Materiały źródłowe

• #1 Pheochromocytoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367

  Researchers don’t know exactly what causes a pheochromocytoma. The tumor forms in cells called chromaffin cells. These cells are located in the center of an adrenal gland. They release certain hormones, mainly adrenaline and noradrenaline. These hormones help control many body functions, such as heart rate, blood pressure and blood sugar. […] Most pheochromocytomas are found in people between the ages of 20 and 50. But the tumor can form at any age. […] People who have certain rare genetic conditions have a higher risk of pheochromocytomas. The tumors usually are not cancer and haven’t spread in the body. This type of tumor is called benign or nonmetastatic pheochromocytoma. Rarely, the tumors are cancer and are spreading in the body. This type of tumor is called malignant or metastatic pheochromocytoma. Often, benign tumors related to these rare genetic conditions form in both adrenal glands. Genetic conditions linked with pheochromocytoma include: Multiple endocrine neoplasia, type 2 (MEN 2). This condition can cause tumors in more than one part of the body’s hormone-making system, called the endocrine system. There are two types of MEN 2, including type 2A and type 2B. Both can involve pheochromocytomas. Other tumors linked with this condition can appear in other parts of the body. These body parts include the thyroid, parathyroid glands, lips, mouth and digestive system. […] A person’s age and certain medical conditions can raise the risk of a pheochromocytoma.

• #2 Pheochromocytoma: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23373-pheochromocytoma

  A pheochromocytoma is a rare tumor that forms in the center of one or both of your adrenal glands (adrenal medulla). […] In most cases of pheochromocytoma, the exact cause is unknown, and it occurs randomly. […] Approximately 25% to 35% of people who have pheochromocytoma have a hereditary condition (passed through the family) that’s linked to pheochromocytoma, including: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B), Von Hippel-Lindau (VHL) disease, Neurofibromatosis type 1 (NF1), Hereditary paraganglioma syndrome, Carney-Stratakis dyad [paraganglioma and gastrointestinal stromal tumor (GIST)], Carney triad (paraganglioma, GIST and pulmonary chondroma). […] Pheochromocytomas may also be caused by mutations (changes) of one of at least 10 different genes.

• #3 Pheochromocytoma: What is a Pheochromocytoma? – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma

  Pheochromocytoma is a rare and potentially dangerous tumor that affects approximately 1 in 500,000 people. […] We now know that about half of patients with patients with pheochromocytoma possess a germline mutation (a mutation that can be passed on to ones children) that is the underlying cause of the tumor. […] Pheochromocytomas develop in specialized cells called chromaffin cells. Located in the center of the adrenal gland, chromaffin cells release adrenaline (epinephrine) and noradrenaline (norepinephrine) which control your bodys blood pressure and heart rate. Adrenaline and noradrenaline trigger your bodys response to a perceived threat, causing your blood pressure and heart rate to increase. A pheochromocytoma leads to an excessive amount of these hormones being released. […] Certain rare inherited disorders have an increased risk of pheochromocytoma. These genetic conditions include Multiple endocrine neoplasia, type 2 (MEN 2), Von Hippel-Lindau disease, Neurofibromatosis 1 (NF1), and Hereditary paraganglioma syndromes.

• #4 Pheochromocytoma Causes, Symptoms, and Treatments | UPMC

  https://www.upmc.com/services/endocrinology/conditions/pheochromocytoma

  Pheochromocytoma is a rare tumor that forms in the adrenal glands. […] Doctors don’t know what causes PCC. […] In some cases, it may run in families. […] Scientists are still learning about PCC causes, risk factors, and complications. But there isn’t evidence that environmental and lifestyle factors affect the disease. […] Some genetic conditions may raise your risk of getting PCC. […] These include: Carney triad, Carney-Stratakis dyad, Hereditary paraganglioma syndrome, Multiple endocrine neoplasia 2 syndrome, types A and B, Neurofibromatosis type 1, Von Hippel-Lindau syndrome. […] Having PCC can lead to serious health problems. […] Most PCCs aren’t cancerous. But the tumor can release hormones that cause extremely high blood pressure. […] If the tumor is malignant, the cancer can spread to other parts of your body.

• #5 Pheochromocytoma | Loma Linda University Health

  https://lluh.org/conditions/pheochromocytoma

  A pheochromocytoma is a rare type of tumor. It grows inside the middle part of an adrenal gland. […] Experts don’t know what causes this type of tumor. But there may be a genetic component. […] If someone in your family has this type of tumor, you may be at a higher risk of developing it. This tumor does not seem to be affected by environment, diet, or lifestyle. […] About 1 in 4 of these types of tumors are now believed to run in families. […] Experts don’t know what causes these tumors.

• #6 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #7 Pheochromocytoma > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/pheochromocytoma

  A pheochromocytoma is a rare tumor that starts in cells in the adrenal medulla, the central part of the adrenal glands. […] More than half of pheochromocytomas arise sporadically, meaning they are not linked to an inherited disorder; their cause is unknown. […] However, about 30% of pheochromocytomas are linked to inherited conditions or genetic mutations that predispose people to the disease. […] Certain genetic disorders, including multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1), and von Hippel-Lindau (VHL) disease, are also associated with increased risk for the condition.

• #8 Phaeochromocytoma

  https://dermnetnz.org/topics/phaeochromocytoma

  Phaeochromocytomas are rare. It is estimated that 28 cases are diagnosed per year in a population of one million people. The tumours have a higher prevalence in patients with hypertension (about 16 per thousand). […] 75% of phaeochromocytomas are sporadic. 25% are due to inherited genetic mutations. […] The associated hereditary syndromes and genetic mutations include the following: Von Hippel-Lindau, Neurofibromatosis Type 1, Multiple endocrine neoplasia type 2B, Succinate Dehydrogenase Protein Complex Genes Germline Mutations. […] 10% of gene mutations are associated with malignancy (cancer).

• #9 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Causes-and-Symptoms-of-Pheochromocytoma.aspx

  Pheochromocytomas are neural crest-derived tumors that produce catecholamines, such as epinephrine and norepinephrine, and arise mainly from the adrenal gland. […] A majority of pheochromocytomas are sporadic; nevertheless, in about 30 percent of patients this condition arises as part of a familial disorder. In such cases, the catecholamine-secreting tumors are usually presented as bilateral adrenal pheochromocytomas (or paragangliomas). […] When compared to sporadic neoplasms, hereditary pheochromocytomas typically present in younger individuals. Sporadic pheochromocytoma is thus usually diagnosed according to the symptoms or, sometimes, as an incidental finding on computed imaging, while syndromic pheochromocytoma is regularly diagnosed earlier in the course of disease by employing biochemical and/or genetic surveillance.

• #10 Pheochromocytoma FAQs: Treatment & Diagnosis – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma/pheochromocytoma-treatment-diagnosis

  Pheochromocytoma is a rare and potentially dangerous tumor that affects approximately 1 in 500,000 people. […] We now know that about half of patients with patients with pheochromocytoma possess a germline mutation (a mutation that can be passed on to ones children) that is the underlying cause of the tumor. […] Most pheochromocytomas are sporadic, meaning that they occur at random for no identifiable reason. […] Very recent research (2003 and beyond) has clearly demonstrated that many more pheochromocytomas are familial (inherited or syndromic) than previously thought. […] Experts now believe that somewhere between 20% and 35% of pheochromocytomas are familial hence the downfall of the 10% rule. […] Pheochromocytoma-associated mutations are passed on in an autosomal dominant fashion, meaning that all children of affected parents have a 50% chance of receiving the abnormal gene.

• #11 Clinical presentation and diagnosis of pheochromocytoma – UpToDate

  https://www.uptodate.com/contents/clinical-presentation-and-diagnosis-of-pheochromocytoma

  Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are referred to as „pheochromocytomas” and „catecholamine-secreting paragangliomas” („extra-adrenal pheochromocytomas”), respectively. […] Most catecholamine-secreting tumors are sporadic. However, approximately 40 percent of patients have the disease as part of a familial disorder; in these patients, the catecholamine-secreting tumors are more likely to be bilateral adrenal pheochromocytomas or paragangliomas. […] Hereditary catecholamine-secreting tumors typically present at a younger age than sporadic neoplasms.

