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。
Objective 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.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2011年第10期671-674,共4页
Chinese Journal of Pathology
关键词
癌
非小细胞肺
受体
表皮生长因子
突变
Carcinoma,non-small-cell lung
Receptor,epidermal growth factor
Mutation
