS: Three-dimensional TOF angiography was superior to the other MR angiography techniques studied (P < .05) for depicting branch arteries of the external carotid artery in the neck, but only first- and second-order vessels were reliably shown. DSA showed a total of 78 feeding arteries in the group of patients with 29 paragangliomas, which was superior to what was revealed by all MR angiography techniques studied. More tumor feeders were identified with 3D TOF and 2D TOF angiography than with 3D PC MR angiography (P < .05), with a sensitivity/specificity of 61%/98%, 54%/95%, and 31%/95%, respectively. Sensitivity was lowest for carotid body tumors. CONCLUSION: Compared with intra-arterial DSA, the 3D TOF MR angiography technique was superior to 3D PC and 2D TOF MR angiography for identifying the first- and second-order vessels in the neck. With 3D TOF angiography, more tumor feeders were identified than with the other MR angiography techniques studied. The sensitivity of MR angiography, however, is not high enough to reveal important vascularization. The sensitivity of MR angiography is too low to replace DSA, especially in the presence of carotid body tumors. (+info)Paraganglioma of cauda equina: a case report. (7/288)
Histopathologically and immunologically confirmed case of paraganglioma of cauda equina region is described. (+info)Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (8/288)
Most pheochromocytomas are sporadic but about 10% are though to be hereditary. Although the etiology of most inherited pheochromocytoma is well known, little is known about the etiology of the more common sporadic tumor. Recently, germ-line mutations of SDHD, a mitochondria complex II gene, were found in patients with hereditary paraganglioma. We sought to determine whether SDHD plays a role in the development of sporadic pheochromocytomas and performed a mutation and deletion analysis of SDHD. Among 18 samples, we identified 4 heterozygous sequence variants (3 germ-line, 1 somatic). One germ-line SDHD mutation IVS1+2T>G (absent among 78 control alleles) is predicted to cause aberrant splicing. On reinvestigation, this patient was found to have a tumor of the carotid body, which was likely a paraganglioma. Another patient with malignant, extra-adrenal pheochromocytoma was found to have germ-line c.34G> A (G12S). However, this sequence variant was also found in 1 of 78 control alleles. The third, germ-line nonsense mutation R38X was found in a patient with extra-adrenal pheochromocytoma. The only somatic heterozygous mutation, c.242C>T (P81L), has been found in the germ line of two families with hereditary paraganglioma and is conserved among four eukaryotic multicellular organisms. Hence, this mutation is most likely of functional significance too. Overall, loss of heterozygosity in at least one of the two markers flanking SDHD was found in 13 tumors (72%). All of the tumors that already harbored intragenic SDHD mutations, whether germ-line or somatic, also had loss of heterozygosity. Our results indicate that SDHD plays a role in the pathogenesis of pheochromocytoma. Given the minimum estimated germline SDHD mutation frequency of 11% (maximum estimate up to 17%) in this set of apparently sporadic pheochromocytoma cases and if these data can be replicated in other populations, our observations might suggest that all such patients be considered for SDHD mutation analysis. (+info)Paraganglioma is a rare type of tumor that develops in the nervous system, specifically in the paraganglia. Paraganglia are clusters of specialized nerve cells throughout the body that release hormones in response to stress or physical activity. Most paragangliomas are benign (noncancerous), but some can be malignant (cancerous) and may spread to other parts of the body.
Paragangliomas can occur in various locations, including the head and neck region (called "head and neck paragangliomas") or near the spine, abdomen, or chest (called "extra-adrenal paragangliomas"). When they develop in the adrenal glands, which are located on top of each kidney, they are called pheochromocytomas.
Paragangliomas can produce and release hormones such as epinephrine (adrenaline) and norepinephrine, leading to symptoms like high blood pressure, rapid heart rate, sweating, anxiety, and headaches. Treatment typically involves surgical removal of the tumor, along with medications to manage symptoms and control hormone levels before and after surgery.
Paraganglioma, extra-adrenal, is a type of rare tumor that develops in the nervous system's paraganglia, which are groups of specialized cells that are responsible for regulating blood pressure and other bodily functions. Unlike adrenal paragangliomas, which form in the adrenal glands located on top of the kidneys, extra-adrenal paragangliomas develop outside of the adrenal glands, in various locations along the sympathetic and parasympathetic nervous systems. These tumors can be functional or nonfunctional, meaning they may or may not produce hormones such as catecholamines (epinephrine, norepinephrine, and dopamine). Functional extra-adrenal paragangliomas can cause symptoms related to excessive hormone production, including hypertension, sweating, headaches, and rapid heartbeat. Treatment typically involves surgical removal of the tumor, along with preoperative preparation to manage potential hormonal imbalances.
Succinate dehydrogenase (SDH) is an enzyme complex that plays a crucial role in the process of cellular respiration, specifically in the citric acid cycle (also known as the Krebs cycle) and the electron transport chain. It is located in the inner mitochondrial membrane of eukaryotic cells.
SDH catalyzes the oxidation of succinate to fumarate, converting it into a molecule of fadaquate in the process. During this reaction, two electrons are transferred from succinate to the FAD cofactor within the SDH enzyme complex, reducing it to FADH2. These electrons are then passed on to ubiquinone (CoQ), which is a mobile electron carrier in the electron transport chain, leading to the generation of ATP, the main energy currency of the cell.
SDH is also known as mitochondrial complex II because it is the second complex in the electron transport chain. Mutations in the genes encoding SDH subunits or associated proteins have been linked to various human diseases, including hereditary paragangliomas, pheochromocytomas, gastrointestinal stromal tumors (GISTs), and some forms of neurodegenerative disorders.
Pheochromocytoma is a rare type of tumor that develops in the adrenal glands, which are triangular-shaped glands located on top of each kidney. These tumors produce excessive amounts of hormones called catecholamines, including adrenaline and noradrenaline. This can lead to a variety of symptoms such as high blood pressure, sweating, headaches, rapid heartbeat, and anxiety.
Pheochromocytomas are typically slow-growing and can be benign or malignant (cancerous). While the exact cause of these tumors is not always known, some genetic factors have been identified that may increase a person's risk. Treatment usually involves surgical removal of the tumor, along with medications to manage symptoms and control blood pressure before and after surgery.
A carotid body tumor is a rare, usually noncancerous (benign) growth that develops in the carotid body, a small structure located near the bifurcation (fork) of the common carotid artery in the neck. The carotid body is part of the chemoreceptor system that helps regulate breathing and blood pressure by responding to changes in oxygen, carbon dioxide, and pH levels in the blood.
Carotid body tumors are also known as carotid body paragangliomas or chemodectomas. They typically grow slowly and may not cause any symptoms for many years. However, as they enlarge, they can cause a visible or palpable mass in the neck, along with symptoms such as difficulty swallowing, hoarseness, or voice changes. In some cases, carotid body tumors can compress nearby nerves or blood vessels, leading to more serious complications like stroke or nerve damage.
Treatment for carotid body tumors typically involves surgical removal of the growth, which may be performed using traditional open surgery or minimally invasive techniques such as endovascular surgery or robotic-assisted surgery. Radiation therapy and chemotherapy are generally not effective in treating these tumors. Regular follow-up care is important to monitor for recurrence or development of new tumors.
