血管母细胞瘤病：临床与科学综述。
von Hippel-Lindau disease: a clinical and scientific review.
机构信息
Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK.
出版信息
Eur J Hum Genet. 2011 Jun;19(6):617-23. doi: 10.1038/ejhg.2010.175. Epub 2011 Mar 9.
Abstract
The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.
摘要
常染色体显性遗传疾病 von Hippel-Lindau 病（VHL）是由 VHL 肿瘤抑制基因（TSG）的种系突变引起的。VHL 突变易导致多种肿瘤的发生（最常见的是视网膜和中枢神经系统血管母细胞瘤、肾透明细胞癌和嗜铬细胞瘤）。在这里，我们回顾了 VHL 病的临床和遗传特征，简要回顾了分子发病机制，并概述了临床管理和肿瘤监测策略。
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