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胃肠道间质瘤(GIST)是胃肠道最常见的间质肿瘤,可能起源于胃肠壁的Cajal间质细胞或向Cajal细胞分化的干细胞。GIST中c-kit基因突变,导致KIT酪氨酸激酶持续活化,细胞增殖分化失控,最终形成肿瘤,与疾病的复发和预后相关。内镜检查是发现GIST的主要方法,最终确诊需要病理学诊断。肿瘤的大小和有丝分裂指数是评价良恶性或危险度的最主要指标。联合检测CD117(KIT蛋白)和CD34的表达,对GIST的诊断具有重要价值,其中KIT的敏感性和特异性较高。手术为治疗的首选方法。STI571(imatinib)为酪氨酸激酶抑制剂,应用于手术无法切除或已发生转移的GIST患者,已取得较好的疗效。
Gastrointestinal stromal tumors (GISTs) are the most common stromal tumors of the gastrointestinal tract and may originate from Cajal stromal cells in the gastrointestinal wall or stem cells that differentiate into Cajal cells. Mutation of c-kit gene in GIST results in sustained activation of KIT tyrosine kinase, uncontrolled proliferation and differentiation of cells, and eventually tumor formation, which is associated with the recurrence and prognosis of the disease. Endoscopy is the primary method of finding GISTs and the final diagnosis requires pathological diagnosis. Tumor size and mitotic index are the most important indicators to evaluate benign and malignant degree. Combined detection of CD117 (KIT protein) and CD34 expression is of great value in the diagnosis of GIST, of which KIT is more sensitive and specific. Surgery is the preferred method of treatment. STI571 (imatinib), a tyrosine kinase inhibitor, has been shown to be effective in patients with unresectable or metastatic GIST.