非小细胞肺癌患者EML4-ALK和EGFR共存突变的检测及其与临床病理特征的关系

目的:检测无锡地区非小细胞肺癌（non-small cell lung cancer,NSCLC）患者EML4-ALK融合基因和EGFR基因突变情况及突变亚型，并探讨其与临床病理特征的关系。方法:整群选取并回顾性分析2015年01月至2017年10月于无锡市人民医院诊治的NSCLC患者病例资料188例，采用实时荧光PCR技术检测EML4-ALK基因和EGFR基因的突变情况，并结合临床资料分析其与临床病理特征的关联。结果:在188例NSCLC患者中，EML4-ALK融合基因阳性率为9.0%。其中，女性阳性率高于男性，差异有统计学意义（14.9% vs 5.8%，P=0.036），但阳性率与年龄（P=0.294）、远处转移（P=0.464）、病理类型（P=0.302）及吸烟史（P=0.096）无显著相关。纳入患者中184例同时完成EGFR突变检测，突变阳性率为39.1%。其中，女性阳性率显著高于男性（65.6% vs 25.0%，P<0.001），腺癌显著高于其他病理类型（P<0.001），无吸烟史患者高于有吸烟史患者（45.3% vs 28.4%，P=0.023），Ⅰ期（P=0.045）和瘤体直径≤5 cm（P=0.020）的患者突变阳性率亦偏高。但EGFR突变阳性率与年龄（P=0.853）、远处转移（P=0.921）无显著相关。184例同时检测EML4-ALK基因和EGFR基因的患者中，有3例为双突变阳性，发生率为1.63%。结论:无锡地区NSCLC的EML4-ALK融合基因、EGFR基因突变、共存突变的阳性率及其与临床病理特征的关系与国内外报道相仿。EML4-ALK融合基因及EGFR基因突变对临床治疗具有重要指导价值，共存突变患者的临床治疗方案仍有待进一步研究提供循证依据。

Detection of co-existing mutation of EML4-ALK and EGFR and its relationship with clinicopathological features in patients with non-small cell lung cancer

Objective:To detect the mutation and subtype of EML4-ALK fusion gene and EGFR gene in non-small cell lung cancer (NSCLC) in Wuxi area，and to explore its relationship with clinicopathological features.Methods:By using group selection and retrospective study method，we review the clinical data of 188 patients with NSCLC who treated in the Wuxi people's hospital between January 2015 and October 2017.The mutation and the specific subtypes were detected by real-time PCR.Clinical data was analyzed to reveal the association of gene mutation with clinical pathological characteristics.Results:In 188 patients with NSCLC，the positive rate of EML4-ALK fusion gene was 9%.Among them，the positive rate of female was higher than that of male，the difference was statistically significant(14.9% vs 5.8%，P=0.036)，but the positive rate was not related to age (P=0.294)，distant metastasis (P=0.464)，pathological type (P=0.302) and smoking history (P=0.096).A total of 184 cases's EGFR mutation status were successfully detected，and the positive rate was 39.1%.Among them，the positive rate of female were higher than male (65.6% vs 25%，P<0.001)，adenocarcinoma was significantly higher than other pathological types (P<0.001)，and no smoking history patients was higher than those with smoking history (45.3% vs 28.4%，P=0.023).The positive rate of stage I patients (P=0.045) and those whose tumor size was less than or equal to 5 cm (P=0.020) was higher than others.But the positive rate was not correlated to the age (P=0.853) and distant metastasis (P=0.921).Of the 184 cases of simultaneous detection of EML4-ALK gene and EGFR gene，3 cases were double mutation positive，and the incidence was 1.63%.Conclusion:The positive rate of EML4-ALK fusion gene，EGFR gene mutation，coexistence mutation and its relationship with clinicopathological characteristics of NSCLC in Wuxi area are similar to those reported previously.The mutation of EML4-ALK fusion gene and EGFR gene has important guiding value for clinical treatment.The clinical treatment plan of coexisting mutation patients still needs further research to provide more evidence.