摘要目的 验证针对表皮生长因子受体(EGFR)基因经典突变——19delE746-A750/21L858R的特异性抗体敏感度和特异度,从而探讨应用免疫组织化学检测EGFR基因突变的临床意义.方法应用免疫组织化学方法(EnVision二步法)、Q评分体系及ROC曲线检测309例肺腺癌标准EGFR基因突变状态,并与聚合酶链反应(PCR)-DNA测序结果做比较,评价delEGFR和L858R两种特异性抗体检测EGFR基因突变状态的诊断价值.结果 经过PCR-DNA直接测序的肺腺癌标本中,92例为外显子19delE746-A750突变,110例为外显子21L858R点突变.用delEGFR抗体检测外显子19delE746-A750突变的敏感度为84.8％(78/92),特异度为77.6％(83/107),ROC曲线下面积为0.885,最佳分界值为85.00；用L858R抗体检测外显子21L858R点突变的敏感度为94.5％(104/110),特异度为62.5％ (55/88),ROC曲线下面积为0.924,最佳分界值为97.50.结论delEGFR和L858R两种EGFR突变特异性抗体可用于检测EGFR基因的突变状态,并且结果判读使用Q评分及ROC曲线评价检测结果有较好的临床应用价值.

abstractsObjective To examine the sensitivity and specificity of the two epidermal growth factor receptor hotspot mutation antibodies-delE746-A750 and L858R in lung adenocarcinoma,and to discuss the value of the two antibodies for detecting these two “classic mutations” by immunohistochemistry.Methods With Q-scoring assessment and ROC curve analysis,immunohistochemistry was used to screen a panel of 309 paraffin-embedded non-small cell lung cancer (NSCLC) tumor samples,of which EGFR gene mutational status was previously documented by PCR-DNA sequencing.Results Three hundred and nine NSCLC tumor samples conclude 92 NSCLC cases with 19delE746-A750 and 110 with 21L858R.Using DelEGFR antibody to detect 19delE746-A750 demonstrated sensitivity and specificity of 84.8％ (78/92) and 77.6％ (83/107),respectively.Choosing the best cut-off value of 85.00,it achieved the maximum area under the curve (AUC:0.885).L858R antibody to detect 21L858R showed sensitivity and specificity of 94.5％ (104/110) and 62.5％ (55/88),respectively.Choosing the best cut-off value of 97.50,it achieved the maximum area under the curve (AUC:0.924).Conclusion By using Q-scoring assessment and ROC curve analysis,the two antibodies (delEGFR and L858R) can been used to identify EGFR gene mutations present in lung adenocarcinomas.