• #12 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. […] Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. […] Over 95% of cases of MEN 2A are associated with mutations in the ret proto-oncogene affecting 1 of 5 codons, located in exon 10 (codons 609, 611, 618, 620) and exon 11 (codon 634). […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. […] The TMEM127 gene also is associated with susceptibility to pheochromocytoma. Several families have been described with unique mutations to this gene that have resulted in the development of pheochromocytoma between young adulthood and middle age.

• #13 Pheochromocytoma – Wikipedia

  https://en.wikipedia.org/wiki/Pheochromocytoma

  Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. […] Current estimates predict that upwards of 40% of all pheochromocytomas are related to an inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. […] Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a pheochromocytoma undergo an evaluation with a genetic counselor to consider genetic testing. […] The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. […] Determining the genetic status of a pheochromocytoma patient is crucial each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. […] There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with pheochromocytoma, but no current evidence of disease) should be evaluated.

• #14 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #15 What causes pheochromocytoma? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/pheochrom/conditioninfo/causes

  Pheochromocytoma can be a genetic condition inherited from a parent, or it can show up in someone with no family history of the condition. […] Approximately one third of pheochromocytoma cases occur when patients inherit a mutated gene from their parents. Studies have linked several genes to the disease, but researchers are not sure how these genes contribute to the formation of this tumor. […] The remaining two thirds of cases are spontaneous and are not associated with a family history. However, genetic inheritance may play a role in the development of the disease through unknown genes. For example, in one study, a significant percentage of patients (7.5%27%) with sporadic pheochromocytoma had genetic mutations that have been linked to other family-inherited syndromes.

• #16 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/124059-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. Pheochromocytomas occur bilaterally in the MEN syndromes in as many as 70% of cases. […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. Loss of MAX function is correlated with metastatic potential. Burnichon et al concluded that germline mutations in MAX are responsible for approximately 1% of pheochromocytomas and paragangliomas in patients without evidence of other known mutations.

• #17 Clinical presentation and diagnosis of pheochromocytoma – UpToDate

  https://www.uptodate.com/contents/clinical-presentation-and-diagnosis-of-pheochromocytoma

  Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are referred to as „pheochromocytomas” and „catecholamine-secreting paragangliomas” („extra-adrenal pheochromocytomas”), respectively. […] Most catecholamine-secreting tumors are sporadic. However, approximately 40 percent of patients have the disease as part of a familial disorder; in these patients, the catecholamine-secreting tumors are more likely to be bilateral adrenal pheochromocytomas or paragangliomas. […] Hereditary catecholamine-secreting tumors typically present at a younger age than sporadic neoplasms.

• #18 Phaeochromocytoma | Adrenal gland cancer | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/adrenal-gland-cancer/phaeochromocytoma/about

  Phaeochromocytoma can be part of a family cancer syndrome. This means an inherited gene change causes a number of cancers to develop within a family. […] As with many types of cancer, it is not known what causes phaeochromocytoma. But doctors know that having a family history of phaeochromocytoma increases your risk of developing it. This means there is a change in a gene (mutation) that can be passed on within a family. Doctors think about 35 in 100 cases of phaeochromocytoma (about 35%) are linked to an inherited gene change. […] Phaeochromocytomas diagnosed in children and young adults are more likely to be linked to an inherited gene change.

• #19 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/124059-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. Pheochromocytomas occur bilaterally in the MEN syndromes in as many as 70% of cases. […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. Loss of MAX function is correlated with metastatic potential. Burnichon et al concluded that germline mutations in MAX are responsible for approximately 1% of pheochromocytomas and paragangliomas in patients without evidence of other known mutations.

• #20 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. […] Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. […] Over 95% of cases of MEN 2A are associated with mutations in the ret proto-oncogene affecting 1 of 5 codons, located in exon 10 (codons 609, 611, 618, 620) and exon 11 (codon 634). […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. […] The TMEM127 gene also is associated with susceptibility to pheochromocytoma. Several families have been described with unique mutations to this gene that have resulted in the development of pheochromocytoma between young adulthood and middle age.

• #21 Pheochromocytoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367

  Researchers don’t know exactly what causes a pheochromocytoma. The tumor forms in cells called chromaffin cells. These cells are located in the center of an adrenal gland. They release certain hormones, mainly adrenaline and noradrenaline. These hormones help control many body functions, such as heart rate, blood pressure and blood sugar. […] Most pheochromocytomas are found in people between the ages of 20 and 50. But the tumor can form at any age. […] People who have certain rare genetic conditions have a higher risk of pheochromocytomas. The tumors usually are not cancer and haven’t spread in the body. This type of tumor is called benign or nonmetastatic pheochromocytoma. Rarely, the tumors are cancer and are spreading in the body. This type of tumor is called malignant or metastatic pheochromocytoma. Often, benign tumors related to these rare genetic conditions form in both adrenal glands. Genetic conditions linked with pheochromocytoma include: Multiple endocrine neoplasia, type 2 (MEN 2). This condition can cause tumors in more than one part of the body’s hormone-making system, called the endocrine system. There are two types of MEN 2, including type 2A and type 2B. Both can involve pheochromocytomas. Other tumors linked with this condition can appear in other parts of the body. These body parts include the thyroid, parathyroid glands, lips, mouth and digestive system. […] A person’s age and certain medical conditions can raise the risk of a pheochromocytoma.

• #22 Pheochromocytoma: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23373-pheochromocytoma

  A pheochromocytoma is a rare tumor that forms in the center of one or both of your adrenal glands (adrenal medulla). […] In most cases of pheochromocytoma, the exact cause is unknown, and it occurs randomly. […] Approximately 25% to 35% of people who have pheochromocytoma have a hereditary condition (passed through the family) that’s linked to pheochromocytoma, including: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B), Von Hippel-Lindau (VHL) disease, Neurofibromatosis type 1 (NF1), Hereditary paraganglioma syndrome, Carney-Stratakis dyad [paraganglioma and gastrointestinal stromal tumor (GIST)], Carney triad (paraganglioma, GIST and pulmonary chondroma). […] Pheochromocytomas may also be caused by mutations (changes) of one of at least 10 different genes.

• #23 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/124059-overview

  VHL disease is caused by mutations in the VHL gene. This gene encodes a protein that plays a role in cilia formation, regulation of cellular senescence, and the oxygen-sensing pathway. […] Neurofibromatosis, or von Recklinghausen disease, is characterized by congenital anomalies (often benign tumors) of the skin, nervous system, bones, and endocrine glands. Only 1% of patients with neurofibromatosis have been found to have pheochromocytomas, but as many as 5% of patients with pheochromocytomas have been found to have neurofibromatosis. […] The succinate dehydrogenase complex subunit D protein is encoded by the SDHD gene, mutations in which cause pheochromocytomas, paragangliomas, and other tumors. In most tumors, inheritance of the mutation is autosomal dominant with biallelic expression of the SDHD gene. However, paternal imprinting appears to be the inheritance pattern in paragangliomas and, in particular, carotid body tumors resulting from the SDHD gene. […] Although its genetics remain incompletely understood, hemihyperplasia (also called hemihypertrophy) is known to increase tumor risk. The condition may be an isolated finding or a part of a larger syndrome such as Beckwith-Wiedemann syndrome, Proteus syndrome, or neurofibromatosis.

• #24 Phaeochromocytoma (Investigations and Treatment)

  https://patient.info/doctor/phaeochromocytoma-pro

  Phaeochromocytomas occur in certain familial syndromes, including: Multiple endocrine neoplasia 2 (MEN2) which is associated with RET mutations, von Hippel-Lindau syndrome (VHL), which is due to VHL gene mutations, Neurofibromatosis type 1 (NF1) which is due to NF1 gene mutations. […] It was thought that 10% of cases represent inherited syndromes but this figure may be up to 30%. […] VHL disease is associated with phaeochromocytomas, cerebellar haemangioblastomas and renal cell carcinoma.

