Gastrointestinal stromal tumours (GIST) have an incidence of ~1.2 per 10⁵ individuals per year in most countries. Around 80% of GIST have varying molecular changes, predominantly mutually exclusive activating KIT or PDGFRA mutations, but other, rare subtypes also exist. Localized GIST are curable, and surgery is their standard treatment. Risk factors for relapse are tumour size, mitotic index, non-gastric site and tumour rupture. Patients with GIST with KIT or PDGFRA mutations sensitive to the tyrosine kinase inhibitor (TKI) imatinib that are at high risk of relapse have improved survival with adjuvant imatinib treatment. In advanced disease, median overall survival has improved from 18 months to >70 months since the introduction of TKIs. The role of surgery in the advanced setting remains unclear. Resistance to TKIs arise mainly from subclonal selection of cells with resistance mutations in KIT or PDGFRA when they are the primary drivers. Advanced resistant GIST respond to second-line sunitinib and third-line regorafenib, as well as to the new broad-spectrum TKI ripretinib. Rare molecular forms of GIST with alterations involving NF1, SDH genes, BRAF or NTRK genes generally show primary resistance to standard TKIs, but some respond to specific inhibitors of the activated genes. Despite major advances, many questions in both advanced and localized disease remain unanswered.

在大多数国家，胃肠道间质瘤 (GIST) 的发病率为每年每 10 ⁵个人约 1.2 人。大约 80% 的 GIST 有不同的分子变化，主要是相互排斥的激活KIT或PDGFRA突变，但也存在其他罕见的亚型。局部 GIST 是可以治愈的，手术是他们的标准治疗方法。复发的危险因素是肿瘤大小、有丝分裂指数、非胃部位和肿瘤破裂。患有KIT或PDGFRA 的GIST 患者对酪氨酸激酶抑制剂 (TKI) 伊马替尼敏感且复发风险高的突变通过伊马替尼辅助治疗提高了生存率。在晚期疾病中，自引入 TKI 以来，中位总生存期已从 18 个月提高到 >70 个月。手术在晚期环境中的作用仍不清楚。对 TKI 的抗性主要来自在KIT或PDGFRA 中具有抗性突变的细胞的亚克隆选择，当它们是主要驱动因素时。晚期耐药 GIST 对二线舒尼替尼和三线瑞戈非尼以及新的广谱 TKI ripretinib 有反应。罕见的 GIST 分子形式，具有涉及NF1、SDH 基因、BRAF 的改变或 NTRK 基因通常显示对标准 TKI 的主要抗性，但有些对激活基因的特定抑制剂有反应。尽管取得了重大进展，但晚期和局部疾病的许多问题仍未得到解答。