非小细胞肺癌表皮生长因子受体基因突变检测及其与临床病理特征的相关性  

Epidermal growth factor receptor gene mutations and clinicopathologic correlation in 309 patients with non-small cell lung cancer

作　　者：冯勤[1] 李向红[1] 陈钊[2] 何京生[1] 王春旭[1] 周立新[1] 薛卫成[1] 

机构地区：[1]北京大学临床肿瘤学院北京肿瘤医院暨北京市肿瘤防治研究所恶性肿瘤发病机制及转化研究教育部重点实验室病理科,100142 [2]清华大学生命科学学院

出　　处：《中华病理学杂志》2011年第10期660-663,共4页Chinese Journal of Pathology

基　　金：北京市卫生系统高层次卫生技术人才培养计划项目（2011）

摘　　要：目的探讨中国非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）基因突变特点及与临床病理特征的相关性。方法采用优化寡核苷酸探针聚合酶链反应（PCR）法检测309例甲醛固定、石蜡包埋NSCLC组织中EGFR基因第18 ～21号外显子突变情况，分析EGFR突变与临床病理特征的关系。结果受检309例NSCLC样本中，EGFR基因第18、19和21号外显子总突变率为34％（105/309）。男性与女性患者的突变率分别为30.4％ （56/128）和39.2％ （49/125）。年龄≤60岁、无吸烟史、腺癌患者的突变率较高（P＜0.05），分别为40.5％ （87/215）、40.2％ （51/127）、38.8％ （78/201）。而在鳞癌和大细胞未分化癌中，EGFR基因突变检出率分别为22.2％（ 16/72）和3/14。检出的突变类型包括第18号外显子点突变（5.7％，6/105）、第19号外显子缺失突变（39.0％，41/105）和第21号外显子点突变（55.2％，58/105）。其中第18号外显子整体突变率低，但在鳞癌和腺鳞癌所占突变比例较高。结论在中国人群NSCLC中，EGFR基因突变多见于女性、年龄≤60岁、无吸烟史和腺癌患者。优化寡核苷酸探针PCR法敏感、便捷，可用于EGFR基因突变检测。Objective To investigate the epidermal growth factor receptor （EGFR） gene mutation profile and related clinicopathological features in Chinese patients with non-small cell lung carcinoma （NSCLC）. Methods Optimized oligonucleotide probe method was applied to detect EGFR mutations involving exons 18-21 using formalin fixed paraffin embedded tissue specimens of 309 NSCLC patients. The relationship between EGFR mutations and clinicopathological features were analyzed. Results The overall EGFR mutation rate was 34% （ 105/309 ） in this study cohort. Mutation rates in male and female were 30.4% （56/184） and 39.2% （49/125 ）, respectively. The mutation rate was higher in patients less than 60 years of age, non-smokers and adenocarcinoma subtype than in their counterparts （P 〈 0.05 ）, with the percentage of 40.5% （ 87/215 ）, 40.2% （ 51/127 ）, 38.8% （ 78/201 ）, respectively. The EGFR mutation types included exon 18 G719X mutation （5.7% ,6/105）, exon 19 deletion （39.0% ,41/105） and exon 21 L858R mutation （55.2%, 58/105 ）. In large cell undifferentiated carcinomas and squamous cell carcinomas, EGFR mutation rates were 22.2% （58/105） and 3/14, respectively. The overall mutation rate of exon 18 was low, but the proportion of its mutation was higher in squamous and adenosquamous carcinomas than in adenocarcinomas. Conclusions There is a higher EGFR mutation rate in female, age of less than 60 years, non-smoker and adenocarcinoma among Chinese patients with NSCLC. Optimized oligonucleotide probe method is a sensitive and convenient method for the detection of EGFR mutations.

关 键 词：癌 非小细胞肺 受体 表皮生长因子 聚合酶链反应 

分 类 号：R734.2[医药卫生—肿瘤]