金华地区非小细胞肺癌基因突变情况回顾性研究

The retrospective study on gene mutation of non-smalt cell lung cancer in Jinhua

目的观察金华地区111例非小细胞肺癌的基因突变情况,统计美国国家综合癌症网络(NCCN)指南推荐用药及耐药最相关的10个基因。方法采用二代测序方法进行检测。结果在84例腺癌(88.42%)和14例鳞癌(87.5%)中检出了基因突变。EGFR的突变频率最高,67例(60.36%)患者中检出突变,次之为KRAS突变12例(10.81%),其他基因也均有突变检出。检测到的突变类型包括点突变、短的插入缺失、基因融合。检出多突变的患者有17例,其中双突变13例,三突变4例。结论金华地区的肺癌患者基因突变频率与国内已经报道的人群数据相似,利用二代测序方法进行基因检测可有效指导临床用药。

Objective To observe the gene mutation of non-small cell lung cancer in Jinhua area,the included 10 genes were recommended by NCCN guidelines and driver gene in lung cancer.Methods Cancer tsses from 95 cases of adenocarcinoma and 16 cases of squamous cell carcinoma were examined by second-generation sequencing.Results Mutations were detected in 84 lung adenocarcinomas and 14 lung squamous cell carcinomas.The gene mutation rate of EGFR gene was the highest(60.36%).The detected gene mutations included SNP,InDEL and fusion.There were 17 patients with more than 1 mutations,included 13 patients with two mutations and 4 patients with three mutations.Conclusion The frequency of gene mutation in patients with lung cancer in jinhua area is similar to that in other areas in China.It is very mature to use the second-generation sequencing method to detect the mutations of lung cancer.