Adrenal gland neoplasms refer to abnormal growths or tumors in the adrenal glands. These glands are located on top of each kidney and are responsible for producing hormones that regulate various bodily functions such as metabolism, blood pressure, and stress response. Adrenal gland neoplasms can be benign (non-cancerous) or malignant (cancerous).
Benign adrenal tumors are called adenomas and are usually small and asymptomatic. However, some adenomas may produce excessive amounts of hormones, leading to symptoms such as high blood pressure, weight gain, and mood changes.
Malignant adrenal tumors are called adrenocortical carcinomas and are rare but aggressive cancers that can spread to other parts of the body. Symptoms of adrenocortical carcinoma may include abdominal pain, weight loss, and hormonal imbalances.
It is important to diagnose and treat adrenal gland neoplasms early to prevent complications and improve outcomes. Diagnostic tests may include imaging studies such as CT scans or MRIs, as well as hormone level testing and biopsy. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
A Glomus Jugulare Tumor is a rare, usually benign, slow-growing tumor that develops from the glomus body, a small collection of modified blood vessels involved in temperature regulation, located near the jugular bulb in the skull. This type of tumor can cause symptoms such as hearing loss, pulsatile tinnitus (a rhythmic sound in the ear), and cranial nerve palsies due to its proximity to critical structures in the head and neck. Treatment typically involves surgical removal or radiation therapy.
Abdominal neoplasms refer to abnormal growths or tumors in the abdomen that can be benign (non-cancerous) or malignant (cancerous). These growths can occur in any of the organs within the abdominal cavity, including the stomach, small intestine, large intestine, liver, pancreas, spleen, and kidneys.
Abdominal neoplasms can cause various symptoms depending on their size, location, and type. Some common symptoms include abdominal pain or discomfort, bloating, changes in bowel habits, unexplained weight loss, fatigue, and fever. In some cases, abdominal neoplasms may not cause any symptoms until they have grown quite large or spread to other parts of the body.
The diagnosis of abdominal neoplasms typically involves a combination of physical exam, medical history, imaging studies such as CT scans or MRIs, and sometimes biopsy to confirm the type of tumor. Treatment options depend on the type, stage, and location of the neoplasm but may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches.
The Cauda Equina refers to a bundle of nerves at the lower end of the spinal cord within the vertebral column. It originates from the lumbar (L1-L5) and sacral (S1-S5) regions and looks like a horse's tail, hence the name "Cauda Equina" in Latin. These nerves are responsible for providing motor and sensory innervation to the lower extremities, bladder, bowel, and sexual organs. Any damage or compression to this region can lead to serious neurological deficits, such as bowel and bladder incontinence, sexual dysfunction, and lower limb weakness or paralysis.
Retroperitoneal neoplasms refer to abnormal growths or tumors that develop in the retroperitoneal space. This is the area located behind the peritoneum, which is the membrane that lines the abdominal cavity and covers the abdominal organs. The retroperitoneal space contains several vital structures such as the kidneys, adrenal glands, pancreas, aorta, and lymphatic vessels.
Retroperitoneal neoplasms can be benign or malignant (cancerous). Malignant retroperitoneal neoplasms are often aggressive and can invade surrounding tissues and organs, leading to various complications. Common types of retroperitoneal neoplasms include lymphomas, sarcomas, and metastatic tumors from other primary sites. Symptoms may vary depending on the size and location of the tumor but can include abdominal or back pain, weight loss, and swelling in the legs. Diagnosis typically involves imaging studies such as CT scans or MRI, followed by a biopsy to determine the type and grade of the tumor. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
3-Iodobenzylguanidine (3-IBG) is a radioactive tracer drug that is used in nuclear medicine to help diagnose and evaluate pheochromocytomas and paragangliomas, which are rare tumors of the adrenal glands or nearby nerve tissue. It works by accumulating in the cells of these tumors, allowing them to be detected through imaging techniques such as single-photon emission computed tomography (SPECT) scans.
The drug contains a radioactive isotope of iodine (I-123 or I-131) that emits gamma rays, which can be detected by a gamma camera during the imaging procedure. The 3-IBG molecule also includes a guanidine group, which selectively binds to the norepinephrine transporter (NET) on the surface of the tumor cells, allowing the drug to accumulate within the tumor tissue.
It is important to note that the use of 3-IBG should be under the supervision of a qualified healthcare professional, as it involves exposure to radiation and may have potential side effects.
Electron Transport Complex II, also known as succinate-Q oxidoreductase, is a key component of the electron transport chain in the inner mitochondrial membrane. It plays a crucial role in the process of cellular respiration, where it facilitates the transfer of electrons from succinate to ubiquinone (Q), thereby generating a proton gradient across the membrane. This gradient drives the synthesis of ATP, which is the primary source of energy for the cell.
The complex is composed of four core subunits: flavoprotein (Fp), iron-sulfur protein (Ip), cytochrome b (Cyb), and ubiquinone-binding protein (Qp). Electrons from succinate are accepted by FAD in the Fp subunit, and then transferred to the Ip subunit containing iron-sulfur clusters. From there, the electrons are moved to heme groups in the Cyb subunit, and finally passed on to ubiquinone at the Qp subunit.
In addition to its role in the electron transport chain, Complex II has been implicated in various cellular processes such as regulation of reactive oxygen species (ROS) production and modulation of apoptosis. Mutations in genes encoding Complex II subunits have been associated with several human diseases, including neurodegenerative disorders and cancer.
A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.
Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.
It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.
Peripheral nervous system (PNS) neoplasms refer to tumors that originate in the peripheral nerves, which are the nerves outside the brain and spinal cord. These tumors can be benign or malignant (cancerous). Benign tumors, such as schwannomas and neurofibromas, grow slowly and do not spread to other parts of the body. Malignant tumors, such as malignant peripheral nerve sheath tumors (MPNSTs), can invade nearby tissues and may metastasize (spread) to other organs.
PNS neoplasms can cause various symptoms depending on their location and size. Common symptoms include pain, weakness, numbness, or tingling in the affected area. In some cases, PNS neoplasms may not cause any symptoms until they become quite large. Treatment options for PNS neoplasms depend on several factors, including the type, size, and location of the tumor, as well as the patient's overall health. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Normetanephrine is defined as a major metabolite of epinephrine (adrenaline), which is formed by the action of catechol-O-methyltransferase (COMT) on metanephrine. It is primarily produced in the adrenal gland and is also found in the sympathetic nervous system. Normetanephrine is often measured in clinical testing to help diagnose pheochromocytoma, a rare tumor of the adrenal glands that can cause high blood pressure and other symptoms due to excessive production of catecholamines. Increased levels of normetanephrine in the urine or plasma may indicate the presence of a pheochromocytoma or other conditions associated with increased catecholamine release.
Metanephrine is a catecholamine metabolite, specifically a derivative of epinephrine (adrenaline). It is formed in the body through the metabolic breakdown of epinephrine by the enzyme catechol-O-methyltransferase (COMT). Metanephrines, including metanephrine and normetanephrine, are primarily produced in the adrenal glands but can also be found in other tissues in smaller amounts.
