Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-
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- 作者：Sakari Vanharanta ; Mary Buchta ; Sarah R. McWhinney ; Sanna K. Virta ; Mariola Peç ; zkowska ; Carl D. Morrison ; Rainer Lehtonen ; Andrzej Januszewicz ; Heikki Jä ; rvinen ; Matti Juhola ; Jukka-Pekka Mecklin ; Eero Pukkala ; Riitta Herva ; Maija Kiuru ; Nina N. Nupponen ; Lauri A. Aaltonen ; Hartmut P.H. Neu
- 刊名：The American Journal of Human Genetics
- 出版年：2004
- 出版时间：January 2004
- 年：2004
- 卷：74
- 期：1
- 页码：153-159
- 全文大小：671 K
文摘
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.