Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
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DOI：
10.1086/381054
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发表时间：
2004-01-01
影响因子：
9.8
通讯作者：
Eng, C
中科院分区：
文献类型：
--
作者：
Vanharanta, S;Buchta, M;Eng, C
遗传性副神经节瘤综合征最近被证明是由编码线粒体琥珀酸脱氢酶的四个基因中的三个（SDHB、SDHC和SDHD）的种系杂合突变引起的。副神经节外成分瘤形成以前从未被记录。在一个以人群为基础的有症状的嗜铬细胞瘤/副神经节瘤登记研究中，包括352名登记者，其中16名无关登记者为SDHB突变阳性，1个家系具有生殖系SDHB突变c。847-50 delTCTC有两名成员患有实体组织学的肾细胞癌（RCC），年龄分别为24岁和26岁。两人都患有副神经节瘤。一项早发性RCC的登记研究显示，一个家族包括一个患有透明细胞RCC的儿子和一个患有心脏肿瘤的母亲，两人都患有种系SDHB R27 X突变。心脏肿瘤证实为副神经节瘤。所有RCC均显示剩余野生型等位基因丢失。我们的观察结果表明，生殖系SDHB突变可能易患早发性肾癌，除了副神经节瘤，并进行医疗监督的影响。
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.