Elevated levels of metanephrines in the blood or urine may indicate a pheochromocytoma, a rare tumor originating from the chromaffin cells of the adrenal medulla, or a paraganglioma, a similar type of tumor located outside the adrenal glands. These tumors can cause excessive production of catecholamines, including epinephrine and norepinephrine, leading to increased metanephrine levels.
It is essential to differentiate between metanephrine and normetanephrine as they have distinct clinical implications. Normetanephrine is a derivative of norepinephrine (noradrenaline), while metanephrine originates from epinephrine. The measurement of both free metanephrines and normetanephrines in plasma or urine is often used to diagnose and monitor pheochromocytomas and paragangliomas.
Para-aortic bodies, also known as autonomic ganglia or para-aortic chains, are clusters of nerve cells (ganglia) located near the aorta, the largest artery in the body. These ganglia are part of the autonomic nervous system, which controls involuntary bodily functions such as heart rate, digestion, and respiratory rate.
The para-aortic bodies are primarily responsible for regulating the function of the organs in the abdomen and pelvis. They receive input from sensory neurons and send output to effector organs through a complex network of nerves. The neurotransmitters acetylcholine and noradrenaline are released at these ganglia to mediate the transmission of signals between nerve cells.
These structures can be important in the diagnosis and treatment of certain medical conditions, such as neuroblastoma, a type of cancer that arises from immature nerve cells in infants and children. In some cases, surgical removal of para-aortic bodies may be necessary to treat this condition.
Cervicoplasty is a surgical procedure that involves the removal and reconstruction of the cervix, which is the lower part of the uterus. This procedure is typically performed to correct abnormalities or deformities of the cervix, such as those caused by cancer, radiation therapy, or traumatic injury.
During a cervicoplasty, the surgeon removes a portion or all of the cervix and then reconstructs the remaining tissue to restore normal function and appearance. This procedure may be performed using various surgical techniques, including cold knife conization, laser surgery, or loop electrosurgical excision (LEEP).
The specific goals and techniques used in a cervicoplasty will depend on the individual patient's needs and medical history. It is important to discuss the risks and benefits of this procedure with a qualified healthcare provider before making any treatment decisions.
Aortic bodies, also known as aortic arch chemoreceptors or simply as carotid and aortic bodies, are small clusters of nerve cells located near the bifurcation of the common carotid artery (carotid body) and in the wall of the aortic arch (aortic body). They are part of the peripheral chemoreceptor system that responds to changes in chemical composition of the blood, particularly to decreases in oxygen levels, increases in carbon dioxide levels, and changes in pH. These receptors send signals to the brainstem, which in turn regulates breathing rate and depth to maintain adequate gas exchange and acid-base balance in the body.
Mediastinal neoplasms refer to abnormal growths or tumors located in the mediastinum, which is the central compartment of the thoracic cavity that lies between the lungs and contains various vital structures such as the heart, esophagus, trachea, blood vessels, lymph nodes, and nerves. Mediastinal neoplasms can be benign (non-cancerous) or malignant (cancerous), and they can arise from any of the tissues or organs within the mediastinum.
Benign mediastinal neoplasms may include thymomas, lipomas, neurofibromas, or teratomas, among others. These tumors are typically slow-growing and rarely spread to other parts of the body. However, they can still cause symptoms or complications by compressing adjacent structures within the mediastinum, such as the airways, blood vessels, or nerves.
Malignant mediastinal neoplasms are cancerous tumors that can invade and destroy surrounding tissues and may spread (metastasize) to other parts of the body. Common types of malignant mediastinal neoplasms include thymic carcinomas, lymphomas, germ cell tumors, and neuroendocrine tumors. These tumors often require aggressive treatment, such as surgery, radiation therapy, and chemotherapy, to control their growth and spread.
It is important to note that mediastinal neoplasms can present with various symptoms depending on their location, size, and type. Some patients may be asymptomatic, while others may experience cough, chest pain, difficulty breathing, hoarseness, or swallowing difficulties. A thorough diagnostic workup, including imaging studies and biopsies, is necessary to confirm the diagnosis and determine the best course of treatment for mediastinal neoplasms.
Genital neoplasms in males refer to abnormal growths or tumors that develop in the male reproductive organs. These can be benign (non-cancerous) or malignant (cancerous).
Malignant genital neoplasms are often referred to as genital cancers. The most common types of male genital cancers include:
1. Penile Cancer: This occurs when cancer cells form in the tissues of the penis.
2. Testicular Cancer: This forms in the testicles (testes), which are located inside the scrotum.
3. Prostate Cancer: This is a common cancer in men, forming in the prostate gland, which is part of the male reproductive system that helps make semen.
4. Scrotal Cancer: This is a rare form of cancer that forms in the skin or tissue of the scrotum.
5. Penile Intraepithelial Neoplasia (PeIN): This is not cancer, but it is considered a pre-cancerous condition of the penis.
Early detection and treatment of genital neoplasms can significantly improve the prognosis. Regular self-examinations and medical check-ups are recommended, especially for individuals with risk factors such as smoking, HIV infection, or a family history of these cancers.
Somatostatinoma is a rare type of neuroendocrine tumor that originates from the delta cells (D cells) of the diffuse endocrine system, which are responsible for producing and secreting somatostatin, a hormone that inhibits the release of several other hormones. These tumors can occur in various organs, but they most commonly arise in the pancreas and the small intestine (duodenum).
Somatostatinomas are typically slow-growing and can be functional or nonfunctional. Functional somatostatinomas actively produce and secrete excessive amounts of somatostatin, which can lead to a variety of clinical symptoms due to the inhibition of other hormones' functions. Nonfunctional somatostatinomas do not secrete significant amounts of somatostatin and are often discovered incidentally during imaging studies or when they cause local mass effects.
Common symptoms associated with functional somatostatinomas include diarrhea, abdominal pain, weight loss, fat malabsorption, and steatorrhea (fatty stools). They can also lead to diabetes mellitus due to the inhibition of insulin secretion. Additionally, these tumors may cause symptoms related to hormone deficiencies or the compression of nearby structures, depending on their location.
Diagnosis typically involves imaging studies such as CT scans, MRI, and PET scans, along with biochemical tests to measure somatostatin levels in the blood. A definitive diagnosis usually requires a tissue biopsy or surgical removal of the tumor for histopathological examination. Treatment options include surgery, chemotherapy, radiation therapy, and targeted therapies, depending on the stage and location of the tumor.
The hypoglossal nerve, also known as the 12th cranial nerve (CN XII), is primarily responsible for controlling tongue movements. Hypoglossal nerve diseases refer to conditions that affect this nerve and result in various tongue-related symptoms. These disorders can be congenital or acquired, and they may stem from different causes such as trauma, tumors, infections, inflammation, or degenerative processes.
Hypoglossal nerve diseases can present with the following symptoms:
1. Weakness or paralysis of the tongue muscles on one or both sides.
2. Deviation of the tongue towards the affected side when protruded.
3. Fasciculations (involuntary muscle twitches) or atrophy (wasting) of the tongue muscles.
4. Difficulty with speaking, swallowing, and chewing due to tongue weakness.
5. Changes in taste and sensation on the back of the tongue and throat.
Some specific hypoglossal nerve diseases include:
1. Hypoglossal nerve palsy: A condition characterized by unilateral or bilateral weakness or paralysis of the tongue due to damage to the hypoglossal nerve. Causes can include trauma, tumors, stroke, multiple sclerosis, or other neurological disorders.
