From the Departments of Radiology (D.G.) and Pathology (P.R.), University of Texas MD Anderson Cancer Center, Pickens Academic Tower, 1400 Pressler St, Unit 1473, Houston, TX 77030-4009; Department of Radiology, Mayo Clinic Arizona, Phoenix/Scottsdale, Ariz (C.O.M.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (P.J.P., M.G.L.); Department of Radiology, Indiana University School of Medicine, Indianapolis, Ind (K.S.); and Section of Abdominal Imaging, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (S.B.).
Radiographics. 2018 May-Jun;38(3):849-866. doi: 10.1148/rg.2018170156. Epub 2018 Mar 30.
Von Hippel-Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL may develop multiple benign and malignant tumors involving various organ systems, including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors, pancreatic neuroendocrine tumors, pancreatic cystadenomas, pancreatic cysts, clear cell renal cell carcinomas, renal cysts, pheochromocytomas, paragangliomas, and epididymal and broad ligament cystadenomas. The VHL/hypoxia-inducible factor pathway is believed to play a key role in the pathogenesis of VHL-related tumors. The diagnosis of VHL can be made clinically when the characteristic clinical history and findings have manifested, such as the presence of two or more CNS HBs. Genetic testing for heterozygous germline VHL mutation may also be used to confirm the diagnosis of VHL. Imaging plays an important role in the diagnosis and surveillance of patients with VHL. Familiarity with the clinical and imaging manifestations of the various VHL-related tumors is important for early detection and guiding appropriate management. The purpose of this article is to discuss the molecular cytogenetics and clinical manifestations of VHL, review the characteristic multimodality imaging features of the various VHL-related tumors affecting multiple organ systems, and discuss the latest advances in management of VHL, including current recommendations for surveillance and screening. RSNA, 2018 An earlier incorrect version of this article appeared online. This article was corrected on April 9, 2018.
希佩尔-林道综合征（VHL）是一种常染色体显性遗传的肿瘤疾病，由于 VHL 基因的种系突变而发生，该基因位于 3 号染色体的短臂上。VHL 患者可能会出现涉及多种器官系统的多种良性和恶性肿瘤，包括视网膜血管母细胞瘤（HBs）、中枢神经系统（CNS）HBs、内淋巴囊肿瘤、胰腺神经内分泌肿瘤、胰腺囊腺瘤、胰腺囊肿、透明细胞肾细胞癌、肾囊肿、嗜铬细胞瘤、副神经节瘤以及附睾和阔韧带囊腺瘤。VHL/缺氧诱导因子途径被认为在 VHL 相关肿瘤的发病机制中起关键作用。当出现特征性的临床病史和发现时，如存在两个或更多 CNS HBs，可以临床诊断 VHL。杂合性种系 VHL 突变的基因检测也可用于确诊 VHL。影像学在 VHL 患者的诊断和监测中发挥着重要作用。熟悉各种 VHL 相关肿瘤的临床和影像学表现对于早期发现和指导适当的管理至关重要。本文旨在讨论 VHL 的分子细胞遗传学和临床表现，回顾影响多个器官系统的各种 VHL 相关肿瘤的特征性多模态影像学特征，并讨论 VHL 的最新管理进展，包括目前对监测和筛查的建议。RSNA，2018 本文的早期错误版本曾在线发布。该文章于 2018 年 4 月 9 日更正。
