An evaluation study of EGFR mutation tests utilized for non-small-cell lung cancer in the diagnostic setting
An evaluation study of EGFR mutation tests utilized for non-small-cell lung cancer in the diagnostic setting
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DOI：
10.1093/annonc/mds121
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发表时间：
2012-11-01
影响因子：
50.5
通讯作者：
Todo, T.
中科院分区：
文献类型：
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作者：
Goto, K.;Satouchi, M.;Todo, T.
表皮生长因子受体（EGFR）突变可预测EGFR酪氨酸激酶抑制剂治疗晚期非小细胞肺癌（NSCLC）的疗效。我们评估了5种EGFR检测的性能、灵敏度和一致性。分析了DNA混合物（n = 34; 1%-50%突变质粒DNA）和NSCLC患者的样本[116例福尔马林固定石蜡包埋（FFPE）组织，29例匹配的支气管纤维镜刷检（BB）细胞学检查和20例额外的胸腔积液（PE）细胞学检查样本]。EGFR突变检测是PCR-Invader（R）、肽核酸锁核酸PCR钳、直接测序、Cycleave（TM）和Scorpion扩增难治突变系统（ARMS）（R）。分析成功率、突变状态和一致率进行了评估。除了直接测序，所有检测在>= 1%的突变DNA中检测到四种突变类型。分析成功率分别为91.4%-100%（FFPE）和100%（BB和PE细胞学）。成功分析样品的批间一致率为94.3%~ 100%（FFPE; kappa系数：0.88-1.00），93.1%-100%（BB细胞学：0.86-1.00），85.0%-100%（PE细胞学; BB细胞学和FFPE的阳性率分别为0.70-1.00和93.1%~ 96.6%（0.86-0.93）。细胞学来源的DNA是FFPE样本用于分析EGFR突变的可行替代方案。
Epidermal growth factor receptor (EGFR) mutation is predictive for the efficacy of EGFR tyrosine kinase inhibitors in advanced non-small-cell lung cancer (NSCLC) treatment. We evaluated the performance, sensitivity, and concordance between five EGFR tests.DNA admixtures (n = 34; 1%-50% mutant plasmid DNA) and samples from NSCLC patients [116 formalin-fixed paraffin-embedded (FFPE) tissue, 29 matched bronchofiberscopic brushing (BB) cytology, and 20 additional pleural effusion (PE) cytology samples] were analyzed. EGFR mutation tests were PCR-Invader (R), peptide nucleic acid-locked nucleic acid PCR clamp, direct sequencing, Cycleave (TM), and Scorpion Amplification Refractory Mutation System (ARMS)(R). Analysis success, mutation status, and concordance rates were assessed.All tests except direct sequencing detected four mutation types at >= 1% mutant DNA. Analysis success rates were 91.4%-100% (FFPE) and 100% (BB and PE cytology), respectively. Inter-assay concordance rates of successfully analyzed samples were 94.3%-100% (FFPE; kappa coefficients: 0.88-1.00), 93.1%-100% (BB cytology; 0.86-1.00), and 85.0%-100% (PE cytology; 0.70-1.00), and 93.1%-96.6% (0.86-0.93) between BB cytology and matched FFPE.All EGFR assays carried out comparably in the analysis of FFPE and cytology samples. Cytology-derived DNA is a viable alternative to FFPE samples for analyzing EGFR mutations.