Early-onset Renal Cell Carcinoma As a Novel Extraparaganglial Component of SDHB-associated Heritable Paraganglioma

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2003 Dec 20

PMID 14685938

Citations 161

Authors

Sakari Vanharanta

Mary Buchta

Sarah R McWhinney

Sanna K Virta

Mariola Peczkowska

Carl D Morrison

Rainer Lehtonen

Andrzej Januszewicz

Heikki Jarvinen

Matti Juhola

Jukka-Pekka Mecklin

Eero Pukkala

Riitta Herva

Maija Kiuru

Nina N Nupponen

Lauri A Aaltonen

Hartmut P H Neumann

Charis Eng

Affiliations

Soon will be listed here.

Abstract

Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode mitochondrial succinate dehydrogenase. Extraparaganglial component neoplasias have never been previously documented. In a population-based registry of symptomatic presentations of phaeochromocytoma/paraganglioma comprising 352 registrants, among whom 16 unrelated registrants were SDHB mutation positive, one family with germline SDHB mutation c.847-50delTCTC had two members with renal cell carcinoma (RCC), of solid histology, at ages 24 and 26 years. Both also had paraganglioma. A registry of early-onset RCCs revealed a family comprising a son with clear-cell RCC and his mother with a cardiac tumor, both with the germline SDHB R27X mutation. The cardiac tumor proved to be a paraganglioma. All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.

Citing Articles

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