2. Hypoglossal neuritis: Inflammation of the hypoglossal nerve, often caused by viral infections or autoimmune processes, leading to tongue weakness and atrophy.
3. Congenital hypoglossal nerve anomalies: Abnormal development of the hypoglossal nerve during fetal growth can result in various tongue-related symptoms and difficulties with speech and swallowing.
4. Tumors affecting the hypoglossal nerve: Both benign and malignant tumors, such as schwannomas or neurofibromas, can compress or infiltrate the hypoglossal nerve, causing weakness or paralysis.
5. Hypoglossal-facial anastomosis: A surgical procedure that connects the hypoglossal nerve to the facial nerve to restore facial movement in cases of facial nerve palsy. This connection can lead to tongue weakness as a side effect.
X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.
The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.
CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.
In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.
CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.
In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.
The spermatic cord is a fibrous structure that contains the vas deferens, blood vessels, nerves, and lymphatics, which provide passage for these structures between the abdomen and the scrotum in males. It is covered by several layers of protective sheaths, including the internal spermatic fascia, cremasteric fascia, and external spermatic fascia. The spermatic cord allows the testicles to be located outside the body, which helps maintain a cooler temperature for optimal sperm production.
Thoracic neoplasms refer to abnormal growths or tumors that develop in the thorax, which is the area of the body that includes the chest and lungs. These neoplasms can be benign (non-cancerous) or malignant (cancerous). Malignant thoracic neoplasms are often referred to as lung cancer, but they can also include other types of cancer such as mesothelioma, thymoma, and esophageal cancer.
Thoracic neoplasms can cause various symptoms depending on their location and size. Common symptoms include coughing, chest pain, shortness of breath, hoarseness, and difficulty swallowing. Treatment options for thoracic neoplasms depend on the type, stage, and location of the tumor, as well as the patient's overall health. Treatment may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches.
I'm sorry for any confusion, but "Peplomycin" is not a widely recognized or established medical term. It appears that it might be a term related to a specific type of antibiotic drug called "Pleuromutilin." Pleuromutilins are a class of antibiotics derived from certain types of fungi. Peplomycin could potentially be a specific formulation, brand name, or experimental version of a pleuromutilin antibiotic, but without more context, it is difficult to provide a precise definition. I would recommend consulting the original source or seeking additional information for clarification.
Iodobenzenes are organic compounds that contain a iodine atom (I) attached to a benzene ring. The general formula for iodobenzenes is C6H5I. They can be considered as aryl halides and can undergo various chemical reactions such as nucleophilic substitution, electrophilic aromatic substitution, and reduction. Iodobenzenes are less reactive than other aryl halides due to the larger size and lower electronegativity of iodine compared to other halogens. They are used in organic synthesis as building blocks or reagents for various chemical transformations.
Head and neck neoplasms refer to abnormal growths or tumors in the head and neck region, which can be benign (non-cancerous) or malignant (cancerous). These tumors can develop in various sites, including the oral cavity, nasopharynx, oropharynx, larynx, hypopharynx, paranasal sinuses, salivary glands, and thyroid gland.
Benign neoplasms are slow-growing and generally do not spread to other parts of the body. However, they can still cause problems if they grow large enough to press on surrounding tissues or structures. Malignant neoplasms, on the other hand, can invade nearby tissues and organs and may also metastasize (spread) to other parts of the body.
Head and neck neoplasms can have various symptoms depending on their location and size. Common symptoms include difficulty swallowing, speaking, or breathing; pain in the mouth, throat, or ears; persistent coughing or hoarseness; and swelling or lumps in the neck or face. Early detection and treatment of head and neck neoplasms are crucial for improving outcomes and reducing the risk of complications.
Carney Complex is a rare genetic disorder characterized by the development of various types of tumors and pigmented spots on the skin. It is caused by mutations in the PRKAR1A gene, which regulates the activity of enzymes involved in cell growth and division. The condition is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent has it.
The tumors associated with Carney Complex can develop in various parts of the body, including the heart, endocrine glands, and skin. Some common types of tumors include:
* Myxomas: benign tumors that typically develop in the heart, but can also occur in other parts of the body
* Pigmented nodular adrenocortical disease (PNAD): benign tumors that develop in the adrenal glands and produce excess hormones
* Thyroid tumors: benign or malignant tumors that develop in the thyroid gland
* Breast tumors: benign or malignant tumors that develop in the breast
* Skin tumors: including pigmented spots, skin tags, and growths
People with Carney Complex may also experience other symptoms such as Cushing's syndrome (a hormonal disorder caused by excess cortisol), acromegaly (a hormonal disorder caused by excess growth hormone), and various endocrine disorders.
Treatment for Carney Complex typically involves surgical removal of tumors when necessary, as well as monitoring for the development of new tumors and other symptoms. Regular follow-up with a healthcare provider is important to manage the condition and prevent complications.
Cranial nerve neoplasms refer to abnormal growths or tumors that develop within or near the cranial nerves. These nerves are responsible for transmitting sensory and motor information between the brain and various parts of the head, neck, and trunk. There are 12 pairs of cranial nerves, each with a specific function and location in the skull.
Cranial nerve neoplasms can be benign or malignant and may arise from the nerve itself (schwannoma, neurofibroma) or from surrounding tissues that invade the nerve (meningioma, epidermoid cyst). The growth of these tumors can cause various symptoms depending on their size, location, and rate of growth. Common symptoms include:
* Facial weakness or numbness
* Double vision or other visual disturbances
* Hearing loss or tinnitus (ringing in the ears)
* Difficulty swallowing or speaking
* Loss of smell or taste
* Uncontrollable eye movements or drooping eyelids
Treatment for cranial nerve neoplasms depends on several factors, including the type, size, location, and extent of the tumor, as well as the patient's overall health. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches. Regular follow-up care is essential to monitor for recurrence or complications.
Polycythemia is a medical condition characterized by an abnormal increase in the total red blood cell (RBC) mass or hematocrit (the percentage of RBCs in the blood). This results in a higher-than-normal viscosity of the blood, which can lead to various complications such as impaired circulation, increased risk of blood clots, and reduced oxygen supply to the tissues.
There are two main types of polycythemia: primary and secondary. Primary polycythemia, also known as polycythemia vera, is a rare myeloproliferative neoplasm caused by genetic mutations that lead to excessive production of RBCs in the bone marrow. Secondary polycythemia, on the other hand, is a reactive condition triggered by various factors such as chronic hypoxia (low oxygen levels), high altitude, smoking, or certain medical conditions like sleep apnea, heart disease, or kidney tumors.
Symptoms of polycythemia may include fatigue, headaches, dizziness, shortness of breath, itching, and a bluish or reddish tint to the skin (cyanosis). Treatment depends on the underlying cause and severity of the condition and may involve phlebotomy, medications to reduce RBC production, and management of associated complications.
