琥珀酸脱氢酶缺陷型胃肠间质瘤研究进展  

Research progress of succinate dehydrogenase-deficient gastrointestinal stromal tumors

作　　者：杨舒雅 叶颖江[1] 高志冬[1] YANG Shu-ya;YE Ying-jiang;GAO Zhi-dong(Department of Gastroenterological Surgery,Laboratory of Surgical Oncology,Peking University People's Hospital,Beijing 100044,China)

机构地区：[1]北京大学人民医院胃肠外科北京大学人民医院外科肿瘤研究室,北京100044

出　　处：《中国实用外科杂志》2022年第3期344-348,共5页Chinese Journal of Practical Surgery

基　　金：北京大学人民医院研究与发展基金——临床研究培育项目(No.RDL2020-06);北京大学人民医院研究与发展基金——111工程归国人员启动项目(No.RDG2021-08)。

摘　　要：琥珀酸脱氢酶(SDH)缺陷型胃肠间质瘤(GIST)是一类没有KIT/PDGFRA突变的野生型GIST,以SDHB免疫组化阴性为特征。SDH缺陷导致细胞内琥珀酸堆积,后者作为促癌代谢物可引发多种表观遗传学和代谢改变,促进肿瘤发生发展。SDH缺陷型GIST发病年龄早,病变部位以胃为主,可合并发生副神经节瘤或肺软骨瘤。该型GIST以手术治疗为主,对靶向治疗反应欠佳,替莫唑胺等传统化疗药物可能对其有潜在疗效。SDH缺陷型GIST的发病机制及有效治疗方法等仍有待进一步探索。Succinate dehydrogenase(SDH)-deficient gastrointestinal stromal tumor(GIST)is a type of wild-type GIST without KIT/PDGFRA mutation,and it is characterized by negative SDHB immunohistochemistry.SDH deficiency leads to the accumulation of succinic acid in cells.The latter,as a kind of oncometabolite,can trigger a variety of epigenetic and metabolic changes,thus promoting tumor occurrence and development.The age of onset of SDH-deficient GIST is often early,and the lesion is mainly located in the stomach,which sometimes can be associated with paraganglioma and/or pulmonary chondroma.This type of GIST is still primarily treated with surgery.It does not respond well to targeted drugs therapy,while traditional chemotherapy drugs such as temozolomide may potentially affect it.SDH-deficient GIST’s pathogenesis and effective treatment methods need to be further explored.

关 键 词：胃肠间质瘤 琥珀酸脱氢酶 

分 类 号：R6[医药卫生—外科学]