Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with 'capsulomas' without FCLN gene abnormality.
Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with 'capsulomas' without FCLN gene abnormality.
复制标题
与无 FCLN 基因异常的“荚膜瘤”相关的多灶性和显微嫌色肾细胞癌性病变。
DOI：
10.1111/pin.12099
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Nagashima Y.
中科院分区：
文献类型：
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作者：
Sugimoto K;Takasawa A;Ichimiya S;Murata M;Kimura H;Aoyama T;Gille JJ;Kuroda N;Shimizu H;Hasegawa T;Sawada N;Furuya M;Nagashima Y.
嫌色肾细胞癌(RCC)约占肾脏上皮性肿瘤的5%。多发性和/或双侧嫌色RCC通常罕见，但常见于Birt-Hogg-Dubé综合征(BHDS)和结节性硬化症(TSC)患者。BHDS和TSC中的负责基因都起着肿瘤抑制基因的作用。因此，多重嫌色RCC的发生和发展似乎需要一定的遗传背景。在这里，我们报告了一例多发性和双侧嫌色肾细胞癌以及几个小的囊性血管肌脂肪瘤，称为“囊瘤”，患者为39岁，既无特殊病史，也无特定基因突变。目前还没有报道在没有遗传特征的患者中发生零星的多发性嫌色RCC和“囊瘤”，具有新的遗传变异的可能性。
Chromophobe renal cell carcinoma (RCC) accounts for approximately 5% of renal epithelial neoplasms. Multiple and/or bilateral chromophobe RCCs in an individual are generally rare but frequently occur in patients with Birt–Hogg–Dubé syndrome (BHDS) and in patients with tuberous sclerosis complex (TSC). The responsible genes in both BHDS and TSC act as tumor suppressors. Therefore, it seems that some genetic backgrounds are required for the generation and progression of multiple chromophobe RCCs. Here, we report a case of multiple and bilateral chromophobe 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 RCCs and ‘capsulomas’ developing in a patient without genetic features, having potential for novel genetic variation.