Catecholamines are a group of hormones and neurotransmitters that are derived from the amino acid tyrosine. The most well-known catecholamines are dopamine, norepinephrine (also known as noradrenaline), and epinephrine (also known as adrenaline). These hormones are produced by the adrenal glands and are released into the bloodstream in response to stress. They play important roles in the "fight or flight" response, increasing heart rate, blood pressure, and alertness. In addition to their role as hormones, catecholamines also function as neurotransmitters, transmitting signals in the nervous system. Disorders of catecholamine regulation can lead to a variety of medical conditions, including hypertension, mood disorders, and neurological disorders.
Vanilmandelic acid (VMA) is a metabolite produced in the body as a result of the breakdown of catecholamines, which are hormones such as dopamine, norepinephrine, and epinephrine. Specifically, VMA is the major end product of epinephrine and norepinephrine metabolism.
In clinical medicine, measurement of VMA in urine is often used as a diagnostic test for pheochromocytoma, a rare tumor that arises from the chromaffin cells of the adrenal gland and can cause excessive production of catecholamines. Elevated levels of VMA in the urine may indicate the presence of a pheochromocytoma or other conditions associated with increased catecholamine secretion, such as neuroblastoma or ganglioneuroma.
It's important to note that while VMA is a useful diagnostic marker for pheochromocytoma and related conditions, it is not specific to these disorders and can be elevated in other medical conditions as well. Therefore, the test should be interpreted in conjunction with other clinical findings and diagnostic tests.
Synaptophysin is a protein found in the presynaptic vesicles of neurons, which are involved in the release of neurotransmitters during synaptic transmission. It is often used as a marker for neuronal differentiation and is widely expressed in neuroendocrine cells and tumors. Synaptophysin plays a role in the regulation of neurotransmitter release and has been implicated in various neurological disorders, including Alzheimer's disease and synaptic dysfunction-related conditions.
Chromogranin A is a protein that is widely used as a marker for neuroendocrine tumors. These are tumors that arise from cells of the neuroendocrine system, which is a network of cells throughout the body that produce hormones and help to regulate various bodily functions. Chromogranin A is stored in secretory granules within these cells and is released into the bloodstream when the cells are stimulated to release their hormones.
Chromogranin A is measured in the blood as a way to help diagnose neuroendocrine tumors, monitor the effectiveness of treatment, and track the progression of the disease. Elevated levels of chromogranin A in the blood may indicate the presence of a neuroendocrine tumor, although other factors can also cause an increase in this protein.
It's important to note that while chromogranin A is a useful marker for neuroendocrine tumors, it is not specific to any one type of tumor and should be used in conjunction with other diagnostic tests and clinical evaluation.
Paraganglia, nonchromaffin are neuroendocrine tissues that originate from the neural crest and are widely distributed throughout the body. They are similar to chromaffin paraganglia (which contain catecholamines) but do not contain catecholamines or only contain them in trace amounts. Instead, they produce and secrete various neuropeptides and hormones, such as serotonin, somatostatin, and calcitonin gene-related peptide (CGRP).
Nonchromaffin paraganglia are divided into two main groups: the head and neck (HNP) and the thoracoabdominal (TAP) paraganglia. The HNP include the carotid body, jugular body, vagal body, and laryngeal paraganglia, while the TAP include the aorticopulmonary, organ of Zuckerkandl, and other abdominal and pelvic paraganglia.
Nonchromaffin paragangliomas are rare tumors that arise from these tissues. They can be functional or nonfunctional, depending on whether they produce and secrete hormones or not. Functional tumors can cause a variety of symptoms due to the excessive release of hormones, while nonfunctional tumors usually present as masses that may compress surrounding structures.
Paraganglioma
Gangliocytic paraganglioma
Hereditary cancer syndrome
Pheochromocytoma
SDHD
Neuroendocrine tumor
SDHAF2
List of OMIM disorder codes
The Cancer Genome Atlas
Organ of Zuckerkandl
Succinate dehydrogenase complex subunit C
Adrenal gland
Oncometabolism
Paraganglion
Zellballen
Adrenocortical adenoma
SDHB
EPAS1
Succinate dehydrogenase
Malate dehydrogenase 2
Iobenguane
Santosh G. Honavar
Takotsubo cardiomyopathy
Doxazosin
Schwartz sign
Catecholamine
SDHA
Chromaffin cell
Metirosine
Glomus tumor
Paraganglioma - Wikipedia
Hereditary paraganglioma-pheochromocytoma: MedlinePlus Genetics
Pheochromocytoma and paraganglioma-an update on diagnosis, evaluation, and management
Pathology of Urinary Bladder Paraganglioma: Definition, Clinical Features and Imaging, Gross Findings
The use of temozolomide in paediatric metastatic phaeochromocytoma/paraganglioma: A case report and literature review
Paragangliomas & Glomus Tumors | Paragangliomas Tumors
Multicentric Cervical Paraganglioma. Rare Case of Five Locations in One Patient. Case Report and Literature Review
A rare case of Calot's triangle paraganglioma | springermedizin.at
Paraganglioma of the Larynx | Journal of Pathology of Nepal
I-123 MIBG imaging of pheochromocytoma-paraganglioma syndrome with succinate dehydrogenase deficiency | Journal of Nuclear...
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma | Journal of Medical Genetics
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for...
Paraganglioma / Carotid Body Tumor Question | Mayo Clinic Connect
Paraganglioma & pheochromocytoma
Paraganglioma - Clinical Tree
paraganglioma QuickView - Correlation Engine
MedPix Case - Recurrence of paraganglioma
https://www.cancer.gov/types/childhood-cancers/hp/rare-childhood-cancers-pdq
Aspects of SDHA-Related Pheochromocytoma and Paraganglioma
Metastatic Cardiac Paraganglioma (Concept Id: C1334568) - MedGen - NCBI
Local Recurrence of Retroperitoneal Paraganglioma Treated Laparoscopically - CRSLS
April 2019 - Pheipas Pheochromocytoma i Paraganglioma Acción Solidaria
Understanding neuroendocrine medical terms
Feocromocitomas y los paragangliomas - Asociación sdh
OMIM - PARAGANGLIOMAS 4; PGL4 - OMIM - NCBI
NANETS/SNMMI Consensus Statement on Patient Selection and Appropriate Use of 177Lu-DOTATATE Peptide Receptor Radionuclide...
Endoscopic ultrasound findings in duodenal gangliocytic paraganglioma<...
Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma.
Gastric paraganglioma: a case report and a review of the literature
Is Paraganglioma A Neuroendocrine Tumor & Is There A Surgery For It?