• #25 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/124059-overview

  VHL disease is caused by mutations in the VHL gene. This gene encodes a protein that plays a role in cilia formation, regulation of cellular senescence, and the oxygen-sensing pathway. […] Neurofibromatosis, or von Recklinghausen disease, is characterized by congenital anomalies (often benign tumors) of the skin, nervous system, bones, and endocrine glands. Only 1% of patients with neurofibromatosis have been found to have pheochromocytomas, but as many as 5% of patients with pheochromocytomas have been found to have neurofibromatosis. […] The succinate dehydrogenase complex subunit D protein is encoded by the SDHD gene, mutations in which cause pheochromocytomas, paragangliomas, and other tumors. In most tumors, inheritance of the mutation is autosomal dominant with biallelic expression of the SDHD gene. However, paternal imprinting appears to be the inheritance pattern in paragangliomas and, in particular, carotid body tumors resulting from the SDHD gene. […] Although its genetics remain incompletely understood, hemihyperplasia (also called hemihypertrophy) is known to increase tumor risk. The condition may be an isolated finding or a part of a larger syndrome such as Beckwith-Wiedemann syndrome, Proteus syndrome, or neurofibromatosis.

• #26 Phaeochromocytoma

  https://www.nhs.uk/conditions/phaeochromocytoma/

  Many phaeochromocytomas occur for no obvious reason and do not run in the family. […] However, up to 1 in every 3 occurs as part of an inherited genetic disorder, such as: von Hippel-Lindau (VHL) syndrome, neurofibromatosis type 1 (NF1). […] These genetic disorders cause different tumours or growths to develop around the body.

• #27 Hereditary paraganglioma-pheochromocytoma: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma/

  Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of tumors in structures called paraganglia. […] Researchers have identified several types of hereditary paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause. […] Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4. […] Mutations in the SDHB, SDHC, SDHD, and SDHAF2 genes lead to the loss or reduction of SDH enzyme activity. […] Because the mutated SDH enzyme cannot convert succinate to fumarate, succinate accumulates in the cell. As a result, the hypoxia pathways are triggered in normal oxygen conditions, which lead to abnormal cell growth and tumor formation.

• #28 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal medulla and the sympathetic or parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. Approximately half of these are attributable to variants in one of the succinate dehydrogenase (SDHx) genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] Constitutional variants of specific genes are principally associated with PPGL predisposition. […] Other genes in which variants are associated with PPGL susceptibility include: MAX, which encodes a leucine zipper type transcription factor and a member of the MYC/MAX/MXD proteins network; and TMEM27, which encodes a negative regulator of the mTOR pathway.

• #29 Pheochromocytoma FAQs: Treatment & Diagnosis – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma/pheochromocytoma-treatment-diagnosis

  Inherited syndromes that have been linked to pheochromocytoma include: Multiple Endocrine Neoplasia type 2 (MEN-2, both type -2A and -2B), Neurofibromatosis 1 (NF-1), Von Hippel-Lindau Disease (VHL), Familial pheochromocytoma/paraganglioma syndrome (SDHB, SDHD). […] Inherited pheochromocytoma patients are much more likely to develop multiple tumors and tumors lying outside of the adrenal gland. […] The likelihood of malignant pheochromocytoma appears to depend heavily on the underlying mutation. […] For most sporadic pheochromocytomas, less than 10% turn out to be malignant. […] The highest rate of malignancy is associated with the SDHB mutation (familial pheochromocytoma/paraganglioma syndrome) which may carry malignancy rates above 50%.

• #30 Pheochromocytoma: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23373-pheochromocytoma

  A pheochromocytoma is a rare tumor that forms in the center of one or both of your adrenal glands (adrenal medulla). […] In most cases of pheochromocytoma, the exact cause is unknown, and it occurs randomly. […] Approximately 25% to 35% of people who have pheochromocytoma have a hereditary condition (passed through the family) that’s linked to pheochromocytoma, including: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B), Von Hippel-Lindau (VHL) disease, Neurofibromatosis type 1 (NF1), Hereditary paraganglioma syndrome, Carney-Stratakis dyad [paraganglioma and gastrointestinal stromal tumor (GIST)], Carney triad (paraganglioma, GIST and pulmonary chondroma). […] Pheochromocytomas may also be caused by mutations (changes) of one of at least 10 different genes.

• #31 Pheochromocytoma – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/pheochromocytoma

  Pheochromocytoma is a type of neuroendocrine tumor that grows from cells called chromaffin cells. […] About 25-35% of cases of pheochromocytoma may be inherited. Some of these inherited cases may be associated with a genetic condition, such as Multiple Endocrine Neoplasia Types 2a and 2b, Von Hippel-Lindau Syndrome, and Neurofibromatosis. […] Scientists have found mutations in approximately 20 different genes that they think may lead to pheochromocytoma and paraganglioma. Mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, MDH2, IDH1, PHD1/PHD2, HIF2A/EPAS1/2, TMEM127, MAX, HRAS, MAML3 and CSDE1 may play a role in forming pheochromocytoma and paragangliomas. In many cases, it is not known what causes pheochromocytoma to form. […] If you have pheochromocytoma, you may have other genetic conditions that increased your chance of getting pheochromocytoma. These genetic conditions include: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B) Von Hippel-Lindau (VHL) syndrome Neurofibromatosis type 1 (NF1) Hereditary paraganglioma syndrome Carney-Stratakis dyad (paraganglioma and gastrointestinal stromal tumor [GIST]) Carney triad (paraganglioma, GIST, and pulmonary chondroma)

• #32 Pheochromocytoma: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23373-pheochromocytoma

  A pheochromocytoma is a rare tumor that forms in the center of one or both of your adrenal glands (adrenal medulla). […] In most cases of pheochromocytoma, the exact cause is unknown, and it occurs randomly. […] Approximately 25% to 35% of people who have pheochromocytoma have a hereditary condition (passed through the family) that’s linked to pheochromocytoma, including: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B), Von Hippel-Lindau (VHL) disease, Neurofibromatosis type 1 (NF1), Hereditary paraganglioma syndrome, Carney-Stratakis dyad [paraganglioma and gastrointestinal stromal tumor (GIST)], Carney triad (paraganglioma, GIST and pulmonary chondroma). […] Pheochromocytomas may also be caused by mutations (changes) of one of at least 10 different genes.

• #33 Pheochromocytoma – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/pheochromocytoma

  Pheochromocytoma is a type of neuroendocrine tumor that grows from cells called chromaffin cells. […] About 25-35% of cases of pheochromocytoma may be inherited. Some of these inherited cases may be associated with a genetic condition, such as Multiple Endocrine Neoplasia Types 2a and 2b, Von Hippel-Lindau Syndrome, and Neurofibromatosis. […] Scientists have found mutations in approximately 20 different genes that they think may lead to pheochromocytoma and paraganglioma. Mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, MDH2, IDH1, PHD1/PHD2, HIF2A/EPAS1/2, TMEM127, MAX, HRAS, MAML3 and CSDE1 may play a role in forming pheochromocytoma and paragangliomas. In many cases, it is not known what causes pheochromocytoma to form. […] If you have pheochromocytoma, you may have other genetic conditions that increased your chance of getting pheochromocytoma. These genetic conditions include: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B) Von Hippel-Lindau (VHL) syndrome Neurofibromatosis type 1 (NF1) Hereditary paraganglioma syndrome Carney-Stratakis dyad (paraganglioma and gastrointestinal stromal tumor [GIST]) Carney triad (paraganglioma, GIST, and pulmonary chondroma)

• #34 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  The majority of variants accounting for hereditary PPGL occur in SDHB and SDHD. […] PPGL can also occur as a feature of other broader cancer predisposition syndromes: Von Hippel Lindau (VHL) disease is an autosomal dominant tumour predisposition condition in which approximately 25% of patients develop PPGL, predominantly those with missense mutations in the VHL gene. […] Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by loss of function variants in the NF1 gene, predominantly characterised by a predisposition to neurofibroma. […] Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition called by gain of function mutations in the RET proto-oncogene. […] Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition caused by constitutional FH variants, associated with kidney cancer predisposition and cutaneous/uterine leiomyoma.

