野生型胃肠道间质瘤的研究进展

胃肠道间质瘤(GIST)是最常见的消化道间叶组织来源肿瘤,约10%的GIST患者分子检测无KIT/PDGFRA基因突变,称为野生型GIST。根据是否有琥珀酸脱氢酶B(SDHB)表达缺失,野生型GIST可分为SDH缺陷型和非SDH缺陷型,SDH缺陷型包括无综合征相关性、Carney三联征相关性及Carney-stratakis综合征相关性GIST;非SDH缺陷型包括BRAF突变、Ⅰ型神经纤维瘤病相关性、K/N-RAS突变及四重野生型GIST等。野生型GIST的发生发展、临床病理特征和治疗原则均与KIT或PDGFRA突变的GIST有较大差异。本文就野生型GIST的分子机制和临床诊疗进展做一综述。

Research progress of wild-type gastrointestinal stromal tumors

Gastrointestinal stromal tumor(GIST)is the most common tumor of archenteric mesenchymal tissue.About 10% of patients are diagnosed as GIST morphologically and immunohistochemically without KIT and PDGFRA gene mutations which is defined wild-type GIST.According to the absence of succinate dehydrogenase B(SDHB)expression,wild-type GIST can be divided into SDH-deficient and non-SDH-deficient types.SDH-deficient types include syndrome-free associated,Carney triad associated,and Carney-stratakis synthesis associated GIST;non-SDH-deficient types include BRAF mutations,type I neurofibromatosis-related,K/N-RAS mutations,and quadruple wild-type GIST.The occurrence,development,clinicopathological features and treatment principles of wild-type GIST are significantly different from those of KIT or PDGFRA mutant GIST.This article reviews the molecular mechanism and clinical progress of wild-type GIST.