非小细胞肺癌表皮生长因子受体20号外显子插入突变检测临床实践中国专家共识(2024版)

Expert consensus on clinical practice of EGFR exon20 insertion detection in non-small cell lung cancer in China(2024 edition)

中国肺癌人群中约82%为非小细胞肺癌,表皮生长因子受体(EGFR)基因则是中国肺癌人群中最常见的驱动基因突变(51.7%~54.4%)。近年来靶向治疗特别是EGFR酪氨酸激酶抑制剂的快速发展及广泛应用显著提高了中国肺癌患者的生存时间及生存质量。EGFR基因20号外显子插入突变(EGFR ex20ins)在中国非小细胞肺癌患者中发生率约为0.3%~2.9%,居EGFR基因突变第3位,目前已有多个针对性靶向药物研发。然而EGFR ex20ins的变异类型众多,具有高度分子异质性,检测难度较高,临床检测需进一步规范。明确EGFR ex20ins检测临床意义、适用人群及不同检测方法优劣势,规范报告内容,对提高EGFR ex20ins检测准确性具有重要意义。针对EGFR ex20ins检测的实际问题,中国抗癌协会肿瘤病理专业委员会分子病理协作组和中国医师协会肿瘤多学科诊疗专业委员会结合国内外多中心研究及临床实践经验,组织专家讨论并制定了非小细胞肺癌EGFR ex20ins检测临床实践中国专家共识(2024版),以期指导临床EGFR ex20ins检测实践。

About 82%of the Chinese lung cancer population is non-small cell lung cancer(NSCLC),and the epidermal growth factor receptor(EGFR)gene is the most common driver mutation in the Chinese lung cancer population(51.7%-54.4%).In recent years,the rapid development and wide application of targeted therapies,especially EGFR tyrosine kinase inhibitors,have significantly improved the survival time and quality of life of Chinese lung cancer patients.EGFR exon20 insertion(EGFR ex20ins)accounts for 0.3%-2.9%in NSCLC patients in China.Recently,several tyrosine kinase inhibitors have been approved for the therapy of EGFR ex20ins NSCLCs.The variety variants and high molecular heterogeneity of EGFR ex20ins NSCLCs asks for more accurate detection methods,and clinical routine detection process needs to be further standardized.On account to the practical questions of EGFR ex20ins detection,this consensus was finally reached based on the combination of literature,expert experience and internal discussion among committee members,in the hope of providing the guide for standardizing the EGFR ex20ins detection.