• #35 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/124059-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. Pheochromocytomas occur bilaterally in the MEN syndromes in as many as 70% of cases. […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. Loss of MAX function is correlated with metastatic potential. Burnichon et al concluded that germline mutations in MAX are responsible for approximately 1% of pheochromocytomas and paragangliomas in patients without evidence of other known mutations.

• #36 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. […] Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. […] Over 95% of cases of MEN 2A are associated with mutations in the ret proto-oncogene affecting 1 of 5 codons, located in exon 10 (codons 609, 611, 618, 620) and exon 11 (codon 634). […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. […] The TMEM127 gene also is associated with susceptibility to pheochromocytoma. Several families have been described with unique mutations to this gene that have resulted in the development of pheochromocytoma between young adulthood and middle age.

• #37 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. […] Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others. […] The MEN 2A and 2B syndromes have been traced to germline mutations in the ret proto-oncogene on chromosome 10, which encodes a tyrosine kinase receptor involved in the regulation of cell growth and differentiation. […] Over 95% of cases of MEN 2A are associated with mutations in the ret proto-oncogene affecting 1 of 5 codons, located in exon 10 (codons 609, 611, 618, 620) and exon 11 (codon 634). […] Novel mutations that cause hereditary pheochromocytoma have been identified in the MYC-associated factor X (MAX) gene. […] The TMEM127 gene also is associated with susceptibility to pheochromocytoma. Several families have been described with unique mutations to this gene that have resulted in the development of pheochromocytoma between young adulthood and middle age.

• #38 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal medulla and the sympathetic or parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. Approximately half of these are attributable to variants in one of the succinate dehydrogenase (SDHx) genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] Constitutional variants of specific genes are principally associated with PPGL predisposition. […] Other genes in which variants are associated with PPGL susceptibility include: MAX, which encodes a leucine zipper type transcription factor and a member of the MYC/MAX/MXD proteins network; and TMEM27, which encodes a negative regulator of the mTOR pathway.

• #39 Pheochromocytoma causes – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_causes

  The most common cause of pheochromocytoma is sporadic mutations. Less common causes of pheochromocytoma include familial associations and association with syndromes. Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes. […] In most cases of pheochromocytoma, the cause is unknown. Sporadic form is more common. […] Less common causes of pheochromocytoma include: Familial form, Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B. […] Pheochromocytoma of the familial type may be caused by a mutation in the following genes: RET gene (MEN 2A, MEN 2B syndromes), NF1 gene, VHL gene (VHL disease), SDHD, SDHB, and SDHC genes of the mitochondrial complex, SDHA, SDHAF2, TMEM127 (transmembrane protein 127), MAX (myc-associated factor X), FH (fumarate hydratase), PDH1, PDH2 (pyruvate dehydrogenase), HIF1alpha (hypoxia-inducible factor), MDH2 (malate dehydrogenase), and KIF1B (kinesin family member) genes.

• #40 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  The majority of variants accounting for hereditary PPGL occur in SDHB and SDHD. […] PPGL can also occur as a feature of other broader cancer predisposition syndromes: Von Hippel Lindau (VHL) disease is an autosomal dominant tumour predisposition condition in which approximately 25% of patients develop PPGL, predominantly those with missense mutations in the VHL gene. […] Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by loss of function variants in the NF1 gene, predominantly characterised by a predisposition to neurofibroma. […] Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition called by gain of function mutations in the RET proto-oncogene. […] Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition caused by constitutional FH variants, associated with kidney cancer predisposition and cutaneous/uterine leiomyoma.

• #41 Pheochromocytoma – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/pheochromocytoma

  Pheochromocytoma is a type of neuroendocrine tumor that grows from cells called chromaffin cells. […] About 25-35% of cases of pheochromocytoma may be inherited. Some of these inherited cases may be associated with a genetic condition, such as Multiple Endocrine Neoplasia Types 2a and 2b, Von Hippel-Lindau Syndrome, and Neurofibromatosis. […] Scientists have found mutations in approximately 20 different genes that they think may lead to pheochromocytoma and paraganglioma. Mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, MDH2, IDH1, PHD1/PHD2, HIF2A/EPAS1/2, TMEM127, MAX, HRAS, MAML3 and CSDE1 may play a role in forming pheochromocytoma and paragangliomas. In many cases, it is not known what causes pheochromocytoma to form. […] If you have pheochromocytoma, you may have other genetic conditions that increased your chance of getting pheochromocytoma. These genetic conditions include: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B) Von Hippel-Lindau (VHL) syndrome Neurofibromatosis type 1 (NF1) Hereditary paraganglioma syndrome Carney-Stratakis dyad (paraganglioma and gastrointestinal stromal tumor [GIST]) Carney triad (paraganglioma, GIST, and pulmonary chondroma)

• #42 Pheochromocytoma causes – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_causes

  The most common cause of pheochromocytoma is sporadic mutations. Less common causes of pheochromocytoma include familial associations and association with syndromes. Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes. […] In most cases of pheochromocytoma, the cause is unknown. Sporadic form is more common. […] Less common causes of pheochromocytoma include: Familial form, Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B. […] Pheochromocytoma of the familial type may be caused by a mutation in the following genes: RET gene (MEN 2A, MEN 2B syndromes), NF1 gene, VHL gene (VHL disease), SDHD, SDHB, and SDHC genes of the mitochondrial complex, SDHA, SDHAF2, TMEM127 (transmembrane protein 127), MAX (myc-associated factor X), FH (fumarate hydratase), PDH1, PDH2 (pyruvate dehydrogenase), HIF1alpha (hypoxia-inducible factor), MDH2 (malate dehydrogenase), and KIF1B (kinesin family member) genes.

• #43 Pheochromocytoma – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/pheochromocytoma

  Pheochromocytoma is a type of neuroendocrine tumor that grows from cells called chromaffin cells. […] About 25-35% of cases of pheochromocytoma may be inherited. Some of these inherited cases may be associated with a genetic condition, such as Multiple Endocrine Neoplasia Types 2a and 2b, Von Hippel-Lindau Syndrome, and Neurofibromatosis. […] Scientists have found mutations in approximately 20 different genes that they think may lead to pheochromocytoma and paraganglioma. Mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, MDH2, IDH1, PHD1/PHD2, HIF2A/EPAS1/2, TMEM127, MAX, HRAS, MAML3 and CSDE1 may play a role in forming pheochromocytoma and paragangliomas. In many cases, it is not known what causes pheochromocytoma to form. […] If you have pheochromocytoma, you may have other genetic conditions that increased your chance of getting pheochromocytoma. These genetic conditions include: Multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B) Von Hippel-Lindau (VHL) syndrome Neurofibromatosis type 1 (NF1) Hereditary paraganglioma syndrome Carney-Stratakis dyad (paraganglioma and gastrointestinal stromal tumor [GIST]) Carney triad (paraganglioma, GIST, and pulmonary chondroma)

• #44 Pheochromocytoma causes – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_causes

  The most common cause of pheochromocytoma is sporadic mutations. Less common causes of pheochromocytoma include familial associations and association with syndromes. Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes. […] In most cases of pheochromocytoma, the cause is unknown. Sporadic form is more common. […] Less common causes of pheochromocytoma include: Familial form, Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B. […] Pheochromocytoma of the familial type may be caused by a mutation in the following genes: RET gene (MEN 2A, MEN 2B syndromes), NF1 gene, VHL gene (VHL disease), SDHD, SDHB, and SDHC genes of the mitochondrial complex, SDHA, SDHAF2, TMEM127 (transmembrane protein 127), MAX (myc-associated factor X), FH (fumarate hydratase), PDH1, PDH2 (pyruvate dehydrogenase), HIF1alpha (hypoxia-inducible factor), MDH2 (malate dehydrogenase), and KIF1B (kinesin family member) genes.

