Molecular analysis of a case of renal cell carcinoma with t(6;11)(p21;q12) reveals a link to a lysosome-like structure.
Molecular analysis of a case of renal cell carcinoma with t(6;11)(p21;q12) reveals a link to a lysosome-like structure.
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对 t(6;11)(p21;q12) 肾细胞癌病例的分子分析揭示了与溶酶体样结构的联系。
DOI：
10.1111/his.12238
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发表时间：
2014
期刊：
影响因子：
6.4
通讯作者：
Nagashima Y
中科院分区：
文献类型：
--
作者：
Matsuura K;Inoue T;Kai T;Yano S;Kashima K;Yokoyama S;Sato F;Nomura T;Mimata H;Moriyama M;Kuroda N;Nagashima Y
< jats: p>肾嫌色细胞癌（< jats: styled-content style=" fixed-case">RCC）约占肾上皮肿瘤的5%。多发性和/或双侧嫌色细胞< jats: styled-content style=" fixed-case">RCC在个体中通常是罕见的，但经常发生在< jats: styled-content style=" fixed-case">B irt-H < jats: styled-content style=" fixed-case">ogg-< jats: styled-content style=" fixed-case">Dubé综合征（< jats: styled-content style=" fixed-case">BHDS）和结节性硬化症（< jats: styled-content style=" fixed-case">TSC）患者中。BHDS和TSC中的责任基因都< jats: styled-content style=" fixed-case">< jats: styled-content style=" fixed-case">起着肿瘤抑制剂的作用。因此，多重嫌色细胞癌的发生和发展需要一定的遗传背景< jats: styled-content style=" fixed-case">。在此，我们报告一例多发性和双侧嫌色细胞< jats: styled-content style=" fixed-case">RCC沿着几个小的包膜血管平滑肌脂肪瘤，称为“包膜瘤”，发生于一名39岁女性，她既没有特定的病史，也没有特定的基因突变。目前还没有报告的散发性多发性嫌色细胞< jats: styled-content style=" fixed-case">RCC和'包膜瘤'发展的患者没有遗传特征，具有潜在的新的遗传变异。
< jats: p> Chromophobe renal cell carcinoma (< jats: styled-content style=" fixed-case"> RCC) accounts for approximately 5% of renal epithelial neoplasms. Multiple and/or bilateral chromophobe< jats: styled-content style=" fixed-case"> RCCs in an individual are generally rare but frequently occur in patients with< jats: styled-content style=" fixed-case"> B irt–< jats: styled-content style=" fixed-case"> H ogg–< jats: styled-content style=" fixed-case"> D ubé syndrome (< jats: styled-content style=" fixed-case"> BHDS) and in patients with tuberous sclerosis complex (< jats: styled-content style=" fixed-case"> TSC). The responsible genes in both< jats: styled-content style=" fixed-case"> BHDS and< jats: styled-content style=" fixed-case"> TSC act as tumor suppressors. Therefore, it seems that some genetic backgrounds are required for the generation and progression of multiple chromophobe< jats: styled-content style=" fixed-case"> RCCs. Here, we report a case of multiple and bilateral chromophobe< jats: styled-content style=" fixed-case"> RCCs along with several small‐sized capsular angiomyolipomas known as ‘capsulomas’ in a 39‐year‐old woman who had neither a particular medical history nor specific gene mutation. There has been no report of sporadic multiple chromophobe< jats: styled-content style=" fixed-case"> RCCs and ‘capsulomas’ developing in a patient without genetic features, having potential for novel genetic variation.