表皮生长因子受体少见突变型非小细胞肺癌基因检测及治疗研究进展

Research advance in gene detection and treatment of rare EGFR-mutated non-small cell lung cancer

肺癌是中国发生率及死亡率最高的恶性肿瘤,其中非小细胞肺癌(non-small cell lung cancer,NSCLC)约占全部肺癌的85%。表皮生长因子受体(epidermal growth factor receptor,EGFR)突变是NSCLC最常见的驱动基因之一。在NSCLC中,EGFR少见突变是除19号外显子缺失突变和21号外显子L858R突变以外的EGFR突变,占EGFR突变的7%~23%。近年来,随着二代测序等检测手段的广泛应用,越来越多的少见突变及未知突变被检测出来。少见突变具有散发性及疗效不确定性等特点,缺乏高级别的临床数据,难以制定有效的治疗策略。本文综述了EGFR基因结构和突变特征,讨论EGFR少见突变的检测手段,同时将近年来对EGFR少见突变的治疗方案和研究进展进行总结,以期对临床检测及治疗提供帮助。

Lung cancer is a malignant tumor with the highest morbidity and mortality in China,and non-small cell lung cancer accounts for about 85%.Epidermal growth factor receptor mutation is one of the most common driver genes in NSCLC.In NSCLC,rare EGFR mutations are EGFR mutations other than exon 19 deletion mutation and exon 21 L858R mutation,accounting for about 7-23%of EGFR mutations.More and more rare mutations and unknown mutations are validated in recent years as the wide application of next-generation sequencing.Many rare EGFR mutations couldn’t be effectively treated due to the lack of centralized clinical data and experimental recruitment.We address the EGFR gene structure and mutation characteristics,the approaches for rare EGFR mutations detection,and summarize the treatment plans and research progress of these mutations in non-small cell lung cancer in recent years,in order to benefit clinical detection and treatment.