VHL基因研究与中枢神经系统血管网状细胞瘤

Progresses in Von Hippel-lindau Disease and Central Nervous System Angioreticuloma

希佩尔-林道病(Von Hippel-Lindau,VHL)是一种常染色体显性遗传病,以发生中枢神经系统和其他内脏器官多系统肿瘤为特征。VHL基因是重要的肿瘤抑制基因,VHL基因突变导致VHL蛋白及pVHL-ElonginC-Elongin B-Cul2复合物形成障碍,引起形成富血管肿瘤重要步骤的缺氧诱导因子功能障碍,导致肿瘤发生。发生中枢神经系统血管网状细胞瘤是VHL病中的常见事件。

VHL （von Hippel-Lindau） disease is an autosomal dominant disorder characterized by causing various tumors and cysts in the central nervous system （CNS） and other visceral organs. VHL gene is an important tumor suppressor gene, whose germline mutation can reult in difficult production of VHL protein and pVHL-ElonginC-ElonginB-Cul2 complex, and a dysfunction of the hy-poxia-inducible factor with important roles in the development of highly vascular tumors. An-gioreticuloma in the CNS is a frequent event in VHL disease.