可能的错误结果与cobas® EGFR突变测试v2和对EGFR突变的Oncomine Dx目标测试
Kensuke Kanaoka1, Akihiro Tamiya1, Yuji Inagaki1
1Department of Internal Medicine, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Japan.
Anticancer research
|May 29, 2023
概括
这项研究发现,cobas® EGFR 测试可能会对非小细胞肺癌 (NSCLC) 中的外显子20插入突变产生假阳性. 康胺Dx标测试 (ODxTT) 可能会对常见的EGFR突变产生错误的阴性结果,例如外体19删除和L858R.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断学
背景情况:
- 在下一代测序 (NGS) 多重面板和单基因测试之间存在差异,用于检测非小细胞肺癌 (NSCLC) 中的表皮生长因子受体 (EGFR) 突变.
- 在EGFR突变测试结果中存在这些差异的原因在很大程度上仍未被探索.
研究的目的:
- 为了调查cobas® EGFR突变测试v2 (cobas® EGFR) 和Oncomine Dx目标测试 (ODxTT) 的潜在错误结果.
- 为了确定这两个共同的诊断平台之间的EGFR突变检测差异的原因.
主要方法:
- 从2021年4月到2022年5月的非小细胞肺癌 (NSCLC) 患者数据的回顾性审查.
- 对与cobas® EGFR和Oncomine Dx目标测试 (ODxTT) 同时测试的样本的分析.
- 详细检查不一致的EGFR突变分析结果.
主要成果:
- 在116个分析样本中,有6个样本显示了两种测试之间不一致的EGFR突变结果.
- cobas® EGFR检测到4个被ODxTT没有发现的20个外显子插入突变;碎片分析证实这些是错误的阳性.
- ODxTT为19号外因子删除和L858R突变提供了一个虚假阴性结果,为19号外因子删除确定了附近的单核酸变异.
结论:
- cobas® EGFR 测试可能会产生对EGFR外显子20插入突变的错误阳性结果.
- 康胺Dx标测试 (ODxTT) 可能产生常见EGFR突变的错误阴性结果,包括19号外基因删除和L858R.
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