a Department of Public Health , University of Naples Federico II , Naples , Italy.
b Department of Biotechnology , Universitat Politècnica de València , Valencia , Spain.
Expert Rev Mol Diagn. 2017 Mar;17(3):209-215. doi: 10.1080/14737159.2017.1288568. Epub 2017 Feb 9.
The discovery of driver mutations in non-small cell lung cancer (NSCLC) has led to the development of genome-based personalized medicine. Fifteen to 20% of adenocarcinomas harbor an epidermal growth factor receptor (EGFR) activating mutation associated with responses to EGFR tyrosine kinase inhibitors (TKIs). Individual laboratories' expertise and the availability of appropriate equipment are valuable assets in predictive molecular pathology, although the choice of methods should be determined by the nature of the samples to be tested and whether the detection of only well-characterized EGFR mutations or rather, of all detectable mutations, is required. Areas covered: The EGFR mutation testing landscape is manifold and includes both screening and targeted methods, each with their own pros and cons. Here we review one of these companion tests, the Roche cobas® EGFR mutation test v2, from a methodological point of view, also exploring its liquid-biopsy applications. Expert commentary: The Roche cobas® EGFR mutation test v2, based on real time RT-PCR, is a reliable option for testing EGFR mutations in clinical practice, either using tissue-derived DNA or plasma-derived cfDNA. This application will be valuable for laboratories with whose purpose is purely diagnostic and lacking high-throughput technologies.
非小细胞肺癌（NSCLC）中驱动基因突变的发现催生了基于基因组的个体化医学。15%至 20%的腺癌存在与表皮生长因子受体（EGFR）酪氨酸激酶抑制剂（TKI）应答相关的激活突变。在预测性分子病理学中，实验室的专业知识和适当设备的可用性是有价值的资产，尽管方法的选择应取决于待检测样本的性质以及是否仅需要检测特征明确的 EGFR 突变，还是需要检测所有可检测的突变。
EGFR 突变检测领域多种多样，包括筛选和靶向方法，每种方法都有其优缺点。在这里，我们从方法学的角度回顾罗氏 cobas® EGFR 突变检测 v2 这一伴随检测之一，同时也探讨了其液体活检的应用。
罗氏 cobas® EGFR 突变检测 v2 基于实时 RT-PCR，是临床实践中检测 EGFR 突变的可靠选择，可使用组织来源的 DNA 或血浆来源的 cfDNA。对于那些目的纯粹是诊断且缺乏高通量技术的实验室来说，这种应用将是有价值的。
