Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations
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.
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Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem
2022
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oai:scielo:S0100-398420220005003172022-10-20Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestationsFernandes,Daniel AlvarengaMourão,João Luiz VelosoDuarte,Juliana ÁvilaDalaqua,MarianaReis,FabianoCaserta,Nelson Marcio Gomes von Hippel-Lindau disease/diagnostic imaging Carcinoma renal cell Pancreatic neoplasms Pheochromocytoma 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.info:eu-repo/semantics/openAccessPublicação do Colégio Brasileiro de Radiologia e Diagnóstico por ImagemRadiologia Brasileira v.55 n.5 20222022-10-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842022000500317en10.1590/0100-3984.2021.0121-en |
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Fernandes,Daniel Alvarenga Mourão,João Luiz Veloso Duarte,Juliana Ávila Dalaqua,Mariana Reis,Fabiano Caserta,Nelson Marcio Gomes |
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Fernandes,Daniel Alvarenga Mourão,João Luiz Veloso Duarte,Juliana Ávila Dalaqua,Mariana Reis,Fabiano Caserta,Nelson Marcio Gomes Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
author_facet |
Fernandes,Daniel Alvarenga Mourão,João Luiz Veloso Duarte,Juliana Ávila Dalaqua,Mariana Reis,Fabiano Caserta,Nelson Marcio Gomes |
author_sort |
Fernandes,Daniel Alvarenga |
title |
Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
title_short |
Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
title_full |
Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
title_fullStr |
Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
title_full_unstemmed |
Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations |
title_sort |
imaging manifestations of von hippel-lindau disease: an illustrated guide focusing on abdominal manifestations |
description |
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. |
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Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem |
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2022 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842022000500317 |
work_keys_str_mv |
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