VHL Disease

被引：55

作者：

Barontini, Marta ^{[2
]}

Dahia, Patricia L. M. ^{[1
]}

机构：

[1] Univ Texas Hlth Sci Ctr San Antonio, Canc Therapy & Res Ctr, Dept Med & Cellular & Struct Biol, San Antonio, TX 78229 USA

[2] Hosp Ninos Dr Ricardo Gutierrez, Ctr Endocrinol Invest CEDIE, Buenos Aires, DF, Argentina

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2010年 / 24卷 / 03期

关键词：

VHL; von Hippel-Lindau disease; renal carcinoma; haemangioblastoma; phaeochromocytoma; paraganglioma; hereditary tumour; hypoxia; HIF; angiogenesis; HIPPEL-LINDAU-DISEASE; TUMOR-SUPPRESSOR PROTEIN; CENTRAL-NERVOUS-SYSTEM; RENAL-CELL CARCINOMA; RETINAL CAPILLARY HEMANGIOMA; PRIMARY CILIUM-MAINTENANCE; MOLECULAR-GENETIC ANALYSIS; GERMLINE MUTATION; KIDNEY CANCER; E-CADHERIN;

D O I：

10.1016/j.beem.2010.01.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：401 / 413

页数：13

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