Tumors36
- Mutations of SDHB play an important role in familial adrenal pheochromocytoma and extra-adrenal paraganglioma (of abdomen and thorax), although there is considerable overlap in the types of tumors associated with SDHB and SDHD gene mutations. (wikipedia.org)
- Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of tumors in structures called paraganglia. (medlineplus.gov)
- People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. (medlineplus.gov)
- Some paragangliomas and pheochromocytomas occur in people with no history of the tumors in their families and appear not to be inherited. (medlineplus.gov)
- Pheochromocytomas and paragangliomas (PPGLs) generally grouped together are rare catecholamine-secreting endocrine tumors. (nih.gov)
- As with other bladder tumors, hematuria is the most common symptom of bladder paraganglioma. (medscape.com)
- Paragangliomas tumors (sometimes referred to as glomus, as glomus cells are the place of origin) are a typically benign abnormal cell growth. (knowcancer.com)
- Whole-body I-123 MIBG or I-131 MIBG scintigraphy was the first imaging used for the diagnosis and follow-up of catecholamine-secreting tumors, and is very useful in the detection of Pheochromocytoma-Paraganglioma syndrome. (snmjournals.org)
- Extra-adrenal tumors occurred in 28 mutation carriers (48%) and in 23 of 29 SDHA mutation carriers (79%), particularly with head and neck paraganglioma. (uni-regensburg.de)
- Under such conditions, it's important to seek a second opinion from a team that specializes in the care of people with rare neuroendocrine tumors such as paragangliomas. (mayoclinic.org)
- Paragangliomas (PGLs) are rare neuroendocrine tumors that carry the highest degree of heritability among human neoplasms. (medscape.com)
- Head and neck paragangliomas (HNPGLs) emerge from the parasympathetic nervous systemand are usually benign, slow-growing tumors. (medscape.com)
- Parasympathetic PGLs are most often nonsecreting, although about 30% are associated with elevated levels of the dopamine metabolite 3-methoxytyramine (3-MT). [ 5 ] Pheochromocytoma (PHEO) and sympathetic paraganglioma (SPGL) are catecholamine-secreting tumors. (medscape.com)
- AIM: Paragangliomas are neural crest-derived neuroendocrine tumors, originating from paraganglia, which are dispersed neuroendocrine organs characterized by catecholamine and peptide-producing cells. (unime.it)
- With an annual incidence estimated at 1/100,000, paragangliomas represent 10% of catecholamine secreting tumors. (unime.it)
- DISCUSSION: Pheochromocytoma indicates exclusively tumors arising from the adrenal medulla, while the extra-adrenal paraganglioma suggests tumors of the chromaffin cells with other locations. (unime.it)
- A major percentage of central nervous system paragangliomas manifest as carotid and slow-growing benign tumors. (epainassist.com)
- Paragangliomas are tumors originating from paraganglia cells which represent a considerable constituent of the dispersed neuroendocrine system. (unipr.it)
- This case highlights the importance of careful examination of pelvic tumors, including endocrine testing, for detecting paraganglioma of the urinary bladder in patients with a history of hypertension or arrhythmia. (biomedcentral.com)
- Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors formed from paraganglionic tissue. (encyclopedia.pub)
- Tumors developing from paraganglia outside the adrenal gland are termed paragangliomas (PGLs). (encyclopedia.pub)
- Imaging is the primary investigative modality for glomus tumors of the head and neck (paragangliomas). (naqlafshk.com)
- Paragangliomas and pheochromocytomas are sympathetic or parasympathetic tumors derived from the paraganglia and the adrenal medulla, respectively. (biomedcentral.com)
- Paragangliomas are neuroendocrine tumors that develop from cells outside the adrenal gland and are often recognized as extra-adrenal tumors. (bhimar.org)
- Paragangliomas are rare tumors that are frequently misdiagnosed, which is dangerous for patients. (bhimar.org)
- It can be difficult for imaging paragangliomas and other neuroendocrine tumors since they are often multifocal and hereditary, and have variable biological and metabolic activity. (bhimar.org)
- OBJECTIVE\nTo analyze the outcomes of the endoscopic transcanal approach for removal of early stage middle ear paraganglioma tumors (MEPT). (researchain.net)
- n\n\nPATIENTS\nAdult patients with middle ear paraganglioma tumors treated with transcanal endoscopic approach from 2/2016 to 12/2019. (researchain.net)
- Functioning paraganglioma and gastrointestinal stromal tumor (GIST) are uncommon tumors that occur mostly in a sporadic and isolated form, occasionally as components of multiple neoplasia syndromes, either separately or together. (elsevierpure.com)
- Cauda equina paragangliomas are rare tumors and are known to be highly vascular. (scitechnol.com)
- Background: Succinate dehydrogenase (SDH) loss and mastermind-like 3 (MAML3) translocation are two clinically important genetic alterations that correlate with increased rates of metastasis in subtypes of human paraganglioma and pheochromocytoma (PPGL) neuroendocrine tumors. (elsevierpure.com)
- Paragangliomas are vascular tumors and demonstrate avid enhancement on both CT and MR. They also often exhibit a characteristic "salt and pepper" appearance on MR. (springeropen.com)
- Paragangliomas, also known as glomus tumors, arise from paraganglion cells which form the basis of the extra-adrenal neuroendocrine system. (springeropen.com)
- Additionally, familial paragangliomas are more commonly multicentric than sporadic tumors. (springeropen.com)
- Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors originating from chromaffin cells , holding significant clinical importance due to their capacity for excessive catecholamine secretion and associated cardiovascular complications . (bvsalud.org)
- Paragangliomas are on the other hand slow growing tumors and mostly benign, but also these are believed to be primed during development of the neural crest. (lu.se)
Tumor22
- Carotid paraganglioma (carotid body tumor): Is the most common of the head and neck paragangliomas. (wikipedia.org)
- A tumor involving the paraganglia is known as a paraganglioma. (medlineplus.gov)
- Paragangliomas and pheochromocytomas are typically considered an undetermined tumor type, meaning they can be noncancerous (benign) or become cancerous (malignant) and spread to other parts of the body (metastasize). (medlineplus.gov)
- Malignant bladder paragangliomas are usually treated with radical cystectomy and tumor removal. (medscape.com)
- however, large tumor size, an increased number of mitoses, and the presence of lymphovascular tumor invasion and succinate dehydrogenase (SDH) B mutations make malignant paraganglioma more likely. (medscape.com)
- Histologic features of the tumor are the same as in paraganglioma of other organs, including adrenal pheochromocytoma. (medscape.com)
- Objective: To report a case of a multiple paraganglioma with 5 concurrent locations and also describe a complication not found in the literature, spontaneous tumor bleeding. (scirp.org)
- Paraganglioma is a rare type of neuroendocrine tumor with the ability of neuropeptide and catecholamine secretion. (springermedizin.at)
- Paraganglioma of the larynx is a rare tumor that arises from paraganglion cells. (nepjol.info)
- I was just diagnosed with paraganglioma and carotid body tumor. (mayoclinic.org)
- The diagnosis of carotid body tumor, also known as a chemodectoma or paraganglioma, is typically made with radiological studies. (mayoclinic.org)
- Ask your doctor if he or she regularly treats people with this condition, as most doctors rarely (if ever) encounter paragangliomas and are unfamiliar with the best approaches to diagnosing and treating this rare tumor. (mayoclinic.org)
