Epidermal growth factor receptor (EGFR) mutation testing in advanced non-small-cell lung cancer (NSCLC) has evolved rapidly over the past decade, largely triggered by the introduction of the targeted EGFR tyrosine kinase inhibitors (TKIs). Initially used to detect common EGFR mutations and determine the most appropriate first-line therapy at diagnosis, testing methodologies have expanded to test for multiple mutations at multiple time points throughout the disease course. Here we review the current mutation testing approaches, including types of biopsies, and the available assays commonly used in the clinic. Specific application of these approaches in advanced NSCLC, including current guideline recommendations, and potential future developments are discussed.

在过去十年中，晚期非小细胞肺癌 (NSCLC) 的表皮生长因子受体 (EGFR) 突变检测发展迅速，主要是由靶向 EGFR 酪氨酸激酶抑制剂 (TKI) 的引入引发的。最初用于检测常见的 EGFR 突变并在诊断时确定最合适的一线治疗，检测方法已扩展到在整个疾病过程中的多个时间点检测多个突变。在这里，我们回顾了当前的突变检测方法，包括活检类型，以及临床常用的可用检测方法。讨论了这些方法在晚期 NSCLC 中的具体应用，包括当前的指南建议，以及潜在的未来发展。