胃肠间质瘤（GISTs）是最常见的间叶来源的恶性肿瘤，起源于胃肠道Cajal间质细胞。GISTs的三种主要分子亚型为KIT突变型、血小板衍生生长因子受体α（PDGFRA） 突变型及野生型。大多数GISTs存在KIT或PDGFRA的功能获得性突变。特定的GIST突变限制了明确定义的分子亚型，这些亚型必须在诊断时明确进而指导临床管理和治疗决策。手术是治疗局部GIST的有效方法。目前酪氨酸激酶抑制剂（TKI）伊马替尼已用于转移性GIST的标准一线治疗，虽然其临床获益率为80%，但多数患者接受治疗2~3年后出现疾病进展。二线和三线药物选择分别包括舒尼替尼和瑞戈非尼。近年美国联邦和药物管理局批准了两种新的TKI用于治疗重度预处理的晚期/不可切除的GIST，包括阿伐替尼（PDGFRA外显子18突变的选择性抑制剂，如D842V突变）和瑞派替尼（c-Kit和PDGFRA的广谱激酶抑制剂）。靶向药物和外科手术的联合应用可改善GISTs患者的预后。

Gastrointestinal stromal tumors (GISTs) are common malignant tumors of mesenchymal origin, originating from Cajal interstitial cells in the gastrointestinal tract. The three main molecular subtypes of GISTs are KIT mutant, platelet-derived growth factor receptor α (PDGFRA) mutant and wild type. Most GISTs have functional acquisition mutation of KIT or PDGFRA. Specific mutations limit well-defined molecular subtypes of GIST that should be determined during diagnosis to guide clinical management and treatment decisions. Surgery is an effective method for local GIST. At present, tyrosine kinase inhibitor (TKI) imatinib has been used as standard first-line treatment for metastatic GIST. Although the clinical benefit rate is 80%, most GIST patients have developed disease progression after 2-3 years of imatinib treatment. Second-line and third-line options include sunitinib and regofenil, respectively. Recently, the US Federal and Drug Administration has approved two new TKIs for the treatment of advanced/unresectable GISTs with severe pretreatment, including avatinib (selective inhibitor of Exon 18 mutation of PDGFRA, such as D842V mutation) and ripretinib (broad-spectrum kinase inhibitor of c-Kit and PDGFRA). The combination of targeted drugs and surgery can improve the prognosis of GISTs patients.