• #45 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #46 Pheochromocytoma Causes, Symptoms, and Treatments | UPMC

  https://www.upmc.com/services/endocrinology/conditions/pheochromocytoma

  Pheochromocytoma is a rare tumor that forms in the adrenal glands. […] Doctors don’t know what causes PCC. […] In some cases, it may run in families. […] Scientists are still learning about PCC causes, risk factors, and complications. But there isn’t evidence that environmental and lifestyle factors affect the disease. […] Some genetic conditions may raise your risk of getting PCC. […] These include: Carney triad, Carney-Stratakis dyad, Hereditary paraganglioma syndrome, Multiple endocrine neoplasia 2 syndrome, types A and B, Neurofibromatosis type 1, Von Hippel-Lindau syndrome. […] Having PCC can lead to serious health problems. […] Most PCCs aren’t cancerous. But the tumor can release hormones that cause extremely high blood pressure. […] If the tumor is malignant, the cancer can spread to other parts of your body.

• #47 Pheochromocytoma: Symptoms, Causes, Diagnosis, and Treatment

  https://www.webmd.com/cancer/what_is_pheochromocytoma

  Doctors dont know why most PCC tumors form. About 30% of cases seem to run in families. These are more likely to be cancerous than ones that appear at random. […] The tumors are more common in people who have disorders or conditions that are passed down from parents to children, including: Multiple endocrine neoplasia, type 2, Von Hippel-Lindau disease, Neurofibromatosis 1 (NF1), Hereditary paraganglioma syndrome.

• #48 Pheochromocytoma: Risk Factors, Causes and Symptoms

  https://www.healthline.com/health/pheochromocytoma

  Pheochromocytoma (PCC) is a rare tumor that can form in cells in the middle of the adrenal glands. The tumor can cause the adrenal glands to make too much of the hormones norepinephrine (noradrenaline) and epinephrine (adrenaline). […] A PCC can develop at any age, but is most common in early to middle adulthood. Its believed that the condition is often genetically inherited. […] People who inherit PCC from their parents may also develop associated genetic conditions. These conditions include: Von Hippel-Lindau disease, a condition where cysts and tumors grow in the central nervous system, kidneys, adrenal glands, or other areas of the body, most are non-cancerous; Neurofibromatosis type 1, the development of tumors on the skin and optic nerves; Multiple endocrine neoplasia type 2 (MEN2), a form of thyroid cancer that develops in conjunction with PCC.

• #49 Phaeochromocytoma | Adrenal gland cancer | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/adrenal-gland-cancer/phaeochromocytoma/about

  Phaeochromocytoma can be part of a family cancer syndrome. This means an inherited gene change causes a number of cancers to develop within a family. […] As with many types of cancer, it is not known what causes phaeochromocytoma. But doctors know that having a family history of phaeochromocytoma increases your risk of developing it. This means there is a change in a gene (mutation) that can be passed on within a family. Doctors think about 35 in 100 cases of phaeochromocytoma (about 35%) are linked to an inherited gene change. […] Phaeochromocytomas diagnosed in children and young adults are more likely to be linked to an inherited gene change.

• #50 Pheochromocytoma Symptoms, Treatment, Diagnosis & Prognosis

  https://www.medicinenet.com/pheochromocytoma/article.htm

  Pheochromocytomas are a type of tumor of the adrenal glands that can release high levels of epinephrine and norepinephrine. […] Anything that can cause overactivity of the sympathetic nervous system can be on the list of diagnoses to rule out when suspecting a pheochromocytoma. […] Pheochromocytomas can be a component of certain familial or genetic syndromes. The most common familial condition is called multiple endocrine neoplasias, or MEN for short. Two types of MEN — MEN 2A and 2B — are associated with pheochromocytomas. […] Many individuals have pheochromocytomas with no known family history of them. These cases are termed sporadic. In general, if these patients have bilateral disease (pheochromocytomas in both adrenal glands) or are diagnosed before the age of 21, genetic screening is recommended.

• #51 Pheochromocytoma Causes, Symptoms, and Treatments | UPMC

  https://www.upmc.com/services/endocrinology/conditions/pheochromocytoma

  Pheochromocytoma is a rare tumor that forms in the adrenal glands. […] Doctors don’t know what causes PCC. […] In some cases, it may run in families. […] Scientists are still learning about PCC causes, risk factors, and complications. But there isn’t evidence that environmental and lifestyle factors affect the disease. […] Some genetic conditions may raise your risk of getting PCC. […] These include: Carney triad, Carney-Stratakis dyad, Hereditary paraganglioma syndrome, Multiple endocrine neoplasia 2 syndrome, types A and B, Neurofibromatosis type 1, Von Hippel-Lindau syndrome. […] Having PCC can lead to serious health problems. […] Most PCCs aren’t cancerous. But the tumor can release hormones that cause extremely high blood pressure. […] If the tumor is malignant, the cancer can spread to other parts of your body.

• #52 Pheochromocytoma: Symptoms, Treatment, and More

  https://www.verywellhealth.com/pheochromocytoma-overview-and-more-5196422

  Pheochromocytomas occur sporadically, with up to 40% now thought to be related to germline (hereditary) mutations (mutations that are present in genes at birth). […] Hereditary pheochromocytomas tend to occur in people younger than age 30 and are more likely to be bilateral (occurring in both adrenal glands). […] Among tumors that are not associated with a genetic syndrome, no known environmental or lifestyle risk factors have been identified, and the disease does not seem to vary based on dietary practices. […] Gene mutations may account for up to 40% of pheochromocytomas. Otherwise, no environmental, lifestyle, or dietary risk factors have been identified.

• #53 Pheochromocytoma: What is a Pheochromocytoma? – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma

  Pheochromocytoma is a rare and potentially dangerous tumor that affects approximately 1 in 500,000 people. […] We now know that about half of patients with patients with pheochromocytoma possess a germline mutation (a mutation that can be passed on to ones children) that is the underlying cause of the tumor. […] Pheochromocytomas develop in specialized cells called chromaffin cells. Located in the center of the adrenal gland, chromaffin cells release adrenaline (epinephrine) and noradrenaline (norepinephrine) which control your bodys blood pressure and heart rate. Adrenaline and noradrenaline trigger your bodys response to a perceived threat, causing your blood pressure and heart rate to increase. A pheochromocytoma leads to an excessive amount of these hormones being released. […] Certain rare inherited disorders have an increased risk of pheochromocytoma. These genetic conditions include Multiple endocrine neoplasia, type 2 (MEN 2), Von Hippel-Lindau disease, Neurofibromatosis 1 (NF1), and Hereditary paraganglioma syndromes.

• #54 Dysfunction of exocytosis causes catecholamine hypersecretion in patient with pheochromocytoma | bioRxiv

  https://www.biorxiv.org/content/10.1101/2021.11.02.466874v1.full-text

  Pheochromocytoma (Pheo) is a neuroendocrine tumor that develops from chromaffin cells of the adrenal medulla, and is responsible of an excess of catecholamines secretion leading to severe clinical symptoms such as hypertension, elevated stroke risk and various cardiovascular complications. […] The reason for this excess of secretion is currently not known. Among the likely possibilities are an anarchic proliferation of secretory cells or an intensification of the secretory capacity at the single cell level. […] Altogether, our findings indicate that dysfunction of the calcium-regulated exocytosis at the level of individual Pheo cell is a cause of the tumor-associated hypersecretion of catecholamines. […] Our amperometric analysis has allowed us to identify the later possibility as a likely cause of this phenomenon.

• #55 Dysfunction of exocytosis causes catecholamine hypersecretion in patient with pheochromocytoma | bioRxiv

  https://www.biorxiv.org/content/10.1101/2021.11.02.466874v1.full-text

  Altogether, our data clearly demonstrated that the regulation of calcium-regulated exocytosis is highly perturbed in tumor cells. […] To conclude, we have reported here that calcium-regulated exocytosis is deregulated in human Pheo cells and we have described tumor-associated expression changes of various key players of the exocytic pathway.

