肾细胞癌的分子遗传学改变研究进展-肿瘤防治研究.PDFVIP

258 2018 45 4  Cancer Res Prev Treat,2018,Vol.45,No.4 · · 肿瘤防治研究 年第 卷第 期 doi:10.3971/j.issn.1000-8578.2018.17.1111 ·综  述· 肾细胞癌的分子遗传学改变研究进展 王杰综述，席志军审校 Research Progress on Molecular Genetic Alterations of Renal Cell Carcinoma WANG Jie, XI Zhijun Department of Urology, Peking University First Hospital, Beijing 100034, China Corresponding Author: XI Zhijun, E-mail: xizhijun@ Abstract: Renal cell carcinoma(RCC) is the most important pathological type of renal carcinoma. Among all the RCC, clear cell renal cell carcinoma(ccRCC) is the most common type, followed by papillary renal cell carcinoma(PRCC) and chromophobe renal cell carcinoma(ChRCC). 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 ccRCC. Researches involving mutations and CNV are also common in PRCC and ChRCC. This paper mainly reviews the molecular genetic alterations of several common RCC including gene mutation, CNV, gene fusion, etc. Key words: Renal cell carcinoma; Clear cell renal cell carcinoma; Papillary renal cell carcinoma; Chromophobe renal cell carcinoma; Gene mutation; Copy number variation RCC ccRCC 摘  要：肾细胞癌（ ）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（ ） PRCC ChRCC 最常见，其次是乳头状肾细胞癌（ ）和嫌色性肾细胞癌（ ）。随着二代测序技术的普遍 ccRCC VHL PBRM1 3p CNV 运用，关于 中 、 等常见突变基因以及 缺失等拷贝数变异（ ）的研究越来越 多；另外，PRCC和ChRCC 中的基因突变和CNV研究也不断出现。本文将对ccRCC 、PRCC和ChRCC 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。 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 R737.11 A 中图分类号：