Pheochromocytoma causes: Difference between revisions

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Revision as of 20:38, 2 September 2015

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

Causes

Mutations of the genes VHL, RET, NF1, SDHB and SDHD are all known to cause familial pheochromocytoma/extra-adrenal paraganglioma.

References

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 {{Pheochromocytoma}}
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+{{CMG}} {{AE}} {{AAM}}
 ==Overview==
 ==Causes==
-Up to 25% of pheochromocytomas may be [[familial]]. Mutations of the genes ''[[VHL]]'', ''RET'', ''NF1'', ''[[SDHB]]'' and ''[[SDHD]]'' are all known to cause  familial pheochromocytoma/extra-adrenal paraganglioma.
+*Mutations of the genes ''[[VHL]]'', ''[[RET]]'', ''NF1'', ''[[SDHB]]'' and ''[[SDHD]]'' are all known to cause  familial pheochromocytoma/extra-adrenal paraganglioma.
-Pheochromocytoma is a [[tumor]] of the [[multiple endocrine neoplasia]] syndrome, type IIA (also known as MEN IIA) and type IIB MEN IIB. The other component [[neoplasms]] of that syndrome include [[parathyroid]] [[adenomas]], and [[medullary thyroid cancer]].  [[Mutations]] in the [[autosomal]] RET [[proto-oncogene]] drives these malignancies
-<ref>{{OMIM|171400|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A}}</ref>.
-Common [[mutations]] in the RET oncogene may also account for [[medullary sponge kidney]] as well. <ref name="pmid11096158">{{cite journal |author=Diouf B, Ka EH, Calender A, Giraud S, Diop TM |title=Association of medullary sponge kidney disease and multiple endocrine neoplasia type IIA due to RET gene mutation: is there a causal relationship? |journal=Nephrol. Dial. Transplant. |volume=15 |issue=12 |pages=2062–3 |year=2000 |pmid=11096158|doi=10.1093/ndt/15.12.2062}}</ref>
-Pheochromocytoma linked to MEN II can be caused by RET oncogene mutations. Both syndromes are characterized by pheochromocytoma as well as  [[thyroid cancer]] (thyroid medullary carcinoma). MEN IIA also presents with hyperparathyroidism, while MEN IIB also presents with mucosal neuroma. It is now postulated that Lincoln suffered from MEN IIB, rather than [[Marfan's syndrome]] as previously thought, though this is uncertain.
 ==References==
 {{Reflist|2}}
 [[Category:Endocrinology]]
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Pheochromocytoma causes: Difference between revisions

Revision as of 20:38, 2 September 2015

Overview

Causes

References

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