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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 被引量:14

EGFR Mutation and Expression of EML4-ALK Fusion Gene in Non-small Cell Lung Cancer and Their Clinicopathological Characteristics
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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.
作者 吴菡 孙苏安 刘海燕 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)
出处 《实用医学杂志》 CAS 北大核心 2018年第13期2119-2122,共4页 The Journal of Practical Medicine
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 non-small cell lung cancer epidermal growth factor receptor animal microtubule-associ-ated protein 4-anaplastic lymphoma kinase clinicopathological features
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