摘要目的 探讨非小细胞肺癌(NSCLC)中EML4-ALK融合基因的存在情况及其与患者临床病理特征的关系.方法 采用特异引物即时荧光PCR法对268例收集于2007年1月至2012年4月间的NSCLC手术切除标本进行EML4-ALK融合基因检测,应用Sanger测序法对其中164例进行验证,并结合临床病理资料分析EML4-ALK融合基因存在情况与患者临床病理特征的关系.结果 在268例NSCLC中,有11例存在EML4-ALK融合基因(4.1％).其中女性EML4-ALK融合基因阳性率(5.9％,5/85)高于男性(3.3％,6/183),两者差异无统计学意义(P=0.503)；年龄≤60岁者的EML4-ALK融合基因阳性率(4.3％,6/140)略高于＞60岁者(4.0％,5/124),两者差异无统计学意义(P=0.918)；非吸烟者的EML4-ALK融合基因阳性率(6.8％,8/118)高于吸烟者(1.6％,2/123),两者差异无统计学意义(P =0.092)；腺癌患者EML4-ALK融合基因阳性率(7.6％,10/132)高于鳞癌患者(1.3％,1/79),两者差异无统计学意义(P=0.094).抽取164例进行Sanger测序验证,其EML4-ALK阳性检出率与即时荧光PCR法结果一致,两种方法的总体符合率为100％.结论 EML4-ALK融合基因在女性、非吸烟、腺癌患者中较为多见,代表了一类新的NSCLC亚型.

abstractsObjective To investigate the frequency of EML4-ALK fusion gene in non-small-cell lung cancer (NSCLC) patients,and its correlation with clinicopathologic features.Methods Real-time PCR was used to detect the presence of EML4-ALK fusion gene in 268 cases of NSCLCs using paraffinembedded tissue samples (among which 164 samples were re-validated by Sanger sequencing).Related clinicopathological correlation was analyzed.Results EML4-ALK fusion gene was found in 4.1％(11/268) of the cases.One hundred and sixty four samples were verified by Sanger sequencing,and the overall coincidence of the results of two methods (Sanger sequencing and Real-time PCR) was 100％.Female patients (5.9％,5/85),≤60 years of age (4.3％,6/140),non-smokers (6.8％,8/118) and adenocarcinomas (7.6％,10/132) had a higher mutation rate than that in male patients (3.3％,6/183),＞60 years of age (4.0％,5/124),smokers (1.6％,2/132) and squamous cell carcinomas (1.3％,1/79),although no statistical significance in age (P =0.918),gender(P =0.503),smoking history (P =0.092) and histological type (P =0.094).Conclusions Chinese NSCLC patients have a 4.1％detection rate of EML4-ALK fusion gene in the tumor tissues.Female,non-smoker and adenocarcinoma histological subtype tend to be associated with a higher rate of EML4-ALK gene fusion.