非小细胞肺癌EGFR基因突变与EML4-ALK融合基因的表达及其临床病理特征  

EGFR Mutation and Expression of EML4-ALK Fusion Gene in Non-small Cell Lung Cancer and Their Clinicopathological Characteristics

作　　者：吴菡 孙苏安[1] 刘海燕[1] 刘文杰 黄建 WU Han;SUN Suan;LIU Haiyan;LIU Wenjie;HUANG Jian(Department of Pathology,Huai′an First People′s Hospital Affiliated to Nanjing Medical University,Huai′an,223300)

机构地区：[1]南京医科大学附属淮安第一医院病理科,江苏淮安223300

出　　处：《实用医学杂志》2018年第13期2119-2122,共4页The Journal of Practical Medicine

摘　　要：目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)、动物微管相关蛋白4-间变性淋巴瘤激酶(EML4-ALK)融合基因表达及其临床病理特征。方法收集病理确诊的NSCLC患者213例,采用扩增阻滞突变系统(ARMS)检测EGFR基因的突变状态,RT-PCR法检测EML4-ALK融合基因表达情况,分析突变与临床病理特征的关系。结果 EGFR基因突变率为25.35%,女性、腺癌、非吸烟患者突变率显著较高(P<0.05)。EML4-ALK融合基因表达率为2.82%,女性、腺癌、60岁以下非吸烟人群突变率显著较高(P<0.05)。未发现两个基因共同突变的病例。结论 NSCLC患者存在EGFR基因、EML4-ALK融合基因突变,均以女性、腺癌、非吸烟者表达较高。Objective To investigate expressions of epidermal growth factor receptor(EGFR)and the fusion gene of animal microtubule-associated protein 4-anaplastic lymphoma kinase(EML4-ALK)in non-small cell lung cancer(NSCLC).Methods A total of 213 confirmed patients with NSCLC were collected,and the status of EGFR mutation was detected by the Amplification Refractory Mutation System(ARMS)and expression of EML4-ALK fusion gene was detected by RT-PCR.The relationship between genes mutations and clinicopathological features of NSCLC was analyzed.Results The total mutation rate of EGFR gene was 25.35%,and the female,adenocarcinoma and non-smoking patients had higher EGFR mutations(P<0.05).The expression rate of EML4-ALK fusion gene was 2.82%,and EML4-ALK fusion gene usually occurred in female,adenocarcinoma,and non-smoking patients under 60 years of age(P<0.05).The coexist between EGFR and EML4-ALK gene mutations was not detected.Conclusions Mutations of EGFR gene as well as EML4-ALK fusion gene may occur in NSCLC patients,which are frequently found in female,adenocarcinoma and non-smoking patients.

关 键 词：非小细胞肺癌 表皮生长因子受体 棘皮动物微管相关蛋白4-间变性淋巴瘤激酶 病理特征 

分 类 号：R734.2[医药卫生—肿瘤]