【摘要】：目的檢測肺腺癌患者的血漿和組織/惡性胸腔積液樣本中表皮生長因子受體(EGFR)基因突變情況,探討血漿樣本在EGFR基因檢測中的應(yīng)用價值。方法收集200例Ⅲ/Ⅳ期肺腺癌患者的組織/惡性胸腔積液及其相對應(yīng)的血漿樣本,利用擴增受阻突變體系聯(lián)合肽核酸(amplification refractory mutation system-peptide nucleic acids,ARMS-PNA)技術(shù)檢測EGFR基因突變情況。結(jié)果組織/惡性胸腔積液樣本中EGFR基因的陽性率(46.00%)明顯高于血漿樣本(33.00%),兩者之間差異具有統(tǒng)計學(xué)意義;與組織/惡性胸腔積液樣本相比,血漿EGFR基因突變檢測的靈敏度為71.73%,特異度為100.00%,總符合率為87.00%;Ⅳ期肺腺癌患者的血漿EGFR基因突變檢測靈敏度(76.92%)明顯高于Ⅲ期(65.00%)。結(jié)論與晚期肺腺癌組織/惡性胸腔積液相比,血漿EGFR突變檢測具有高度的特異度,但靈敏度相對較低。當(dāng)腫瘤組織/惡性胸腔積液難以獲取時,血漿可以作為EGFR基因突變檢測的合適樣本。
[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.
【作者單位】： 安徽呼吸系病臨床基礎(chǔ)省級實驗室蚌埠醫(yī)學(xué)院第一附屬醫(yī)院呼吸與危重癥醫(yī)學(xué)科;
【基金】：安徽省科技攻關(guān)計劃資助項目(No.12010402127) 高校優(yōu)秀青年人才支持計劃重點項目(No.gxyqZD2016168) 安徽省科技計劃項目(重點實驗室類)(No.1506c085014)
【分類號】：R734.2

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