【摘要】 肺癌在全球癌症死亡原因中占比最高，对人类健康造成了极大威胁。30%-40%的非小细胞肺癌（non-small cell lung cancer, NSCLC）的发生是由于表皮生长因子受体（epidermal growth factor receptor, EGFR）发生点突变、外显子插入、外显子缺失导致。除常见的19号外显子缺失突变和21号外显子L858R突变外，18号外显子G719X突变、21号外显子L861Q突变、20号外显子S768I突变是最主要的罕见突变。目前，针对主要罕见突变的诊断方法主要是下一代测序技术（next-generation sequencing, NGS）、数字聚合酶链式反应（digital polymerase chain reaction,dPCR）、微滴式数字PCR(droplet digital PCR, ddPCR)等。关于G719X/L861Q/S768I突变NSCLC的靶向治疗，第一代EGFR酪氨酸激酶抑制剂（tyrosine kinase inhibitors, TKIs）疗效较差，第二代和第三代EGFR-TKIs疗效相当，新型第三代EGFR-TKIs和联合治疗展现出不错的治疗前景。本文对G719X/L861Q/S768I突变NSCLC诊断及靶向治疗进展进行了归纳，以期为后续临床用药及研究提供参考。更多还原

【Abstract】 Lung cancer accounts for the highest proportion of cancer deaths in the world and poses a great threat to human health. About 30% to 40% of non-small cell lung cancer(NSCLC) is caused by point mutations, exon insertion and exon deletion of the epidermal growth factor receptor(EGFR). In addition to the common exon 19 deletion mutation and exon 21 L858R mutation, exon 18 G719X mutation, exon 21 L861Q mutation and exon 20 S768I mutation are the most important rare mutations. At present, the diagnostic methods for major rare mutations are mainly next-generation sequencing(NGS), digital polymerase chain reaction(dPCR), droplet digital PCR(ddPCR), etc. Regarding the targeted therapy of G719X/L861Q/S768I mutant NSCLC, the first generation EGFR-tyrosine kinase inhibitors(TKIs) have poor efficacy,while the second and third generation EGFR-TKIs have similar efficacy. The novel third generation EGFR-TKIs and combination therapy show a good therapeutic prospect. This article summarized the progress in the diagnosis and targeted therapy of G719X/L861Q/S768I mutant NSCLC, so as to provide reference for subsequent clinical drug use and research.更多还原