重庆地区非小细胞肺癌表皮生长因子受体突变检测与临床病理特征分析

目的探讨重庆市地区非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）突变状态及其与临床病理特征的关系。方法收集55例NSCLC患者的癌组织或胸水标本，采用扩增阻滞突变系统（ARMS）检测EGFR外显子18、19、20和21突变状态。结果55例患者中，EGFR突变14例，突变率25．45％；其中，男、女突变率分别为12．50％、43．48％（P=0．013）；吸烟、不吸烟患者突变率分别为11．11％、39．29％（P=0．017）；外显子19突变8例（57．14％，8／14），外显子21突变5例（35．71％，5／14），外显子18、20同时突变1例（7．15％，1／14）。结论在重庆市地区NSCLC患者中，女性、非吸烟者EGFR突变率较高，EGFR基因突变以外显子19和21为主。

Detection of epidermal growth factor receptor gene mutation and clinicopathological characteristics of patients with non-small cell lung cancer in Chongqing Municipality

Objective To investigate the mutation status of epidermal growth factor receptor and clinicopathological characteristics of patients with non-small cell lung cancer （NSCLC） in Chongqing Municipality. Methods Clinical specimens from 55 NSCLC patients were analyzed for epidermal growth factor receptor（EGFR） mutations in exons 18, 19, 20 and 21 using amplificationrefractory mutation system（ARMS） following genomic DNA extraction from paraffin-embedded tissue or malignant pleural effusion. Results sensitive EGFR mutations were detected in 14 patient samong 55 patients（25.45% ）. The mutation rate in male and female was 12.50%, 43.48% respectively（ P = 0. 013 ）. Smoking, non-smoking patients mutation rate was 11.11% and 39.29% respectively （P =0.017）. Mutation rate in exon 19, 21 was 57.14% （8/14）, 35.71% （5/14）; only 1 specimen was detected EGFR mutation both in exon 18 and 20（7. 15%, 1/14）. Conclusions EGFR mutations rate are significantly higher in female, non-smoking NSCLC patients from Chongqing Municipality, and the most common EGFR mutations are deletions in exon 19 and the L858R substitution in exon 21, Consistent with the previously reports.