摘要
目的分析宁夏某医院非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变检测结果。方法选择2014年1月至2017年12月在宁夏医科大学总医院住院的NSCLC患者225例进行回顾性分析,用扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)检测EGFR基因突变情况。结果 EGFR基因总突变率50.22%(113/225),最常见突变位点为19外显子19-del及21外显子L858R,突变率分别为21.33%及17.78%,20外显子T790M耐药突变率及20-Ins插入突变(非敏感突变)的突变率分别为3.56%及1.33%;EGFR各外显子双突变共10例;EGFR基因突变率在性别、年龄、民族、季节、标本类型之间差异无统计学意义(P>0.05),在年份、病理类型之间差异有统计学意义(P<0.05)。结论 ARMS-PCR可有效应用于临床病理石蜡标本基因突变检测,EGFR基因在19和21外显子存在较高的突变率,其突变亚型能指导小分子表皮生长因子酪氨酸酶抑制剂(EGFR-TKI)的肿瘤靶向治疗。
Objective To analyze the detection results of epidermal growth factor receptor(EGFR)gene mutation in the patients with non-small cell lung cancer(NSCLC)in a hospital of Ningxia.Methods A total of 225 inpatients with NSCLC in the General Hospital of Ningxia Medical University from 2014 to 2017 were collected and retrospectively analyzed.The EGFR gene mutation was detected by ARMS-PCR.Results The total mutation rate of EGFR gene was 50.22%(113/225).The most common mutation sites were 19 exon 19-del and 21 exon L858 R.The mutation rates were 21.33%and 17.78%,respectively.The mutation rates of exon20 T790 Mdrug resistance and 20-Ins insertion mutation(non-sensitive mutation)were 3.56%and 1.33%,respectively.There were 10 cases of double mutations in each EGFR exon.There was no statistically significant difference in the mutation rate of EGFR gene among the sex,age,ethnicity,season and specimen types(P>0.05).There was the statistically significant difference between the year and pathological type(P<0.05).Conclusion The ARMS-PCR method can be effectively applied to the gene mutation detection of clinical pathological paraffin sample.EGFR gene has high mutation rate in 19 and 21 exons,and its mutation subtype can direct tumor-targeted therapy of micromolecular EGFR-TKI.
作者
师志云
郭雅琪
江海峰
张玉英
赵玥
赵倩颖
何学虎
梁小燕
董洁
贾伟
SHI Zhiyun;GUO Yaqi;JIANG Haifeng;ZHANG Yuying;ZHAO Yue;ZHAO Qianying;HE Xuehu;LIANG Xiaoyan;DONG Jie;JIA Wei(Clinical Laboratory Center,General Hospital of Ningxia Medical University,Yinchuan,Ningxia 750004,China;Ningxia Key Laboratory of Clinical and Pathogenic Microbiology,Yinchuan,Ningxia 750004,China;Department of Pathology,General Hospital of Ningxia Medical University,Yinchuan,Ningxia 750004,China)
出处
《检验医学与临床》
CAS
2020年第10期1324-1327,共4页
Laboratory Medicine and Clinic
基金
宁夏医科大学校级课题一般项目(XM2018090)
宁夏医科大学教育教学改革研究项目(NYJY1861)
宁夏高等学校一流学科建设(宁夏医科大学国内一流建设学科临床医学)资助项目(NXYLXK2017A05)。
关键词
非小细胞肺癌
表皮生长因子受体
基因突变
扩增阻滞突变系统
non-small cell lung cancer
epidermal growth factor receptor
gene mutation
amplification refractory mutation system
作者简介
师志云,女,副主任医师,主要从事临床分子诊断方面的研究;通信作者:贾伟,E-mail:jiawei6365@126.com。
