| VHL基因研究与中枢神经系统血管网状细胞瘤 |
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| 引用本文： | 毛晓春,郑伟明.VHL基因研究与中枢神经系统血管网状细胞瘤[J].医学综述,2008,14(1):63-65. |
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| 作者姓名： | 毛晓春 郑伟明 |
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| 作者单位： | 温州医学院附属第一医院神经外科,浙江,温州,325000 |
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| 基金项目： | 浙江省医药卫生科研项目 |
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| 摘 要： | 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。
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| 关 键 词： | 希佩尔-林道病 VHL基因 缺氧诱导因子1 |
| 文章编号： | 1006-2084（2008）01-0063-03 |
| 收稿时间： | 2007-04-27 |
| 修稿时间： | 2007-10-18 |
Progresses in Von Hippel-lindau Disease and Central Nervous System Angioreticuloma |
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| MAO Xiao-chun,ZHENG Wei-ming.Progresses in Von Hippel-lindau Disease and Central Nervous System Angioreticuloma[J].Medical Recapitulate,2008,14(1):63-65. |
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| Authors: | MAO Xiao-chun ZHENG Wei-ming |
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| Institution: | MAO Xiao-chun, ZHENG Wei-ming.(Department of Neurosurgery, First Affiliated Hospital of Wenzhou Medical College, Wenzhou 325000, China) |
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| Abstract: | 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 hypoxia-inducible factor with important roles in the development of highly vascular tumors.Angioreticuloma in the CNS is a frequent event in VHL disease. |
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| Keywords: | Von Hippel-Lindau disease VHL gene Hypoxia inducible factor-1 |
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