Pheochromocytoma causes: Difference between revisions
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===Genetic Causes=== | ===Genetic Causes=== | ||
Pheochromocytoma of the familial type may be caused by a mutation in the following genes: | |||
*[[RET gene|RET]] gene ([[MEN, type 2a|MEN 2A]], [[Multiple endocrine neoplasia type 2|MEN 2B]] [[Syndrome|syndromes]]) | |||
*[[NF1|NF1 gene]] | |||
*[[Von Hippel-Lindau tumor suppressor|VHL gene]] ([[Von Hippel-Lindau disease|VHL disease]]) | |||
*[[SDHD]], [[SDHB]], and [[SDHC]] genes of the [[Mitochondrial|mitochondrial complex]] <ref name="pmid15883706">{{cite journal| author=Gimm O| title=Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx. | journal=Fam Cancer | year= 2005 | volume= 4 | issue= 1 | pages= 17-23 | pmid=15883706 | doi=10.1007/s10689-004-5740-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15883706 }} </ref> | |||
* | *[[SDHA]], [[SDHAF2]], [[TMEM127]] (transmembrane protein 127), [[MAX (gene)|MAX]] (myc-associated factor X), [[Fumarate hydratase|FH]] (fumarate hydratase), [[PDH complex|PDH1]], PDH2 (pyruvate dehydrogenase), [[Hypoxia inducible factors|HIF1alpha]] (hypoxia-inducible factor), [[MDH1|MDH2]] (malate dehydrogenase), and KIF1Bß (kinesin family member) genes. <ref>{{cite book | last = Jameson | first = J | title = Harrison's Principles of Internal Medicine 19th Edition and Harrison's Manual of Medicine 19th Edition VAL PAK | publisher = McGraw-Hill Medical | location = New York | year = 2017 | isbn = 978-1260128857 }} </ref> | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 23:48, 24 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2] Mohammed Abdelwahed M.D[3]
Overview
Pheochromocytoma arises from chromaffin cells, found in adrenal medulla which secrete adrenaline, noradrenaline, and dopamine. Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. Familial forms can be sub-divided into two major clusters based on genes causing the disease. Cluster 1 tumors are noradrenergic and cluster 2 tumors are adrenergic. Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes.
Causes
Life-threatening Causes
- Pheochromocytoma due to any cause may be life-threatening which may result in death.
Common Causes
- In most cases of pheochromocytoma, the cause is unknown.
- Sporadic form is more common
Less Common Causes
Less common causes of pheochromocytoma include:
- Familial form
- Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B
Genetic Causes
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 [1]
- 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 KIF1Bß (kinesin family member) genes. [2]
References
- ↑ Gimm O (2005). "Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx". Fam Cancer. 4 (1): 17–23. doi:10.1007/s10689-004-5740-1. PMID 15883706.
- ↑ Jameson, J (2017). Harrison's Principles of Internal Medicine 19th Edition and Harrison's Manual of Medicine 19th Edition VAL PAK. New York: McGraw-Hill Medical. ISBN 978-1260128857.