Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor in the gastrointestinal tract. Approximately 10%-15% of GIST does not harbor any mutation in C-kit/PDGFRA genes and is defined as wild-type GIST. There are significant differences in molecular mechanisms and clinical characteristics between wild-type GIST and C-kit/PDGFRA-mutant GIST. Wild-type GIST can be divided into SDH-deficient GIST, NF1-related GIST, BRAF-mutant GIST, KRAS-mutant GIST and quadruple wild-type GIST according to different pathogenesis. We elucidate the clinical features and targeted therapy of wild-type GIST in order to provide reference for clinical practice.
胃肠间质瘤（GIST）是胃肠道最常见的间叶源性肿瘤。有10%~15%的GIST不存在C-kit/PDGFRA基因突变，称为野生型GIST，其分子机制和临床特征与C-kit/PDGFRA突变型GIST存在显著差异。根据发病机制的不同，野生型GIST可分为SDH缺陷型、NF1相关性、BRAF突变型、KRAS突变型以及四重野生型GIST。本文对不同野生型GIST临床特征与靶向治疗进行综述，以期为临床实践提供参考。.
Keywords: Diagnosis; Gastrointestinal stromal tumor; Targeted therapy; Wild-type.