泌尿外科医师面临的重要肿瘤之一是肾细胞癌(RCC).VHL基因是一个典型的抑癌基因,它在RCC中的突变引起了人们的关注.RCC中普遍存在着VHL基因突变、杂合性缺失(LOH)及甲基化.pVHL是VHL的基因产物.泛素连接酶的组成成分之一就是pVHL,它在细胞的增殖、凋亡和癌细胞的浸润、转移中起到了巨大的作用.作者就RCC中VHL基因的突变及其分子机制,以及VHL靶向治疗在临床中的应用作一综述.

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