• #56 Pheochromocytoma-related Headache and Symptoms that Should Not be Overlooked: A Case Report

  https://www.j-nn.org/journal/view.php?number=177

  Pheochromocytoma is a rare tumor that originates from catecholamine-secreting chromaffin cells derived from the ectodermic neural system and is mostly situated in the adrenal medulla. The annual incidence of pheochromocytoma is approximately 0.8 per 100,000 person-years. A triad of symptoms of paroxysmal headache, excessive sweating, and heart palpitations should raise suspicion of pheochromocytoma, especially when concurrent hypertension exists; however, less than 25% of patients with pheochromocytoma present all three. […] Complications of pheochromocytoma from catecholamine secretion include congestive heart failure, pulmonary edema, myocardial infarction, ventricular fibrillation, cerebrovascular accidents, and catecholamine cardiomyopathy. […] Because of this, even if all neurological disease is excluded by brain work-up, other causes that can cause severe headaches should not be overlooked.

• #57 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #58 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #59 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #60 Pheochromocytoma Crisis | IntechOpen

  https://www.intechopen.com/chapters/55596

  Pheochromocytomas are rare tumours of the adrenal gland that secrete catecholamines. […] Pheochromocytomas arise from the chromaffin cells of the adrenal medulla. […] Pheochromocytomas can cause sustained hypertension if there is continuous secretion of catecholamines, but can also cause paroxysmal hypertension with associated symptoms. […] PMC can occur spontaneously, if there is necrosis or haemorrhage of the tumour itself or if there is any source of external pressure on the tumour. […] Many medications have been associated with PMC, including blockers, glucocorticoids, metoclopramide, various anaesthetic agents, tricyclic antidepressants, MAO inhibitors, opiates, methyldopa, nicotine, cocaine and certain radio contrast media. […] Special considerations should be made for pheochromocytoma in the context of pregnancy, as there may be adverse effects to both mother and foetus.

• #61 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #62 Pheochromocytoma Crisis | IntechOpen

  https://www.intechopen.com/chapters/55596

  Pheochromocytomas are rare tumours of the adrenal gland that secrete catecholamines. […] Pheochromocytomas arise from the chromaffin cells of the adrenal medulla. […] Pheochromocytomas can cause sustained hypertension if there is continuous secretion of catecholamines, but can also cause paroxysmal hypertension with associated symptoms. […] PMC can occur spontaneously, if there is necrosis or haemorrhage of the tumour itself or if there is any source of external pressure on the tumour. […] Many medications have been associated with PMC, including blockers, glucocorticoids, metoclopramide, various anaesthetic agents, tricyclic antidepressants, MAO inhibitors, opiates, methyldopa, nicotine, cocaine and certain radio contrast media. […] Special considerations should be made for pheochromocytoma in the context of pregnancy, as there may be adverse effects to both mother and foetus.

• #63 Pheochromocytoma Crisis | IntechOpen

  https://www.intechopen.com/chapters/55596

  Pheochromocytomas are rare tumours of the adrenal gland that secrete catecholamines. […] Pheochromocytomas arise from the chromaffin cells of the adrenal medulla. […] Pheochromocytomas can cause sustained hypertension if there is continuous secretion of catecholamines, but can also cause paroxysmal hypertension with associated symptoms. […] PMC can occur spontaneously, if there is necrosis or haemorrhage of the tumour itself or if there is any source of external pressure on the tumour. […] Many medications have been associated with PMC, including blockers, glucocorticoids, metoclopramide, various anaesthetic agents, tricyclic antidepressants, MAO inhibitors, opiates, methyldopa, nicotine, cocaine and certain radio contrast media. […] Special considerations should be made for pheochromocytoma in the context of pregnancy, as there may be adverse effects to both mother and foetus.

• #64 Pheochromocytoma Crisis | IntechOpen

  https://www.intechopen.com/chapters/55596

  Pheochromocytomas are rare tumours of the adrenal gland that secrete catecholamines. […] Pheochromocytomas arise from the chromaffin cells of the adrenal medulla. […] Pheochromocytomas can cause sustained hypertension if there is continuous secretion of catecholamines, but can also cause paroxysmal hypertension with associated symptoms. […] PMC can occur spontaneously, if there is necrosis or haemorrhage of the tumour itself or if there is any source of external pressure on the tumour. […] Many medications have been associated with PMC, including blockers, glucocorticoids, metoclopramide, various anaesthetic agents, tricyclic antidepressants, MAO inhibitors, opiates, methyldopa, nicotine, cocaine and certain radio contrast media. […] Special considerations should be made for pheochromocytoma in the context of pregnancy, as there may be adverse effects to both mother and foetus.

• #65 Pheochromocytoma | The Surgery Group

  https://thesurgerygroup.com/condition/pheochromocytoma/

  Pheochromocytoma is an uncommon tumor that forms on the adrenal glands. […] Doctors do not know what causes pheochromocytoma, although a family history of such tumors is important. […] High blood pressure typically comes and goes when it is caused by pheochromocytoma. Instances may be triggered by factors that include: pregnancy, labor and delivery, anxiety or high levels of stress, physical activity or exertion, surgery and anesthesia, changes in body position, consuming foods high in tyramine, consuming stimulants like cocaine or amphetamines, taking an MAOI medication.

• #66 Pheochromocytoma: Symptoms, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/318203

  Pheochromocytoma is a rare tumor that develops in the adrenal glands. […] Doctors do not know exactly what causes pheochromocytoma. Many appear randomly, but genetic factors appear to play a role in some cases. […] In around 2535% of cases, a person inherits the condition, according to the National Organization for Rare Diseases. […] A person with genetic features linked to pheochromocytoma may also have a higher risk of developing a range of other conditions, including: von HippelLindau syndrome, multiple endocrine neoplasia type 2, neurofibromatosis type 1, SturgeWeber syndrome. […] A compound called tyramine may also trigger symptoms. Tyramine is present in fermented or aged foods, such as red wine, chocolate, and some cheeses. […] In some people, certain drugs may also trigger symptoms. For example, monoamine oxidase inhibitors a treatment option for depression and other mental health conditions have been known to trigger symptoms.

• #67 Pheochromocytoma | The Surgery Group

  https://thesurgerygroup.com/condition/pheochromocytoma/

  Pheochromocytoma is an uncommon tumor that forms on the adrenal glands. […] Doctors do not know what causes pheochromocytoma, although a family history of such tumors is important. […] High blood pressure typically comes and goes when it is caused by pheochromocytoma. Instances may be triggered by factors that include: pregnancy, labor and delivery, anxiety or high levels of stress, physical activity or exertion, surgery and anesthesia, changes in body position, consuming foods high in tyramine, consuming stimulants like cocaine or amphetamines, taking an MAOI medication.

• #68 Pheochromocytoma FAQs: Treatment & Diagnosis – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma/pheochromocytoma-treatment-diagnosis

  Inherited syndromes that have been linked to pheochromocytoma include: Multiple Endocrine Neoplasia type 2 (MEN-2, both type -2A and -2B), Neurofibromatosis 1 (NF-1), Von Hippel-Lindau Disease (VHL), Familial pheochromocytoma/paraganglioma syndrome (SDHB, SDHD). […] Inherited pheochromocytoma patients are much more likely to develop multiple tumors and tumors lying outside of the adrenal gland. […] The likelihood of malignant pheochromocytoma appears to depend heavily on the underlying mutation. […] For most sporadic pheochromocytomas, less than 10% turn out to be malignant. […] The highest rate of malignancy is associated with the SDHB mutation (familial pheochromocytoma/paraganglioma syndrome) which may carry malignancy rates above 50%.

