Genes, Vol. 12, Pages 1414: Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel –Lindau Disease

Genes, Vol. 12, Pages 1414: Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease Genes doi: 10.3390/genes12091414 Authors: Hugh Furness Louay Salfity Johanna Devereux Dorothy Halliday Helen Hanson Deborah M. Ruddy UK VHL Study Group UK VHL Study Group Neha Shah George Sultana Emma R. Woodward Richard N. Sandford Katie M. Snape Eamonn R. Maher 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 examinat...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research