胃肠道间质瘤基因突变类型和治疗的研究进展

Research Progress in Gene Mutation Types and Treatment of Gastrointestinal Stromal Tumor

胃肠道间质瘤(GIST)是胃肠道最常见的间叶源性肿瘤,具有一定的恶性倾向,其产生主要与c-Kit基因或血小板衍生生长因子受体α多肽(PDGFRA)的基因突变有关,没有c-Kit基因或PDGFRA基因突变的GIST被称为野生型GIST。目前GIST的治疗主要包括内镜下治疗、外科手术及靶向治疗,其中内镜下治疗对于直径小于2 cm且无淋巴结转移的GIST具有良好疗效,直径较大且与黏膜密切连接的GIST可选择手术治疗,而具有远处转移或术后病理提示高危险性的GIST需口服靶向药物伊马替尼,其中靶向药物的治疗效果与基因突变的类型及位点密切相关,部分GIST患者对靶向药物的治疗具有耐药性,对于耐药机制的探索及更多靶向治疗药物的研发是未来研究和发展的方向。

Gastrointestinal stromal tumor(GIST)is the most common mesenchymal tumor in the gastrointestinal tract,which has a certain malignant tendency.Its generation is mainly related to the gene mutation of c-Kit gene or platelet-derived growth factor receptorα-polypeptide(PDGFRA).GIST without c-Kit gene or PDGFRA gene mutation is called wild-type GIST.At present,the treatment of GIST mainly includes endoscopic therapy,surgery and targeted therapy.Endoscopic therapy has a good therapeutic effect on GIST with diameter smaller than 2 cm and without lymph node metastasis.GIST with large diameter and closely connected with mucosa can be treated by operation,while GIST with distant metastasis or high risk indicated by postoperative pathology needs oral targeted drug imatinib.The therapeutic effect of targeted drugs is closely related to the types and sites of gene mutations.Some patients with GIST are resistant to targeted drugs.The exploration of drug resistance mechanism and the research and development of more targeted drugs are the direction of the future research and development.