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01-06-2015 | Case Report

Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association

Authors: Karen Gomez Hernandez, Shereen Ezzat, Chantal F. Morel, Carol Swallow, Mirek Otremba, Brendan C. Dickson, Sylvia L. Asa, Prof. Ozgur Mete

Published in: Virchows Archiv | Issue 6/2015

Abstract

Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC). Most recently, FH and TMEM127 germline mutations, which are known to cause familial PHEO/PGL, have also been identified in familial RCC. We report the first case of an individual with both a PHEO and a multilocular clear cell RCC driven by a novel germline mutation in the TMEM127 gene. Morphologically, both the PHEOs and multilocular RCC were indistinguishable from those associated with VHL disease. However, at the biochemical level, the predominant adrenergic catecholamine profile distinguishes this presentation from SDH- and VHL-related PHEOs. This case justifies the prioritization of genetic testing for germline TMEM127 in individuals with RCC and PHEO with a predominantly adrenergic phenotype.

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Title: Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association
Authors: Karen Gomez Hernandez
Shereen Ezzat
Chantal F. Morel
Carol Swallow
Mirek Otremba
Brendan C. Dickson
Sylvia L. Asa
Prof. Ozgur Mete
Publication date: 01-06-2015
Publisher: Springer Berlin Heidelberg
Published in: Virchows Archiv / Issue 6/2015
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-015-1755-2

ACC 2024 Congress

Springer Medicine

Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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