CASE OF THE WEEK
2019-31 / SEPTEMBER 16
(CONTRIBUTOR: SOUNAK GUPTA)
1- Germline mutations in which of the following genes is associated with the development of pheochromocytomas/paragangliomas?
a. MEN1 & RET.
b. MEN1 & VHL.
c. SDHX & TSC1/2.
d. SDHX & FH.
Quiz
1- Germline mutations in which of the following genes is associated with the development of pheochromocytomas/paragangliomas?
a. MEN1 & RET.
b. MEN1 & VHL.
c. SDHX & TSC1/2.
d. SDHX & FH.
1. d
1. SDHX & FH
Pheochromocytomas commonly manifest as a part of Multiple Endocrine Neoplasia 2 A&B and Von Hippel-Lindau syndromes (secondary to alterations of the RET and VHL genes, respectively).
Pheochromocytoma/paragangliomas do not typically present as a part of Multiple Endocrine Neoplasia 1 syndrome or Tuberous Sclerosis (secondary to alterations of the MEN1 and TSC1/TSC2 genes, respectively).
Extra-adrenal paragangliomas commonly occur due to germline mutations of the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, and SDHAF2) and fumarate hydratase (FH) genes.
Guo Z, Lloyd RV. Pheochromocytomas and Paragangliomas: An Update on Recent Molecular Genetic Advances and Criteria for Malignancy. .
Adv Anat Pathol. 2015 Sep;22(5):283-93.
Sounak Gupta
Guptas1@mskcc.org
Adrenal
Pheochromocytoma, Paraganglioma, SDH, FH, Adrenal