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- Title
Manifestações de imagem da doença de von Hippel-Lindau: um guia ilustrado das manifestações abdominais.
- Authors
Alvarenga Fernandes, Daniel; Veloso Mourão, João Luiz; Ávila Duarte, Juliana; Dalaqua, Mariana; Reis, Fabiano; Gomes Caserta, Nelson Marcio
- Abstract
Von Hippel-Lindau (VHL) disease is a monogenic autosomal dominant disorder with germline mutations of the VHL anti-oncogene on the short arm of chromosome 3 (3p25-26). It affects 1:36,000-50,000 individuals, with a penetrance greater than 90% at 65 years of age. Although of variable onset and presentation, with pleiotropism even among members of the same family who share a specific mutation, VHL disease usually manifests initially in young adults. It predisposes to the development of benign and malignant tumors of the central nervous system (CNS) and visceral organs. The clinical diagnosis of VHL disease can be made in the following circumstances: a) in patients with a family history of the disease and at least one of the tumors characteristic of it (e.g., retinal or CNS hemangioblastomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and endolymphatic sac tumors); b) in patients with two or more CNS hemangioblastomas; c) or in patients with a retinal or CNS hemangioblastoma plus at least one visceral tumor characteristic of the disease, excluding renal and epididymal cysts. Imaging plays an important role in the diagnosis and follow-up of patients with VHL disease. This pictorial essay presents characteristic images of abdominal manifestations of VHL disease-related tumors that all radiologists should be aware of.
- Subjects
CENTRAL nervous system tumors; BENIGN tumors; FAMILY history (Medicine); RENAL cell carcinoma; DIAGNOSIS
- Publication
Radiologia Brasileira, 2022, Vol 55, Issue 5, p317
- ISSN
0100-3984
- Publication type
Article
- DOI
10.1590/0100-3984.2021.0121