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胃肠道间质瘤(GIST)的基因突变检测:支持诊断和预测格列卫治疗反应 被引量:2

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摘要 在1998年和2003年,一些关于胃肠道间质瘤的重要研究已经阐明胃肠道间质瘤存在c—kit或PDGFRA(platelet—derived growth factor receptor—alpha)基因突变,这种突变属于功能获得性突变。c—kit或PDGFRA表达蛋白同属跨膜酪氨酸激酶受体,在一般情况下,与配体结合形成二聚体,从而激活酪氨酸激酶体系,参与机体的生理活动。两种受体基因任何一种发生突变,都会产生无配体作用下,受体自身持续性激活,并引领与细胞分化、生长、凋亡相关的下游信号传导活跃,导致细胞的肿瘤性生长。c—kit和(或)PDGFRA基因突变,成为胃肠道间质瘤发生、发展的重要动因。这是近十年来病理学转化性研究重要成果的例证。
作者 吴秉铨
出处 《中华普通外科学文献(电子版)》 2008年第4期54-55,共2页 Chinese Archives of General Surgery(Electronic Edition)
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