胃肠道间质瘤的诊治现状与进展

目的总结胃肠道间质瘤（GIST）的发病机制及流行病学特点,探讨其诊断及治疗并分析其预后。方法复习与GIST的发病机制、流行病学、诊断、治疗及预后方面有关的文献并对其进行综述。结果 GIST为非上皮源性肿瘤,起源于Cajal间叶细胞,是消化道最常见的间叶性肿瘤,约占消化道肿瘤的1%～3%,中位发病年龄为40～60岁,胃为最好发部位。目前认为,GIST的发病机制与原癌基因c-kit或血小板源性生长因子受体α（PDGFRα）基因突变有密切关系,但PDGFRα和c-kit基因突变不会同时出现在同一患者中。GIST的临床表现缺乏特异性,临床诊断主要依靠内镜及影像学技术,最终确诊依靠病理学检查。目前对GIST的治疗以手术与分子靶向药物治疗为主,其预后与肿瘤危险度分级及治疗干预密切相关。结论 GIST是具有恶性潜能的肿瘤,其危险度分级是指导临床治疗及预后评估的重要指标,GIST的预防、诊断、治疗及复发的预防有待进一步研究。

Present Situation and Progress of Diagnosis and Treatment of Gastrointestinal Stromal Tumor

Objective To summarize the pathogenesis and epidemiology features of gastrointestinal stromal tumor （GIST）, explore its diagnosis and therapy, and analyze its prognosis. Method The pertinent literatures about the pathogenesis, epidemiology features, diagnosis, therapy, and prognosis of GIST in recent years were reviewed. Results GIST was non-epithelial tumor which derived from interstitial cells of Cajal, was the most common mesenchy- mal tumor about accounting for 1%-3% in the digestive tract tumor. The median onset age of patients with GIST was 40-60 years. The gastric stromal tumor was about 60% in all the digestive tract tumor. The current consensus statement was that there was a relation between the pathogenesis of the GIST and proto-oncogene c-kit or platelet-derived growth factor receptor alpha （PDGFRa） gene mutation. But the mutations of PDGFRa and c-kit gene did not emerge at the same time in the same patient. The clinical manifestations of GIST were not specific, and the diagnosis mainly depended on endoscope and image technology, the correct diagnosis depended on pathological examination. The treatment of GIST was given priority of surgery and molecular targeted drug therapy, and the prognosis was closely related to risk assessment stratify of GIST. Conclusions GISTs are mesenchymal tumors that has a potential of malignant transformation, the risk classification criteria for aggressive clinical course of primary GIST is an important indication for guiding the clinical therapy and prognostic evaluation. Further research would be needed in prevention, diagnosis, treatment, and relapse prevention of GIST.