• #69 Pheochromocytoma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/pheochromocytoma

  A pheochromocytoma (fee-o- kroe-moe- sy-TOE- muh) is a rare, usually slow-growing, neuroendocrine tumor that develops in cells in the center of an adrenal gland called the adrenal medulla. […] 30-40% of pheochromocytomas and paragangliomas are hereditary. If you are diagnosed with pheochromocytoma talk to your doctor about genetic testing. […] In 15%-25% of the cases of pheochromocytoma, the disease is metastatic and has spread to other organs. […] All pheochromocytoma have the potential to become metastatic, or spread to other parts of the body. This happens in approximately 15-25% of pheo cases. […] It is highly recommended for metastatic patients to receive treatment from an experienced, multi-disciplinary pheo para team. […] There are currently no cures for metastatic pheochromocytoma. However, existing treatment options may reduce tumors and prolong survival. […] Some genetic mutations are more likely to develop metastatic pheo.

• #70 Pheochromocytoma FAQs: Treatment & Diagnosis – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/conditions-treated/adrenal/adrenal-tumors/pheochromocytoma/pheochromocytoma-treatment-diagnosis

  Inherited syndromes that have been linked to pheochromocytoma include: Multiple Endocrine Neoplasia type 2 (MEN-2, both type -2A and -2B), Neurofibromatosis 1 (NF-1), Von Hippel-Lindau Disease (VHL), Familial pheochromocytoma/paraganglioma syndrome (SDHB, SDHD). […] Inherited pheochromocytoma patients are much more likely to develop multiple tumors and tumors lying outside of the adrenal gland. […] The likelihood of malignant pheochromocytoma appears to depend heavily on the underlying mutation. […] For most sporadic pheochromocytomas, less than 10% turn out to be malignant. […] The highest rate of malignancy is associated with the SDHB mutation (familial pheochromocytoma/paraganglioma syndrome) which may carry malignancy rates above 50%.

• #71 Pheochromocytoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/phaeochromocytoma-1?lang=us

  Pheochromocytomas are an uncommon tumor of the adrenal gland, with characteristic clinical, and to a lesser degree, imaging features. The majority of cases are sporadic. In 25% of cases, a pheochromocytoma is a manifestation of an underlying condition, often familial, including multiple endocrine neoplasia type II (MEN2): both MEN IIa and MEN IIb, von Hippel-Lindau disease, neurofibromatosis type 1, Sturge-Weber syndrome, Carney triad, tuberous sclerosis, and familial pheochromocytoma. Approximately 10% of all pheochromocytomas are not located in the adrenal glands. Extra-adrenal tumors are more likely to be malignant and metastasize. Succinate dehydrogenase subunit B (SDHB) gene mutations are considered one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL) and are also thought to be associated with an aggressive clinical disease course.

• #72 Pheochromocytoma – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/adrenal-disorders/pheochromocytoma

  Pheochromocytomas may also be located in other tissues derived from neural crest cells. Possible sites include the following: […] Pheochromocytomas in the adrenal medulla occur equally in both sexes, are bilateral in 10% of cases (20% in children), and are malignant in 10% (1). Of extra-adrenal pheochromocytomas (known as paragangliomas), 30% are malignant. Although pheochromocytomas occur at any age, peak incidence is between 20 and 40 years. Nearly 50% are thought to be due to germline mutations. Extra-adrenal pheochromocytomas are more likely to be malignant and metastasize. […] Familial pheochromocytomas and carotid body tumors may be due to mutations in genes encoding the enzyme succinate dehydrogenase or other signaling molecules.

• #73 Diagnosis and Treatment of Pheochromocytoma

  https://www.urology-textbook.com/pheochromocytoma.html

  Most pheochromocytomas arise from the chromaffin cells of the adrenal medulla. However, 10-20% are located extraadrenally, e.g., in the paravertebral ganglia and the ganglia of abdominal organs. […] Sporadic pheochromocytoma is malignant in 10%, familial pheochromocytoma in 25%. Other risk factors for malignancy include tumor size greater than 5 cm and a Ki-67 index greater than 3%. […] All patients with pheochromocytoma should be screened for the following entities for early diagnosis of other carcinomas: MEN (multiple endocrine neoplasia) type IIa (Sipple disease): medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism. […] MEN type IIb (Gorlin disease): medullary thyroid carcinoma, pheochromocytoma, ganglioneuromatosis (intestine, neurofibromas), and marfanoid habitus.

• #74 Diagnosis and Treatment of Pheochromocytoma

  https://www.urology-textbook.com/pheochromocytoma.html

  Most pheochromocytomas arise from the chromaffin cells of the adrenal medulla. However, 10-20% are located extraadrenally, e.g., in the paravertebral ganglia and the ganglia of abdominal organs. […] Sporadic pheochromocytoma is malignant in 10%, familial pheochromocytoma in 25%. Other risk factors for malignancy include tumor size greater than 5 cm and a Ki-67 index greater than 3%. […] All patients with pheochromocytoma should be screened for the following entities for early diagnosis of other carcinomas: MEN (multiple endocrine neoplasia) type IIa (Sipple disease): medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism. […] MEN type IIb (Gorlin disease): medullary thyroid carcinoma, pheochromocytoma, ganglioneuromatosis (intestine, neurofibromas), and marfanoid habitus.

• #75 Pheochromocytoma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/pheochromocytoma

  A pheochromocytoma (fee-o- kroe-moe- sy-TOE- muh) is a rare, usually slow-growing, neuroendocrine tumor that develops in cells in the center of an adrenal gland called the adrenal medulla. […] 30-40% of pheochromocytomas and paragangliomas are hereditary. If you are diagnosed with pheochromocytoma talk to your doctor about genetic testing. […] In 15%-25% of the cases of pheochromocytoma, the disease is metastatic and has spread to other organs. […] All pheochromocytoma have the potential to become metastatic, or spread to other parts of the body. This happens in approximately 15-25% of pheo cases. […] It is highly recommended for metastatic patients to receive treatment from an experienced, multi-disciplinary pheo para team. […] There are currently no cures for metastatic pheochromocytoma. However, existing treatment options may reduce tumors and prolong survival. […] Some genetic mutations are more likely to develop metastatic pheo.

• #76 Pheochromocytoma – Wikipedia

  https://en.wikipedia.org/wiki/Pheochromocytoma

  Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. […] Current estimates predict that upwards of 40% of all pheochromocytomas are related to an inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. […] Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a pheochromocytoma undergo an evaluation with a genetic counselor to consider genetic testing. […] The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. […] Determining the genetic status of a pheochromocytoma patient is crucial each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. […] There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with pheochromocytoma, but no current evidence of disease) should be evaluated.

• #77 Pheochromocytoma – Wikipedia

  https://en.wikipedia.org/wiki/Pheochromocytoma

  Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. […] Current estimates predict that upwards of 40% of all pheochromocytomas are related to an inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. […] Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a pheochromocytoma undergo an evaluation with a genetic counselor to consider genetic testing. […] The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. […] Determining the genetic status of a pheochromocytoma patient is crucial each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. […] There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with pheochromocytoma, but no current evidence of disease) should be evaluated.

• #78 Pheochromocytoma: Symptoms, Treatment, and More

  https://www.verywellhealth.com/pheochromocytoma-overview-and-more-5196422

  Pheochromocytomas occur sporadically, with up to 40% now thought to be related to germline (hereditary) mutations (mutations that are present in genes at birth). […] Hereditary pheochromocytomas tend to occur in people younger than age 30 and are more likely to be bilateral (occurring in both adrenal glands). […] Among tumors that are not associated with a genetic syndrome, no known environmental or lifestyle risk factors have been identified, and the disease does not seem to vary based on dietary practices. […] Gene mutations may account for up to 40% of pheochromocytomas. Otherwise, no environmental, lifestyle, or dietary risk factors have been identified.

• #79 Pheochromocytoma: Symptoms, Treatment, and More

  https://www.verywellhealth.com/pheochromocytoma-overview-and-more-5196422

  Pheochromocytomas occur sporadically, with up to 40% now thought to be related to germline (hereditary) mutations (mutations that are present in genes at birth). […] Hereditary pheochromocytomas tend to occur in people younger than age 30 and are more likely to be bilateral (occurring in both adrenal glands). […] Among tumors that are not associated with a genetic syndrome, no known environmental or lifestyle risk factors have been identified, and the disease does not seem to vary based on dietary practices. […] Gene mutations may account for up to 40% of pheochromocytomas. Otherwise, no environmental, lifestyle, or dietary risk factors have been identified.

