Materiały źródłowe

• #1 Pheochromocytoma – Symptoms and causes – Mayo Clinic

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

  A pheochromocytoma is a rare tumor that grows in an adrenal gland. Most often, the tumor is not cancer and has not spread to other parts of the body. This is called benign or nonmetastatic pheochromocytoma. Rarely, the tumor is cancer and has spread to other parts of the body. This is called malignant or metastatic pheochromocytoma. […] 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. […] A pheochromocytoma causes more of these hormones to be released. And it causes them to be released when you’re not in a threatening situation. […] 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).

• #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

  https://www.mymlc.com/health-information/diseases-and-conditions/p/pheochromocytoma/?section=Risk%20factors

  Researchers don’t know exactly what causes a pheochromocytoma. The tumor develops in specialized cells, called chromaffin cells, located in the center of an adrenal gland. These cells release certain hormones, primarily adrenaline (epinephrine) and noradrenaline (norepinephrine), that help control many body functions, such as heart rate, blood pressure and blood sugar. […] A pheochromocytoma causes more of these hormones to be released and causes them to be released when you’re not in a threatening situation. […] People who have certain rare inherited disorders have an increased risk of pheochromocytoma or paraganglioma. Tumors associated with these disorders are more likely to be cancerous. These genetic conditions include: Multiple endocrine neoplasia, type 2 (MEN 2) is a disorder that results in tumors in more than one part of the body’s hormone-producing (endocrine) system. Other tumors associated with this condition can appear on the thyroid, parathyroid, lips, tongue and gastrointestinal tract.

• #4 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. Most doctors will see only one patient with pheochromocytoma in their whole career, and even large hospitals will admit on average only one patient per year. 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. Usually, headaches due to pheochromocytoma occur simultaneously with an abrupt increase in blood pressure. 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.

• #5 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.

• #6 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: Paraganglia of the sympathetic chain, Retroperitoneally along the course of the aorta, Carotid body, Organ of Zuckerkandl (at the aortic bifurcation), Genitourinary system, Brain, Pericardial sac, Dermoid cysts. […] Pheochromocytomas in the adrenal medulla occur equally in both sexes, are bilateral in 10% of cases (20% in children), and are malignant in 10%. 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.

• #7 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.

• #8 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.

• #9 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.

• #10 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.

• #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 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%.

• #13 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.

• #14 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. 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.

• #15 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. 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.

• #16 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. 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. […] 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.

• #17 Pheochromocytoma

  https://www.mymlc.com/health-information/diseases-and-conditions/p/pheochromocytoma/?section=Risk%20factors

  Von Hippel-Lindau disease can result in tumors at multiple sites, including the central nervous system, endocrine system, pancreas and kidneys. […] Neurofibromatosis 1 (NF1) results in multiple tumors in the skin (neurofibromas), pigmented skin spots and tumors of the optic nerve. […] Hereditary paraganglioma syndromes are inherited disorders that result in either pheochromocytomas or paragangliomas.

• #18 Pheochromocytoma: Symptoms, Causes, Risk Factors , Diagnosis, Treatment & Complications

  https://ghealth121.com/treatments/pheochromocytoma/

  Neurofibromatosis 1 (NF1) – This can result in multiple tumors in the skin, pigmented skin spots as well as tumors of the optic nerve. […] Von Hippel-Lindau disease – This disorder can result in tumors at multiple sites, which can include the central nervous system, endocrine system, pancreas as well as kidneys. […] Hereditary paraganglioma syndromes – These are inherited disorders which may result in paragangliomas or pheochromocytomas.

• #19 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. 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. […] 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.

• #20 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.

• #21 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%.

• #22 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)

• #23 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.

• #24 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)

• #25 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.

• #26 Pheochromocytoma | Quirónsalud

  https://www.quironsalud.com/en/enfermedades-sintomas/pheochromocytoma

  Pheochromocytoma is a type of neuroendocrine tumor located in the adrenal glands, which sit atop the kidneys. It originates from chromaffin cells, which are responsible for synthesizing catecholamines (adrenaline, noradrenaline, and dopamine), hormones that play a role in the stress response. As a result, pheochromocytoma causes an increased and dysregulated secretion of catecholamines. […] The development of pheochromocytomas is linked to mutations in certain predisposing genes: RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, MDH2, IDH1, PHD1/PHD2, HIF2A/EPAS1/2, TMEM127, MAX, HRAS, MAML3, and CSDE1. These mutations can occur spontaneously or be inherited. In the case of inherited mutations, most are associated with one of the following genetic neoplastic syndromes: Multiple endocrine neoplasia type 2A and 2B, Von Hippel-Lindau syndrome, Neurofibromatosis type 1, Hereditary paraganglioma syndrome, Carney-Stratakis syndrome, Carney syndrome.

• #27 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.

• #28 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)

• #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

  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.

• #30 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. 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. […] 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.

• #31 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.

• #32 Pheochromocytoma: Symptoms, Treatment, and More

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

  Pheochromocytomas are very rare, with only two to eight cases diagnosed per 1 million people each year. […] Roughly 60% of 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.

• #33 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.

• #34 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.

• #35 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.

• #36 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.

• #37 Pheochromocytoma: Symptoms, Treatment, and More

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

  Pheochromocytomas are very rare, with only two to eight cases diagnosed per 1 million people each year. […] Roughly 60% of 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.

