应用ARMS-PNA技术检测晚期肺腺癌患者血浆中EGFR基因突变

发布时间：2019-07-30 11:11

【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。
[Abstract]:Objective to detect the mutation of epidermis growth factor receptor (EGFR) gene in plasma and tissue / malignant pleural effusions from patients with lung cancer, and to explore the value of plasma samples in the detection of EGFR gene. Methods the tissue / malignant pleural effusions and their corresponding plasma samples from 200 patients with stage III / IV lung cancer were collected and the mutation of EGFR gene was detected by amplification blocked mutation system combined with peptide nucleic acid (amplification refractory mutation system-peptide nucleic acids,ARMS-PNA). Results the positive rate of EGFR gene in tissue / malignant pleural effusion samples (46.00%) was significantly higher than that in plasma samples (33.00%), and the sensitivity, specificity and total coincidence rate of plasma EGFR gene mutation detection were 41.73%, 100.00% and 87.00%, respectively. The sensitivity of plasma EGFR gene mutation detection in patients with stage IV lung cancer (76.92%) was significantly higher than that in stage III (65.00%). Conclusion compared with advanced lung cancer tissue / malignant pleural effusions, plasma EGFR mutation detection has high specificity, but the sensitivity is relatively low. When tumor tissue / malignant pleural effusions are difficult to obtain, plasma can be used as a suitable sample for EGFR gene mutation detection.
【作者单位】：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;
【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)
【分类号】：R734.2

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