摘要目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)基因突变检测技术及其临床意义。方法采用聚合酶链反应(PCR)扩增DNA直接测序法检测192例NSCLC的EGFR基因第18 ～21号外显子突变情况，并结合临床病理指标分析其意义。结果192例非小细胞肺癌中64例存在EGFR酪氨酸激酶结合域的基因突变(33.3％)，其中第19号外显子缺失突变率为60.9％( 39/64)，第21号外显子替代突变率为39.1％ (25/64)，第18和20号外显子未发现突变。在伴有细支气管肺泡癌分化特征的肺腺癌中EGFR基因突变率为58.5％( 24/41)，显著高于普通腺癌(37.9％，33/87)、鳞癌(7.5％，4/53)、大细胞癌(1/5)和腺鳞癌(2/6)，P＜0.05；女性(51.9％，40/77)显著高于男性(20.9％,24/115)，P＜0.01；不吸烟者(50.0％,57/114)显著高于吸烟者(9.0％，7/78)，P＜0.01。结论PCR扩增DNA直接测序法检测NSCLC的EGFR基因突变技术稳定、可靠，为临床开展NSCLC靶向治疗提供了依据。

abstractsObjective To investigate the detection technology and its clinical significance of the EGFR gene mutation in non-small cell lung cancer. Methods DNA direct sequencing methods by PCR amplification were used to detect EGFR gene exons 18-21 mutation and to analyze its clinical pathological significance in 192 patients with non-small cell lung cancer. Results 64 of the 192 cases presented with EGFR gene tyrosine kinase binding domain mutation (64/192, 33.3％ ), of which exon 19 deletion mutation rate was 60.9％ (39/64), exon 21 alternative mutation rate was 39.1％ (25/64), but exons 18 and 20 mutation was not found in this group of patients. EGFR gene mutation rate was 58.5％ (24/41) in lung adenocarcinoma associated with bronchioloalveolar carcinoma differentiation, which was significantly higher than that of ordinary adenocarcinoma (37.9％, 33/87 ), squamous cell carcinoma (7.5％ , 4/53 ),large cell carcinoma (1/5) and adenosquamous carcinoma (2/6,P ＜ 0.05 ). EGFR gene mutation rates in male patients ( 20.9％, 24/115 ), were significantly higher than in the females ( 51.9％, 40/77 ;P ＜ 0.01 ) ; non-smokers ( 50.0％, 57/114 ), significantly higher than that of smokers ( 9.0％, 7/78 ;P ＜0.01 ). Conclusions DNA direct sequencing method by PCR amplification is stable and reliable in detection of EGFR gene mutation in non-small cell lung cancer. It might provide a scientific basis for targeted therapy.