Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

Sakari Vanharanta, Mary Buchta, Sarah R. McWhinney, Sanna K. Virta, Mariola Peçzkowska, Carl D. Morrison, Rainer Lehtonen, Andrzej Januszewicz, Heikki Järvinen, Matti Juhola, Jukka Pekka Mecklin, Eero Pukkala, Riitta Herva, Maija Ht Kiuru, Nina N. Nupponen, Lauri A. Aaltonen, Hartmut P H Neumann, Charis Eng

Research output: Contribution to journalArticlepeer-review

288 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)153-159
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - Jan 2004
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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