Abstract
Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients.
Original language | English |
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Pages (from-to) | 939-943 |
Number of pages | 5 |
Journal | Journal of Medical Genetics |
Volume | 37 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2000 |
Keywords
- Adolescent
- Adult
- Aged
- Central Nervous System Neoplasms
- Diagnosis, Differential
- