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

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（ccRCC）最常见，其次是乳头状肾细胞癌（PRCC）和嫌色性肾细胞癌（ChRCC）。随着二代测序技术的普遍运用，关于ccRCC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。

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.