Gastrointestinal stromal tumour
Gastrointestinal stromal tumour
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DOI：
10.1016/s0140-6736(13)60106-3
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发表时间：
2013-09-14
期刊：
影响因子：
168.9
通讯作者：
Corless, Christopher L.
中科院分区：
文献类型：
--
作者：
Joensuu, Heikki;Hohenberger, Peter;Corless, Christopher L.
胃肠道间质瘤（GIST）是发生在胃肠道的间叶肿瘤，通常发生在胃或小肠，很少发生在腹部其他地方。它们可以发生在任何年龄，中位年龄为60-65岁，通常会导致出血，贫血和疼痛。胃肠道间质瘤有不同的恶性潜力，从良性的小病变到致命的肉瘤。大多数肿瘤对肥大/干细胞生长因子受体KIT和anoctamin 1染色呈阳性，并且在KIT或PDGFRA中具有激酶激活突变。没有这种突变的肿瘤可能在琥珀酸脱氢酶复合物或BRAF基因中发生改变，或很少发生RAS家族基因的改变。大约60%的患者通过手术治愈。如果肿瘤具有伊马替尼敏感突变，则推荐对具有实质性复发风险的患者进行伊马替尼辅助治疗。酪氨酸激酶抑制剂显著改善晚期疾病的生存率，但继发性耐药很常见。
Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms that arise in the gastrointestinal tract, usually in the stomach or the small intestine and rarely elsewhere in the abdomen. They can occur at any age, the median age being 60-65 years, and typically cause bleeding, anaemia, and pain. GISTs have variable malignant potential, ranging from small lesions with a benign behaviour to fatal sarcomas. Most tumours stain positively for the mast/stem cell growth factor receptor KIT and anoctamin 1 and harbour a kinase-activating mutation in either KIT or PDGFRA. Tumours without such mutations could have alterations in genes of the succinate dehydrogenase complex or in BRAF, or rarely RAS family genes. About 60% of patients are cured by surgery. Adjuvant treatment with imatinib is recommended for patients with a substantial risk of recurrence, if the tumour has an imatinib-sensitive mutation. Tyrosine kinase inhibitors substantially improve survival in advanced disease, but secondary drug resistance is common.