- We performed a retroperitoneal laparoscopic resection of all of the tumor, and pathology confirmed a paraganglioma. (sls.org)
- Is Paraganglioma A Neuroendocrine Tumor & Is There A Surgery For It? (epainassist.com)
- Most cases of paraganglioma are non-cancerous however untreated condition becomes malignant, grow, and spread to the distant parts of the body requiring surgery to remove the tumor. (epainassist.com)
- Is Paraganglioma A Neuroendocrine Tumor? (epainassist.com)
- A paraganglioma is an extra-adrenal rare tumor that develops from the parasympathetic nervous system forming ganglia. (epainassist.com)
- Immunohistochemistry aided in the diagnostic discrimination of paraganglioma from neuroendocrine carcinoma and in the assessment of tumor differentiation. (unipr.it)
- Immunohistochemically, the tumor was positive for chromogranin A, CD56, and synaptophysin, and a diagnosis of paraganglioma of the urinary bladder was confirmed. (biomedcentral.com)
- In 1974, Glenner and Grimley renamed the tumor paraganglioma on the basis of its anatomic and physiologic characteristics. (naqlafshk.com)
- Advanced pheochromocytoma/paraganglioma (PPGL) or pancreatic neuroendocrine tumor (pNET). (medscape.com)
- We focus on the childhood tumor form neuroblastoma and adult tumor form paraganglioma. (lu.se)
Mutations16
- Mutations of the genes for the succinate dehydrogenase, SDHD (previously known as PGL1), SDHA, SDHC (previously PGL3) and SDHB have been identified as causing familial head and neck paragangliomas. (wikipedia.org)
- Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. (medlineplus.gov)
- There is increasing evidence to support the use of temozolomide therapy for the treatment of metastatic phaeochromocytoma/paraganglioma (PPGL) in adults, particularly in patients with SDHx mutations. (nih.gov)
- Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. (springermedizin.at)
- Pheocromocytoma-Paraganglioma syndromes are associated with mutations in 3 different genes that encode subunits B, C, and D of the mitochondrial enzyme succinate dehydrogenase (SDH), which catalyzes the oxidation of succinate to fumarate in the Krebs cycle [1-2]. (snmjournals.org)
- Heterozygous germline inactivating mutations in SDHD , SDHC , and SDHB , which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase), cause hereditary paraganglioma types 1, 3, and 4 (PGL1, PGL3, and PGL4), respectively. (bmj.com)
- Mutations in the fourth subunit of mitochondrial complex II, SDHA , have yet to be demonstrated in hereditary paraganglioma. (bmj.com)
- Over 25 mutations in SDHD and 25 mutations in SDHB have been detected in hereditary paraganglioma, including those reviewed by Baysal 1 and the more recent additions of multiple mutations in SDHB 4- 6 and SDHD . (bmj.com)
- 3, 10 However, analyses of SDHC in four series of patients with paraganglioma or pheochromocytoma 6, 8, 11, 12 yielded no definitive SDHC mutations. (bmj.com)
- These findings indicate that the relative contribution of complex II subunit mutations to hereditary paraganglioma is not similar and may reflect currently unrecognised aspects of complex II biology. (bmj.com)
- Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. (uni-regensburg.de)
- Thus, mutations in complex II (succinate dehydrogenase (SDH)) lead to the formation of pheochromocytoma (PHEO)/paraganglioma (PGL). (crcm-marseille.fr)
- Paragangliomas and pheochromocytomas can be sporadic or familial, the latter frequently being multifocal and possibly due to succinate dehydrogenase complex genes mutations. (biomedcentral.com)
- In addition, 12% of sporadic paragangliomas are related to covered succinate dehydrogenase complex mutations. (biomedcentral.com)
- It is crucial to look for a second malignancy in the case of a paraganglioma demonstrating succinate dehydrogenase complex germline mutations. (biomedcentral.com)
- The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma. (bvsalud.org)
Paraganglia1
- Hereditary paraganglioma (PGL) is characterised by slow growing, vascular tumours that can develop in any component of the paraganglia, a neuro-ectodermal system that is distributed from the skull base to the pelvic floor. (bmj.com)
Neck14
- A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the head, neck, thorax and abdomen). (wikipedia.org)
- Vagal paraganglioma: These are the least common of the head and neck paragangliomas. (wikipedia.org)
- Other types of paraganglioma are usually found in the head, neck, or trunk. (medlineplus.gov)
- Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. (medlineplus.gov)
- People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. (medlineplus.gov)
- The most common sites for head and neck paragangliomas (HNPGLs) include the carotid body followed by middle ear and vagal glomus [ 4 ] . (encyclopedia.pub)
- Ultrasound of his neck, magnetic resonance imaging, and 1,4,7,10-tetraazacyclododecane-N(I),N(II),N(III),N(IIII)-tetraacetic acid(D)-Phe(1)-thy(3)-octreotide ( 68 Ga-DOTATOC) positron emission tomography-computed tomography and endocrine work-up were consistent with a carotid body paraganglioma with concomitant nodal enlargement in several body regions, which turned out to be a follicular lymphoma at histology. (biomedcentral.com)
- The goal of this article is to review the relevant anatomy related to head and neck paragangliomas, as well as their typical imaging characteristics on cross-sectional imaging including CT, MR, ultrasound, and nuclear medicine studies. (springeropen.com)
- The imaging evaluation of head and neck paragangliomas utilizes multiple cross-sectional imaging modalities including CT, MR, ultrasound, and various nuclear medicine techniques. (springeropen.com)
- Head and neck paragangliomas most common anatomic locations include the carotid space, jugular foramen, middle ear, and along the course of the vagus nerve. (springeropen.com)
- The imaging evaluation of head and neck paragangliomas utilizes multiple cross-sectional imaging modalities to evaluate for extent of disease and to help guide surgical management by evaluating for osseous and neurovascular involvement. (springeropen.com)
- By understanding these fundamental concepts, the radiologist will be able to accurately differentiate a generally benign paraganglioma from a potentially more aggressive head and neck neoplasm. (springeropen.com)
- The majority of head and neck paragangliomas are benign and only locally invasive, with only approximately 2-13% of paragangliomas demonstrating malignancy [ 1 ]. (springeropen.com)
- Paragangliomas of the head and neck are more common in females, with this predilection most common in jugular (3:1) and tympanic subtypes (6:1) [ 6 ]. (springeropen.com)
Succinate3
- Learning Objectives Succinate dehydrogenase deficiency (type B) is associated with Pheochromocytoma-Paraganglioma syndrome, which can result in wide metastatic extra-adrenal paragangliomas. (snmjournals.org)
- Succinate dehydrogenase deficiency contributes to the predisposition to metastatic paragangliomas. (snmjournals.org)
- The patient was identified with succinate dehydrogenase deficiency (type B), which is associated with Pheochromocytoma-Paraganglioma syndrome, Type 4, and can result in extra-adrenal paragangliomas which tend to metastasize widely. (snmjournals.org)
Gangliocytic paraganglioma1
- Gangliocytic paraganglioma is an uncommon benign neurogenic tumour of the digestive tract that is usually located in the descending duodenum. (tmu.edu.tw)
Benign3
- As paragangliomas grow very slowly and are normally benign, survival rate is very high. (knowcancer.com)
- Introduction: The paragangliomas are mostly benign and more frequent in women. (scirp.org)
