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Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease

Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on aver...

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Autores principales: Furness, Hugh, Salfity, Louay, Devereux, Johanna, Halliday, Dorothy, Hanson, Helen, Ruddy, Deborah M., Shah, Neha, Sultana, George, Woodward, Emma R., Sandford, Richard N., Snape, Katie M., Maher, Eamonn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472407/
https://www.ncbi.nlm.nih.gov/pubmed/34573396
http://dx.doi.org/10.3390/genes12091414
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author Furness, Hugh
Salfity, Louay
Devereux, Johanna
Halliday, Dorothy
Hanson, Helen
Ruddy, Deborah M.
Shah, Neha
Sultana, George
Woodward, Emma R.
Sandford, Richard N.
Snape, Katie M.
Maher, Eamonn R.
author_facet Furness, Hugh
Salfity, Louay
Devereux, Johanna
Halliday, Dorothy
Hanson, Helen
Ruddy, Deborah M.
Shah, Neha
Sultana, George
Woodward, Emma R.
Sandford, Richard N.
Snape, Katie M.
Maher, Eamonn R.
author_sort Furness, Hugh
collection PubMed
description Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at a younger age and frequently have a personal or family history of VHL disease-related tumours (e.g., retinal or central nervous system (CNS) haemangioblastomas, renal cell carcinoma, phaeochromocytoma). However, a subset present an apparently sporadic haemangioblastoma without other features of VHL disease. To detect such individuals, it has been recommended that genetic testing and clinical/radiological assessment for VHL disease should be offered to patients with a haemangioblastoma. To assess “real-world” clinical practice, we undertook a national survey of clinical genetics centres. All participating centres responded that they would offer genetic testing and a comprehensive assessment (ophthalmological examination and CNS and abdominal imaging) to a patient presenting with a CNS haemangioblastoma. However, for individuals who tested negative, there was variability in practice with regard to the need for continued follow-up. We then reviewed the results of follow-up surveillance in 91 such individuals seen at four centres. The risk of developing a potential VHL-related tumour (haemangioblastoma or RCC) was estimated at 10.8% at 10 years follow-up. The risks of developing a recurrent haemangioblastoma were higher in those who presented <40 years of age. In the light of these and previous findings, we propose an age-stratified protocol for surveillance of VHL-related tumours in individuals with apparently isolated haemangioblastoma.
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spelling pubmed-84724072021-09-28 Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease Furness, Hugh Salfity, Louay Devereux, Johanna Halliday, Dorothy Hanson, Helen Ruddy, Deborah M. Shah, Neha Sultana, George Woodward, Emma R. Sandford, Richard N. Snape, Katie M. Maher, Eamonn R. Genes (Basel) Article Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at a younger age and frequently have a personal or family history of VHL disease-related tumours (e.g., retinal or central nervous system (CNS) haemangioblastomas, renal cell carcinoma, phaeochromocytoma). However, a subset present an apparently sporadic haemangioblastoma without other features of VHL disease. To detect such individuals, it has been recommended that genetic testing and clinical/radiological assessment for VHL disease should be offered to patients with a haemangioblastoma. To assess “real-world” clinical practice, we undertook a national survey of clinical genetics centres. All participating centres responded that they would offer genetic testing and a comprehensive assessment (ophthalmological examination and CNS and abdominal imaging) to a patient presenting with a CNS haemangioblastoma. However, for individuals who tested negative, there was variability in practice with regard to the need for continued follow-up. We then reviewed the results of follow-up surveillance in 91 such individuals seen at four centres. The risk of developing a potential VHL-related tumour (haemangioblastoma or RCC) was estimated at 10.8% at 10 years follow-up. The risks of developing a recurrent haemangioblastoma were higher in those who presented <40 years of age. In the light of these and previous findings, we propose an age-stratified protocol for surveillance of VHL-related tumours in individuals with apparently isolated haemangioblastoma. MDPI 2021-09-15 /pmc/articles/PMC8472407/ /pubmed/34573396 http://dx.doi.org/10.3390/genes12091414 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Furness, Hugh
Salfity, Louay
Devereux, Johanna
Halliday, Dorothy
Hanson, Helen
Ruddy, Deborah M.
Shah, Neha
Sultana, George
Woodward, Emma R.
Sandford, Richard N.
Snape, Katie M.
Maher, Eamonn R.
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title_full Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title_fullStr Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title_full_unstemmed Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title_short Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
title_sort investigation and management of apparently sporadic central nervous system haemangioblastoma for evidence of von hippel–lindau disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472407/
https://www.ncbi.nlm.nih.gov/pubmed/34573396
http://dx.doi.org/10.3390/genes12091414
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