中国肺癌患者EGFR基因的突变研究

目的 观察中国非小细胞肺癌（NSCLC）患者EGFR基因突变情况及其与临床特征、病理间的关系。方法 采用PCR扩增和DNA测序技术分析NSCLC中EGFR基因第19和21号外显子突变情况。结果 75例NSCLC中,有13例（17．3％）酪氨酸激酶域存在体细胞突变,其中7例（9．3％）为发生于第19号外显子的缺失突变,6例（8．0％）为发生于第21号外显子的替代突变。腺癌突变率为38．7％（12／31）,高于支气管肺泡癌（1／10）、腺鳞癌（0／5）、肺母细胞瘤（0／2）、大细胞癌（0／1）和鳞癌（0／26）;女性患者突变率为30．0％,高于男性患者（8．9％）;非吸烟患者突变率为28．2％,高于长期吸烟者（5．6％）。结论在中国NSCLC中,EGFR基因突变率以腺癌、女性及非吸烟者较高。

EGFR gene mutation status among lung cancer patients in China

Objective To investigate EGFR gene mutations in non-small cell lung cancers (NSCLCs)and their correlation with clinicopathologic features and clinical characteristics in Chinese NSCLC patients.Methods To analyse EGFR mutations of exons 19 and 21 in NSCLCs by PCR amplification and sequencing.Results Somatic mutations in TK domain of EGFR were found in 13 cases(17.3%),the majority of mutations were in-frame exon19(9.3%)and 6 cases missense mutation in exon21(8.0%). The mutation rate was significantly higher in adenocarcinoma(12/31,38.7%),than in bronchioloalveolar cancer(1/10,10.0%),adeno-squamous carcinoma(0/5),pulmonary blastoma(0/2),large cell carcinoma(0/1)and squamous cell carcinoma(0/26).Moreover,mutations were more frequently observed in females(30.0%)than in males(8.9%),and significantly higher in non-smokers(28.2%)than in smokers(5.6%).Conclusion EGFR gene mutation is significantly higher related to adenocarcinomas, females and never-smokers.The results may suggest that a lager portion of adenocareinomas in Chinese patients,females and non-smokers could be associated with favorable response to gefinib.