非小细胞肺癌表皮生长因子受体和ALK基因检测及其与临床病理特征的相关性  

Detection of EGFR and ALK genes in non small cell lung cancer and correlation with clinicopathological features

作　　者：陈琳[1] 郭华[1] 孙亚丽[1] 徐瑞 CHEN Lin;GUO Hua;SUN Yali;XU Rui(Department of Pathology,Shaanxi Provincial People′sHospital,Xi′an 710068,China)

机构地区：[1]陕西省人民医院病理科,西安710068 [2]陕西省肿瘤医院内科一病区,西安710061

出　　处：《实用医学杂志》2019年第11期1739-1743,共5页The Journal of Practical Medicine

基　　金：陕西省自然科学基础研究计划面上项目(编号:2016JM8149)

摘　　要：目的分析非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变及EML4-ALK融合基因检测情况与临床病理特征的相关性,探讨其EGFR基因及EML4-ALK融合基因突变的意义。方法通过扩增阻滞突变系统(ARMS-PCR法)和RT-PCR法对216例NSCLC样本中EGFR基因及EML4-ALK融合基因进行检测。结果本研究中,EGFR基因突变率为40.7%,且多见于女性、不吸烟人群、腺癌患者及有胸膜转移者,与患者年龄、分化程度、是否有区域淋巴结转移无明显相关;多因素Logistic回归分析显示吸烟史和病理类型是EGFR突变的独立影响因素,即EGFR基因突变更易发生于不吸烟人群及腺癌患者;EML4-ALK融合基因突变率为6.1%,其表达状况与年龄、性别、吸烟史、肿瘤病理类型、分化程度等临床病理特征无明显相关。结论 NSCLC患者中EGFR基因突变率高于EML4-ALK融合基因突变率,EGFR基因突变在女性、不吸烟人群、腺癌患者及有胸膜转移者中较高,其中吸烟史和病理类型是EGFR突变的独立影响因素。Objective To analyze the correlation of EGFR gene mutation and EML4-ALK fusion gene detection with clinicopathological features in patients with non small cell lung cancer(NSCLC),and to explore the significance of EGFR gene and EML4-ALK fusion gene mutation in patients with NSCLC. Methods EGFR gene and EML4-ALK fusion gene in 216 NSCLC samples were detected by Amplification Refractory Mutation System(ARMS-PCR)and RT-PCR method. Results Mutation rate of EGFR gene was 40.7%,and it was more common in women,non-smokers,adenocarcinoma patients and patients with pleural metastasis. There was no significant correlation between EGFR gene mutation and age,differentiation and regional lymph node metastasis. Multivariate logistic regression analysis showed that smoking history and pathological type were the independent influencing factors of EGFR mutation. The mutation of EGFR gene was more likely to occur in non-smokers and patients with adenocarcinoma. Mutation rate of EGFR fusion gene was 6.1%. The expression of EML4-ALK was not correlated with age,sex,smoking history,pathological type of tumor and degree of differentiation. Conclusion Mutation rate of EGFR gene in patients with NSCLC is higher than that of EML4-ALK fusion gene and it is higher in women,non-smokers,adenocarcinoma patients and patients with pleural metastasis. Smoking history and pathological type are independent influencing factors of EGFR mutation.

关 键 词：非小细胞肺癌 表皮生长因子受体 基因突变 ALK融合基因 临床病理特征 

分 类 号：R734.2[医药卫生—肿瘤]