Journal Article

Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

Pachter, Nicholas S, Benn, Diana E, Clarkson, Adele, Tucker, Katherine M, Winship, Ingrid M, Clifton-Bligh, Roderick J, Gill, Anthony J, Robinson, Bruce G

2011

Overview

This letter indicates that immunohistochemical analysis to detect succinic dehydrogenase subunit B (SDHB) protein can screen renal tumors for underlying SDHB germline mutations at a fraction of the time and cost of formal genetic testing. To the Editor: The genes for the succinate dehydrogenase subunits A, B, C, and D ( SDHA, SDHB, SDHC, and SDHD, respectively) encode proteins that form part of the mitochondrial complex II, which links the Krebs cycle and the electron-transport chain. Heterozygous germline mutations of SDHB, SDHC, and SDHD cause the well-characterized familial pheochromocytoma-paraganglioma syndromes known respectively as PGL4, PGL3, and PGL1. 1 SDHB, SDHC, and SDHD mutations have also been linked to gastrointestinal stromal tumor, and SDHB and SDHD have been linked to renal-cell carcinoma. These kindreds are rarely recognized when they present with gastrointestinal stromal tumor and they are . . .

• Publisher: Massachusetts Medical Society
• Subject: Carcinoma, Renal Cell - genetics / Carcinoma, Renal Cell - pathology / Germ-Line Mutation / Humans / Immunohistochemistry / Kidney Neoplasms - genetics / Kidney Neoplasms - pathology / Neoplastic Syndromes, Hereditary - genetics / Paraganglioma - genetics / Pheochromocytoma - genetics / Succinate Dehydrogenase - analysis / Succinate Dehydrogenase - genetics / Syndrome