{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T17:32:09Z","timestamp":1787247129941,"version":"build-2736575974"},"reference-count":22,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T00:00:00Z","timestamp":1631664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2013Lindau (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 \u201creal-world\u201d 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 &lt;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.<\/jats:p>","DOI":"10.3390\/genes12091414","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T04:50:28Z","timestamp":1631681428000},"page":"1414","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel\u2013Lindau Disease"],"prefix":"10.3390","volume":"12","author":[{"given":"Hugh","family":"Furness","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, St George\u2019s Healthcare NHS Trust, London SW7 0RE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louay","family":"Salfity","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, St George\u2019s Healthcare NHS Trust, London SW7 0RE, UK"},{"name":"Department of Clinical Genetics, Guy\u2019s Hospital, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Devereux","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Guy\u2019s Hospital, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy","family":"Halliday","sequence":"additional","affiliation":[{"name":"Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Hanson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, St George\u2019s Healthcare NHS Trust, London SW7 0RE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah M.","family":"Ruddy","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Guy\u2019s Hospital, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UK VHL Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha","family":"Shah","sequence":"additional","affiliation":[{"name":"Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Sultana","sequence":"additional","affiliation":[{"name":"Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6297-2855","authenticated-orcid":false,"given":"Emma R.","family":"Woodward","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL and Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard N.","family":"Sandford","sequence":"additional","affiliation":[{"name":"Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1739-7986","authenticated-orcid":false,"given":"Katie M.","family":"Snape","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, St George\u2019s Healthcare NHS Trust, London SW7 0RE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6226-6918","authenticated-orcid":false,"given":"Eamonn R.","family":"Maher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/j.1365-2613.2007.00535.x","article-title":"Central nervous system capillary haemangioblastoma: The pathologist\u2019s viewpoint","volume":"88","author":"Hussein","year":"2007","journal-title":"Int. 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