• #38 Environmental Triggers and Risk Factors for Pheochromocytoma

  https://www.rupahealth.com/post/environmental-triggers-and-risk-factors-for-pheochromocytoma

  Pheochromocytoma is a rare but treatable tumor that can have significant side effects due to its excessive hormone production. […] While many pheochromocytomas are hereditary and linked to specific genetic mutations, they can also occur sporadically. […] Pheochromocytoma development is largely influenced by genetics, and few environmental risk factors have been clearly identified. However, hypoxia is one known environmental risk factor that can increase the likelihood of pheochromocytoma, potentially by enhancing genetic susceptibility. […] The only broadly recognized environmental trigger for pheochromocytoma is hypoxia. […] Hypoxia, or low oxygen levels, is strongly linked to the development of pheochromocytomas. […] Hypoxia can be caused by environmental triggers, or by genetic mutations. Many of the genes linked with pheochromocytoma are known to affect tissue oxygenation.

• #39 Environmental Triggers and Risk Factors for Pheochromocytoma

  https://www.rupahealth.com/post/environmental-triggers-and-risk-factors-for-pheochromocytoma

  Environmental risk factors that contribute to neuroendocrine tumor development include exposure to tobacco smoke, alcohol, and obesity-related metabolic disturbances like diabetes. […] Both genetic mutations and environmental factors like hypoxia play significant roles in the development of pheochromocytoma, with genes such as EPAS1 and SDH being key in tumor growth. […] Hypoxia, caused by factors like congenital heart disease or high-altitude living, is strongly linked to an increased risk of pheochromocytoma, particularly through its impact on oxygen-sensing genes.

• #40 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.

• #41 Pheochromocytoma | The Surgery Group

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

  Pheochromocytoma is an uncommon tumor that forms on the adrenal glands. In most cases, this tumor will affect just one of the adrenal glands. However, it is possible for both to be affected. […] 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, and consuming stimulants like cocaine or amphetamines. […] Most people who develop pheochromocytoma are between the ages of 20 and 50. However, these tumors can affect people of any age.

• #42 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.

• #43 What is the most common symptom of pheochromocytoma? Causes

  https://www.emedicinehealth.com/the_most_common_symptom_of_pheochromocytoma/article_em.htm

  About one-third of cases of pheochromocytoma are caused by an inherited genetic mutation. The other two-thirds of cases do not have a known cause (idiopathic). […] Pheochromocytoma spells may be caused by certain triggers, such as: Stress, Physical activity, Certain medications such as beta-blockers or anesthetics, Surgery, Childbirth, Massage, Pressure on the tumor, Foods that contain large amounts of the amino acid tyramine, such as chocolate, cheese, and red wine.

• #44 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.

• #45 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.

• #46 What is the most common symptom of pheochromocytoma? Causes

  https://www.emedicinehealth.com/the_most_common_symptom_of_pheochromocytoma/article_em.htm

  About one-third of cases of pheochromocytoma are caused by an inherited genetic mutation. The other two-thirds of cases do not have a known cause (idiopathic). […] Pheochromocytoma spells may be caused by certain triggers, such as: Stress, Physical activity, Certain medications such as beta-blockers or anesthetics, Surgery, Childbirth, Massage, Pressure on the tumor, Foods that contain large amounts of the amino acid tyramine, such as chocolate, cheese, and red wine.

• #47 Pheochromocytoma | The Surgery Group

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

  Pheochromocytoma is an uncommon tumor that forms on the adrenal glands. In most cases, this tumor will affect just one of the adrenal glands. However, it is possible for both to be affected. […] 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, and consuming stimulants like cocaine or amphetamines. […] Most people who develop pheochromocytoma are between the ages of 20 and 50. However, these tumors can affect people of any age.

• #48 Pheochromocytoma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/pheochromocytoma

  A pheochromocytoma 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. […] Some genetic mutations are more likely to develop metastatic pheo.

• #49 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%.

• #50 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%.

• #51 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%.

• #52 Pheochromocytoma: A Rare Etiology of Hypertension in the Pediatric Population – Southern Medical Association

  https://sma.org/abstracts/a-rare-etiology-of-hypertension/

  Pheochromocytoma (PCC) is a neuroendocrine tumor that arises from the adrenal medulla. Most are sporadic but they can also be found in the context of a hereditary syndrome. […] Pheochromocytomas are rare tumors in the general population more so in the pediatric population. These tumors are seen in 0.5-2% of pediatric cases. […] Final pathology report showed evidence of a succinate dehydrogenase B (SDHB) mutation, which is associated with a possible malignant potential.

• #53 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.

• #54 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.

• #55 Pheochromocytoma – Wikipedia

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

  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. […] Furthermore, early identification can guide physicians on screening recommendations for first degree relatives of patients with pheochromocytoma.

• #56 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.

• #57 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%.

• #58 Pheochromocytoma – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/pheochromocytoma/

  Pheochromocytomas and paragangliomas are rare, with an estimated incidence of 2 to 8 diagnoses per every 1 million people each year. However, the actual incidence is unknown, as many people with the tumors are never diagnosed. About 0.05 to 0.2% of hypertensive patients have a pheochromocytoma. […] The causes of pheochromocytomas are largely unknown, with most cases occurring sporadically. However, approximately 35% of cases are caused by genetic mutations that are inherited in an autosomal dominant pattern. Pheochromocytomas are associated with familial syndromes, such as multiple endocrine neoplasia syndromes type IIA and type IIB, Von Hippel-Lindau syndrome, and type 1 neurofibromatosis.

• #59 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.

• #60 Paraganglioma: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/22394-paraganglioma

  In most cases of paraganglioma, the exact cause is unknown, and it occurs randomly. Approximately 25% to 35% of people who have paraganglioma have a hereditary condition (passed through the family) that’s linked to paraganglioma, including: […] While most paraganglioma cases have an unknown cause, there’s a significant link to certain inherited conditions. If you or one of your first-degree relatives have been diagnosed with paraganglioma or pheochromocytoma, it’s important to go through genetic testing to make sure you don’t have a genetic condition that could potentially cause other medical issues.

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