非小细胞肺癌EGFR- TK非经典突变临床研究进展

Clinical Research Advances in Uncommon EGFR-TK Mutation in Non-Small Cell Lung Cancer

目前已发现594种表皮生长因子受体(epidermal growth factor receptor,EGFR)突变类型,其中95%以上的突变存在于编码酪氨酸激酶结构域的基因的18~21外显子中。在总突变中,Del19(19号外显子缺失突变)与L858R(21号外显子点突变)突变约占84.60%,被确认为EGFR-TK敏感突变。其余突变包括:G719X(18号外显子点突变),E709X(18号外显子点突变),Del18(18号外显子缺失突变),Ins19(19号外显子插入突变),Ins20(20号外显子插入突变), L861Q(21号外显子点突变)等为非经典突变,约占总突变形式的12.10%。非小细胞肺癌(non-small cell lung cancer,NSCLC)EGFR各类型非经典突变对不同EGFR-TKIs治疗的反应差别很大,因此,了解EGFR非经典突变对靶向治疗的反应,对存在非经典突变的NSCLC患者的治疗具有重大意义。本文对NSCLC各个EGFR非经典突变的类型及针对此类突变的靶向治疗进展进行综述,以期为临床治疗提供参考。

At present, there are 594 types of epidermal growth factor receptor ( EGFR) mutations, of which more than 95% exist in exon 18-21 of the gene encoding tyrosine kinase ( TK) domain. The mutations of Del19 and L858R account for 84. 60% of the total mutations and are considered to be EGFR-TK sensitive mutations. Other mutations include G719X, E709X, Del18, Ins19, Ins20, L861Q, etc. which are uncommon mutations, accounting for 12. 10% of the total mutations. The response of uncommon EGFR mutations in non-small cell lung cancer ( NSCLC) to EGFR-TKIs treatment varies greatly. Therefore, it is of great significance to understand the response of uncommon EGFR mutations to targeted therapies for NSCLC patients with uncommon mutations. In order to provide experience for clinical treatment, the types of uncommon EGFR mutations and targeted therapies aiming to those mutations were reviewed in this paper.