- Malignancy is defined by the anatomic presence of metastasis, as there are no current histopathologic diagnostic criteria which can accurately define malignant paragangliomas from their benign counterparts [ 2 ]. (springeropen.com)
PPGL1
- OBJECTIVE: The aim was to formulate clinical practice guidelines for pheochromocytoma and paraganglioma (PPGL). (bvsalud.org)
Metastatic2
Familial3
- Sobol, S.M. and Dailey, J.C. (1990) Familial Multiple Cervical Paragangliomas: Report of a Kindred and Review of the Literature. (scirp.org)
- Hence, it is of utmost importance that role of SDHC in familial and sporadic paragangliomas be confirmed independently. (bmj.com)
- Together, they are variably prominent components of three syndromes: the familial paraganglioma and gastric GIST syndrome, neurofibromatosis type 1, and the Carney triad. (elsevierpure.com)
Extra-adrenal paragangliomas2
- Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. (medlineplus.gov)
- Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma. (medlineplus.gov)
Intra-medullary paraganglioma1
- in that case manifestations often resemble those of pheochromocytomas (intra-medullary paraganglioma). (wikipedia.org)
Abdominal paragangliomas2
- Serves as a common origin of abdominal paragangliomas. (wikipedia.org)
- abdominal paragangliomas at other sites are extremely uncommon. (springermedizin.at)
Parasympathetic1
- Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. (medlineplus.gov)
Cases of paraganglioma2
- Almost half of the cases of paraganglioma produces abnormal cells known as catecholamines, a hormone that performs the flight and fright function. (epainassist.com)
- Case Report: We report two cases of paraganglioma in gallbladder. (amjcaserep.com)
Diagnosis of paraganglioma2
- histology achieved a diagnosis of paraganglioma located in Calot's triangle. (springermedizin.at)
- Histopathology and immunohistochemistry allowed for the final diagnosis of paraganglioma. (unipr.it)
Pheochromocytomas and paragangliomas2
- The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. (uni-regensburg.de)
- Newly uncovered are 7 of 63 (11%) malignant pheochromocytomas and paragangliomas in SDHA and TMEM127 disease. (uni-regensburg.de)
Genes2
- 001). CONCLUSIONS AND RELEVANCE The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. (uni-regensburg.de)
- Paragangliomas are associated with multiple syndromes and genes and are commonly seen in patients with von Hippel-Lindau (VHL), neurofibromatosis type I (NF I), and multiple endocrine neoplasia type II (MEN II) [ 7 , 8 ]. (springeropen.com)
Neoplasm2
- Urinary bladder paraganglioma is a rare neoplasm that originates from the paraganglion cells of the urinary bladder and is the same as paraganglioma at other anatomic sites. (medscape.com)
- A paraganglioma is a rare neuroendocrine neoplasm that occurs near certain blood vessels or nerves outside the adrenal glands. (epainassist.com)
Resection4
- Köhler, H.F., Carvalho, A.L., Nishinari, K. and Kowalski, L.P. (2010) Internal Carotid Artery Reconstruction after Paraganglioma Resection: Report of Six Cases and Analysis of Available Techniques. (scirp.org)
- Surgical resection and Pathological report reveled paraganglioma. (snmjournals.org)
- We present the case of a man with recurrent paraganglioma treated with laparoscopic resection. (sls.org)
- Our case study is among only a few in which laparoscopic resection of a retroperitoneal paraganglioma has been reported. (sls.org)
Positron Emission T1
- Thus, imaging of paragangliomas by using modern imaging modalities like exendin positron emission tomography/computed tomography (PET/CT) is a significant breakthrough for paraganglioma patients because of its high sensitivity and specificity. (bhimar.org)
Catecholamines2
- Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. (medlineplus.gov)
- Because the paraganglioma secretes catecholamines, patients may have symptoms of headache, sweating, tremulousness, anxiety, and micturition syncope (the temporary loss of consciousness upon urinating). (medscape.com)
Urinary bladder6
- Rarely, paraganglioma of the urinary bladder is associated with neurofibromatosis and urothelial carcinoma . (medscape.com)
- Paraganglioma of the urinary bladder may mimic high-grade urothelial carcinoma with a nest pattern. (medscape.com)
- thus, paraganglioma can be found in any part of the urinary bladder. (medscape.com)
- Paraganglioma of the urinary bladder, as in other organs, usually does not react to epithelium-specific antibodies. (medscape.com)
- Paraganglioma of the urinary bladder (Pub) is rare and presents with clinical symptoms caused by catecholamine production and release. (biomedcentral.com)
- Although most of these lesions are of retroperitoneal origin, paragangliomas have been reported at a host of remote sites, including the urinary bladder, larynx, orbit and lung. (amjcaserep.com)
Immunohistochemistry1
- We hereby present a case of laryngeal paraganglioma in a 60-yearold female, who underwent total laryngectomy following a diagnostic micro-laryngeal biopsy, which was supported by immunohistochemistry. (nepjol.info)
Endocrine2
- Paragangliomas and pheochromocytomas can occur in individuals with other inherited disorders, such as von Hippel-Lindau syndrome , Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia . (medlineplus.gov)
- Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (springermedizin.at)
Tumours3
- The term 'jugulo-tympanic paraganglioma' is suggested as a more accurate name for these tumours. (mcmaster.ca)
- The following simple classification is recommended: Group I tumours (tympanic paragangliomas) are those with or without VIIth nerve palsy, but with no other cranial nerve involvement. (mcmaster.ca)
- Group II tumours (jugular paragangliomas) are those with involvement of any cranial nerve other than the VIIth. (mcmaster.ca)
Endoscopic1
- Endoscopic Management of Early Stage Middle Ear Paragangliomas - An Australian Case Series. (researchain.net)
SDHAF21
- DESIGN, SETTING, AND PATIENTS This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromocytoma-Paraganglioma Registry for prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016. (uni-regensburg.de)
Rarely1
- Paraganglioma of the kidney seldom occurs and is rarely malignant. (sls.org)
SDHx1
- Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma. (crcm-marseille.fr)
Anatomic3
- A paraganglioma of the heart that metastasizes to regional or distant anatomic sites. (nih.gov)
- This highlights the need for the introduction of molecular imaging with the conjunction of anatomic imaging (computed tomography (CT) or magnetic resonance imaging (MRI)) in the diagnostics of paragangliomas. (bhimar.org)
- In this article, we will review the expected anatomic locations of paragangliomas and their general imaging appearance on computed tomography (CT) and magnetic resonance (MR), as well as CT and MR angiography. (springeropen.com)
Rare3
- The report shows an extremely rare case of an extra-adrenal abdominal paraganglioma, successfully managed with a laparoscopic approach. (springermedizin.at)
- Background: Paragangliomas are rare extra-adrenal neoplasms of neural crest origin. (amjcaserep.com)
- The paraganglioma-jejunal GIST combination may be the harbinger of a rare genetic syndrome, a variant of the Carney triad or the paraganglioma-gastric stromal sarcoma syndrome, or be coincidental. (elsevierpure.com)
Hormones1
- During treatment, some patients may experience crisis due to the release of hormones from paraganglioma secretions. (knowcancer.com)
Hypertension1
- The patient presented with symptoms of palpitations, sweating, flushing and hypertension and was diagnosed with a paraganglioma. (nih.gov)
Syndrome1
- We report a patient with acute cauda equina syndrome caused by a hemorrhagic cauda equina paraganglioma. (scitechnol.com)