Abstract
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.
Original language | English |
---|---|
Article number | 1414 |
Journal | Genes |
Volume | 12 |
Issue number | 9 |
DOIs | |
Publication status | Published - 15 Sept 2021 |
Keywords
- Adolescent
- Adult
- Central Nervous System Neoplasms/diagnosis
- Cerebellar Neoplasms/diagnosis
- Clinical Audit
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Genetic Testing
- Germ-Line Mutation
- Hemangioblastoma/diagnosis
- History, 21st Century
- Humans
- Male
- Middle Aged
- Population Surveillance
- Retrospective Studies
- Risk Factors
- United Kingdom/epidemiology
- Von Hippel-Lindau Tumor Suppressor Protein/genetics
- Young Adult
- von Hippel-Lindau Disease/diagnosis