• #80 Pheochromocytoma Symptoms, Treatment, Diagnosis & Prognosis

  https://www.medicinenet.com/pheochromocytoma/article.htm

  Pheochromocytomas are a type of tumor of the adrenal glands that can release high levels of epinephrine and norepinephrine. […] Anything that can cause overactivity of the sympathetic nervous system can be on the list of diagnoses to rule out when suspecting a pheochromocytoma. […] Pheochromocytomas can be a component of certain familial or genetic syndromes. The most common familial condition is called multiple endocrine neoplasias, or MEN for short. Two types of MEN — MEN 2A and 2B — are associated with pheochromocytomas. […] Many individuals have pheochromocytomas with no known family history of them. These cases are termed sporadic. In general, if these patients have bilateral disease (pheochromocytomas in both adrenal glands) or are diagnosed before the age of 21, genetic screening is recommended.

• #81 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal medulla and the sympathetic or parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. Approximately half of these are attributable to variants in one of the succinate dehydrogenase (SDHx) genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] Constitutional variants of specific genes are principally associated with PPGL predisposition. […] Other genes in which variants are associated with PPGL susceptibility include: MAX, which encodes a leucine zipper type transcription factor and a member of the MYC/MAX/MXD proteins network; and TMEM27, which encodes a negative regulator of the mTOR pathway.

• #82 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal medulla and the sympathetic or parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. Approximately half of these are attributable to variants in one of the succinate dehydrogenase (SDHx) genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] Constitutional variants of specific genes are principally associated with PPGL predisposition. […] Other genes in which variants are associated with PPGL susceptibility include: MAX, which encodes a leucine zipper type transcription factor and a member of the MYC/MAX/MXD proteins network; and TMEM27, which encodes a negative regulator of the mTOR pathway.

• #83 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  VHL disease is caused by mutations in the VHL gene. […] This gene encodes a protein that plays a role in cilia formation, regulation of cellular senescence, and the oxygen-sensing pathway. […] Neurofibromatosis, or von Recklinghausen disease, is characterized by congenital anomalies (often benign tumors) of the skin, nervous system, bones, and endocrine glands. […] Other neuroectodermal disorders associated with pheochromocytomas include tuberous sclerosis (Bourneville disease, epiloia) and Sturge-Weber syndrome. […] The succinate dehydrogenase complex subunit D protein is encoded by the SDHD gene, mutations in which cause pheochromocytomas, paragangliomas, and other tumors. […] The succinate dehydrogenase complex subunit B protein is encoded by the SDHB gene. Mutations in this gene are known to cause carotid body tumors and paragangliomas and are inherited in an autosomal dominant fashion. […] Although its genetics remain incompletely understood, hemihyperplasia (also called hemihypertrophy) is known to increase tumor risk. […] The condition may be an isolated finding or a part of a larger syndrome such as Beckwith-Wiedemann syndrome, Proteus syndrome, or neurofibromatosis.

• #84 Pheochromocytoma – National Adrenal Diseases Foundation

  https://www.nadf.us/pheochromocytoma.html

  Pheochromocytomas are caused by germline mutations in about 40% of patients (these are mutations that can be inherited), or as part of other familial syndromes, but they also can be sporadic caused by somatic mutations (these mutations occur in the tumor cells only and cannot be inherited) or other genetic alterations at a cellular level. […] The identification of new hereditary forms of PPGL has led to the highest rate of germline susceptibility in cancer genetics at almost 40%. […] Many of these gene mutations can be inherited and passed to the patients children. […] Pheochromocytoma can be a solitary disease affecting only the adrenal gland, and in other situations they can develop alongside paraganglioma in some genetic mutations, such as those of the following genes: SHDA, SDHB, SDHC, SDHD. […] In cases where pheochromocytoma is a manifestation of other syndromes, association with other tumors or cancers can occur.

• #85 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Pheochromocytomas can arise sporadically or have a familial origin. Recent studies suggest that up to 35% of cases may be linked to germline mutations. Familial syndromes known to be associated with pheochromocytomas include VHL disease, MEN2, and NF1. […] Over half of pheochromocytomas occur sporadically, without any known connection to inherited disorders, and their underlying cause often remains unknown. However, individuals with a family history of pheochromocytoma or paraganglioma have an increased risk of developing the condition. […] Pheochromocytomas can develop due to the factors mentioned below. […] Genetics: Inherited mutations in various genes, including RET, VHL, or NF1, can lead to pheochromocytoma. […] Sporadic: Approximately two-thirds of pheochromocytomas occur spontaneously, without a known family history. However, genetic factors may still be involved in these instances. […] Additional factors: Other contributors to pheochromocytoma (or its discovery) include intense physical activity, trauma, emotional stress, childbirth, anesthesia, and surgery.

• #86 Pheochromocytoma – USZ

  https://www.usz.ch/en/disease/pheochromocytoma/

  The causes often remain unclear; however, around a third of all pheochromocytomas are attributable to genetic changes. […] The causes of pheochromocytoma, especially in sporadic forms, are often unclear. The situation is different with familial pheochromocytomas, in which various genes are altered and involved in the development. […] In around 25 to 40 percent of people with a pheochromocytoma, hereditary factors play a role.

• #87 Pheochromocytoma – Wikipedia

  https://en.wikipedia.org/wiki/Pheochromocytoma

  Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. […] Current estimates predict that upwards of 40% of all pheochromocytomas are related to an inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. […] Given the high association with genetic inheritance, the United States Endocrine Society recommends that all patients diagnosed with a pheochromocytoma undergo an evaluation with a genetic counselor to consider genetic testing. […] The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. […] Determining the genetic status of a pheochromocytoma patient is crucial each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond more favorably to certain treatment options. […] There is no current consensus for how and when asymptomatic carriers (individual who has a genetic variant associated with pheochromocytoma, but no current evidence of disease) should be evaluated.

• #88 Pheochromocytoma – National Adrenal Diseases Foundation

  https://www.nadf.us/pheochromocytoma.html

  Pheochromocytomas are caused by germline mutations in about 40% of patients (these are mutations that can be inherited), or as part of other familial syndromes, but they also can be sporadic caused by somatic mutations (these mutations occur in the tumor cells only and cannot be inherited) or other genetic alterations at a cellular level. […] The identification of new hereditary forms of PPGL has led to the highest rate of germline susceptibility in cancer genetics at almost 40%. […] Many of these gene mutations can be inherited and passed to the patients children. […] Pheochromocytoma can be a solitary disease affecting only the adrenal gland, and in other situations they can develop alongside paraganglioma in some genetic mutations, such as those of the following genes: SHDA, SDHB, SDHC, SDHD. […] In cases where pheochromocytoma is a manifestation of other syndromes, association with other tumors or cancers can occur.

• #89 Pheochromocytoma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/pheochromocytoma

  A pheochromocytoma (fee-o- kroe-moe- sy-TOE- muh) is a rare, usually slow-growing, neuroendocrine tumor that develops in cells in the center of an adrenal gland called the adrenal medulla. […] 30-40% of pheochromocytomas and paragangliomas are hereditary. If you are diagnosed with pheochromocytoma talk to your doctor about genetic testing. […] In 15%-25% of the cases of pheochromocytoma, the disease is metastatic and has spread to other organs. […] All pheochromocytoma have the potential to become metastatic, or spread to other parts of the body. This happens in approximately 15-25% of pheo cases. […] It is highly recommended for metastatic patients to receive treatment from an experienced, multi-disciplinary pheo para team. […] There are currently no cures for metastatic pheochromocytoma. However, existing treatment options may reduce tumors and prolong survival. […] Some genetic mutations are more likely to develop metastatic pheo.

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