应用ARMS-PNA技术检测晚期肺腺癌患者血浆中EGFR基因突变  

Detection of EGFR Gene Mutations in Plasma from Advanced Lung Adenocarcinoma Patients by ARMS-PNA Method

作　　者：闵生萍[1] 刘安[1] 洪磊[1] 王效静[1] Min Shengping Liu An Hong Lei et al(Anhui Clinical and Preclinical Key Laboratory of Respiratory Disease Department of Respiratory and Critical Medicine, First Affiliated Hospital, Bengbu Medical College, Bengbu 23300)

机构地区：[1]安徽呼吸系病临床基础省级实验室,蚌埠医学院第一附属医院呼吸与危重症医学科,蚌埠233000

出　　处：《华中科技大学学报（医学版）》2016年第6期661-664,669,共5页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：安徽省科技攻关计划资助项目(No.12010402127);高校优秀青年人才支持计划重点项目(No.gxyqZD2016168);安徽省科技计划项目(重点实验室类)(No.1506c085014)

摘　　要：目的检测肺腺癌患者的血浆和组织/恶性胸腔积液样本中表皮生长因子受体(EGFR)基因突变情况,探讨血浆样本在EGFR基因检测中的应用价值。方法收集200例Ⅲ/Ⅳ期肺腺癌患者的组织/恶性胸腔积液及其相对应的血浆样本,利用扩增受阻突变体系联合肽核酸(amplification refractory mutation system-peptide nucleic acids,ARMS-PNA)技术检测EGFR基因突变情况。结果组织/恶性胸腔积液样本中EGFR基因的阳性率(46.00%)明显高于血浆样本(33.00%),两者之间差异具有统计学意义;与组织/恶性胸腔积液样本相比,血浆EGFR基因突变检测的灵敏度为71.73%,特异度为100.00%,总符合率为87.00%;Ⅳ期肺腺癌患者的血浆EGFR基因突变检测灵敏度(76.92%)明显高于Ⅲ期(65.00%)。结论与晚期肺腺癌组织/恶性胸腔积液相比,血浆EGFR突变检测具有高度的特异度,但灵敏度相对较低。当肿瘤组织/恶性胸腔积液难以获取时,血浆可以作为EGFR基因突变检测的合适样本。Objective To detect epithelial growth factor receptor（EGFR）gene mutations in tissue/malignant pleural effusion and its matched plasma from advanced lung adenocarcinoma patients,and then to evaluate the application value of detection of EGFR mutations in plasma.Methods Tissue/malignant pleural effusion and its matched plasma were collected from 200 lung adenocarcinoma patients at stageⅢ/Ⅳ,and the mutations of EGFR gene were detected by using amplification refractory mutation system-peptide nucleic acids（ARMS-PNA）method.Results The positive rate of EGFR mutations in tissue/malignant pleural effusion was 46.00%,significantly higher than that in plasma（33.00%）.Compared with tissue/malignant pleural effusion,the sensitivity of detection of EGFR mutations in plasma was 71.73%,the specificity was 100.00%,and the total corresponding rate was 87.00%.Notably,the sensitivity of detection of EGFR mutations in plasma from lung carcinoma patients at stageⅣ（76.92%）was higher than that at stageⅢ（65.00%）.Conclusion Compared with tissue/malignant pleural effusion from advanced lung adenocarcinoma,plasma sample used for detection of EGFR mutations has high specificity,but low sensitivity.If it is hard to get tissue/malignant pleural effusion,plasma could serve as an adaptable sample for detection of EGFR mutations in advanced lung adenocarcinoma.

关 键 词：表皮生长因子受体 肺腺癌 血浆 ARMS-PNA技术 

分 类 号：R734.2[医药卫生—肿瘤]