VHL Disease
VHL Disease
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DOI：
10.1016/j.beem.2010.01.002
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发表时间：
2010-06-01
影响因子：
7.4
通讯作者：
Dahia, Patricia L. M.
中科院分区：
文献类型：
--
作者：
Barontini, Marta;Dahia, Patricia L. M.
希佩尔-林道病（VHL）增加了对几种恶性肿瘤的易感性，包括肾细胞癌、中枢神经系统或视网膜血管母细胞瘤和嗜铬细胞瘤。导致该疾病的VHL肿瘤抑制基因通过靶向转录因子缺氧诱导因子（HIF）降解来编码缺氧反应的主要调节因子。在这篇综述中，我们提出了疾病的临床特征摘要，并强调儿科人群中VHL综合征的独特方面。基于嗜铬细胞瘤风险的基因型-表型关联表明，VHL存在其他不依赖于hif的功能，但这些功能仍未得到充分探索。我们还研究了VHL的这些多效性作用的进展，这有助于解释VHL疾病的临床特征。这些进展具有重要的转化意义，并可能在未来为受该疾病影响的个体提供新的治疗选择。(C) 2010 Elsevier Ltd.版权所有。
von Hippel-Lindau disease (VHL) disease increases susceptibility to several malignancies, including renal cell carcinoma, haemangioblastomas of the central nervous system or retina and phaeochromocytomas. The VHL tumour suppressor gene, responsible for the disease, encodes for a major regulator of the hypoxic response by targeting the transcription factor hypoxia inducible factor (HIF) for degradation. In this review, we present a synopsis of clinical features of the disease and emphasise unique aspects of VHL syndrome in the paediatric population. Genotype-phenotype associations based on the risk of phaeochromocytoma have pointed to the existence of additional, HIF-independent functions of VHL that remain underexplored. We also examine the progress on these pleiotropic roles of VHL, which contribute to explain clinical features of VHL disease. These advances have important translational implications and are likely to offer a new host of therapeutic options to individuals affected by the disease in the future. (C) 2010 Elsevier Ltd. All rights reserved.