晚期非小细胞肺癌T790M突变的检测方法及临床意义

表皮生长因子受体酪氨酸激酶抑制剂（epidermal growth factor receptor-tyrosine kinase inhibitors，EGFR-TKIs）是EGFR活化突变阳性晚期非小细胞肺癌（non-small cell lung cancer，NSCLC）患者的有效治疗药物，然而，几乎所有服药患者最终将出现耐药，第20号外显子的T790M点突变可能是导致耐药的机制之一，如何敏感、准确地检测T790M基因突变是技术关键，外周血检测因创伤小、操作简便而成为近几年研究热点，实时定量检测血浆T790M突变有望成为监测EGFR-TKI疗效的有效途径。目前，T790M突变的临床意义尚存争议，近年来出现的第三代EGFR-TKI对T790M突变阳性患者的有效率较高，使得克服T790M突变导致的耐药成为可能。本文就T790M检测方法及其临床意义进行综述。 

Methodology and clinical significance of detecting EGFR-T790M mutation in advanced non-small cell lung cancer

Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) comprise an effective therapy for advanced non-small cell lung cancer patients with EGFR-activating mutations. Unfortunately, most patients eventually develop resistance to EGFR-TKIs, probably due to a secondary point mutation of EGFR T790M. Thus, a sensitive method for accurate detection of T790M mutation is essential. Peripheral blood detection has gained our attention because it is convenient, making dynamic noninvasive quantitative detection of T790M mutation an optimal means of monitoring the efficacy of EGFR-TKIs. To date, the clinical significance of T790M mutation and EGFR-TKI resistance remains controversial. Several EGFR-TKIs targeting EGFR mutation, which have been introduced in recent years, showed better response in patients with T790M mutation, indicating that T790M may be a biomarker for conquering resistance. This review introduces the methodology of T790M detection and its role in clinical practice.