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目的针对晚期肺腺癌肿瘤组织标本与血浆标本表皮生长因子受体(EGFR)基因突变检测,了解EGFR基因检测结果对临床治疗的影响。方法前瞻性收集160例晚期肺腺癌患者肿瘤组织标本和血浆标本,采用扩增受阻突变系统(ARMS)法检测EGFR基因突变状态。结果肺腺癌组织标本中,EGFR基因突变率为50.6%,单突变78例(其中19del 42例,L858R 36例),双突变3例。血浆标本中,EGFR基因突变率为31.2%,单突变49例(其中19del 25例,L858R 23例,G719x 1例),双突变1例。ARMS法检测结果显示,两种标本均检测到突变者47例,均无突变者76例。组织标本检测到突变而血浆标本未检测到突变的有34例,反之有3例。两者检测一致率为76.9%,血浆EGFR检测的敏感性为58.0%,特异性为96.2%,阳性预测值为94.0%,阴性预测值为69.1%。结论晚期肺腺癌中EGFR基因突变肿瘤组织标本的检出率高于血浆标本,ARMS法血浆标本EGFR基因突变阳性结果可信性高,但突变阴性结果可靠性不高,对无法取得组织活检的患者血浆检测可作为补充手段。
Objective To detect EGFR gene mutations in advanced lung adenocarcinoma tissue samples and plasma samples and investigate the effect of EGFR gene test on clinical treatment. Methods Tumor samples and plasma samples from 160 patients with advanced lung adenocarcinoma were prospectively collected. The mutation status of EGFR gene was detected by ARMS. Results The mutation rate of EGFR gene in lung adenocarcinoma tissue was 50.6%. There were 78 single mutations (including 42 cases of 19del and 36 cases of L858R) and 3 cases of double mutation. In plasma samples, the mutation rate of EGFR gene was 31.2%, single mutation 49 cases (19del 25 cases, L858R 23 cases, G719x case 1 case) and double mutation 1 case. ARMS method test results showed that both samples were detected in 47 cases of mutation, no mutation in 76 cases. Tissue samples detected mutations in plasma samples did not detect mutations in 34 cases, while the other 3 cases. The consistency between the two was 76.9%, the sensitivity of plasma EGFR was 58.0%, the specificity was 96.2%, the positive predictive value was 94.0% and the negative predictive value was 69.1%. Conclusions The detection rate of EGFR gene mutations in advanced lung adenocarcinoma is higher than that of plasma samples. The EGFR gene mutation in plasma samples from ARMS is highly reliable, but the reliability of mutation negative results is not high. Patient plasma testing can be used as a supplement.