胃肠道间质瘤的基因研究进展

Research progress of genes associated with gastrointestinal stromal tumors

胃肠道间质瘤(GISTs)是消化道最常见的间叶源性肿瘤,其发生主要源自于KIT基因或血小板源性生长因子受体α(PDGFRA)基因的突变。但约10%～15%的GISTs不存在KIT或PDGFRA基因的突变,被称为野生型GISTs,主要包括琥珀酸脱氢酶功能缺失型GISTs、BRAF突变型GISTs,以及Ⅰ型神经纤维瘤病型GISTs。GISTs相关的基因研究可以为其诊断及治疗提供新思路,笔者就GISTs发生、发展、诊断、治疗及预后等相关的基因研究进展进行综述。

Gastrointestinal stromal tumors （GISTs） are the most common mesenchymal tumors of the digesti most of them are caused by the gene mutations of KIT or platelet-derived growth factor receptor a ve tract, and （PDGFRA）. However, approximately 10% to 15% of the GISTs without KIT or PDGFRA gene mutations are called wild type GISTs, which include succinate dehydrogenase-deficient GISTs, BRAF mutant GISTs and neurofibromatosis 1-related GISTs. Researches on GISTs-associated genes can provide new ideas for the diagnosis and treatment of GISTs. The authors address the research progress of genes associated with the occurrence, development, diagnosis, treatment and prognosis of GISTs.