肾细胞癌的分子遗传学改变研究进展  

Research Progress on Molecular Genetic Alterations of Renal Cell Carcinoma

作　　者：王杰 席志军[1] WANG Jie;XI Zhijun(Department of Urology, Peking University First Hospital, Beijing 100034, China)

机构地区：[1]北京大学第一医院泌尿外科,北京100034

出　　处：《肿瘤防治研究》2018年第4期258-262,共5页Cancer Research on Prevention and Treatment

摘　　要：肾细胞癌(RCC)是肾癌最重要的一种病理分型,其中又以透明细胞性肾细胞癌(cc RCC)最常见,其次是乳头状肾细胞癌(PRCC)和嫌色性肾细胞癌(Ch RCC)。随着二代测序技术的普遍运用,关于cc RCC中VHL、PBRM1等常见突变基因以及3p缺失等拷贝数变异(CNV)的研究越来越多;另外,PRCC和Ch RCC中的基因突变和CNV研究也不断出现。本文将对cc RCC、PRCC和Ch RCC等几种常见RCC的基因突变、CNV和基因融合等分子遗传学改变研究进展作一综述。Renal cell carcinoma（RCC） is the most important pathological type of renal carcinoma. Among all the RCC, clear cell renal cell carcinoma（cc RCC） is the most common type, followed by papillary renal cell carcinoma（PRCC） and chromophobe renal cell carcinoma（Ch RCC）. With the widespread use of the next generation sequencing（NGS）, more and more studies concerning commonly mutated genes such as VHL, PBRM1, etc. and copy number variation（CNV） including loss of chromosome 3p have now emerged in cc RCC. Researches involving mutations and CNV are also common in PRCC and Ch RCC. This paper mainly reviews the molecular genetic alterations of several common RCC including gene mutation, CNV, gene fusion, etc.

关 键 词：肾细胞癌 透明细胞性肾细胞癌 乳头状肾细胞癌 嫌色性肾细胞癌 基因突变 拷贝数变异 

分 类 号：R737.11[医药卫生—肿瘤]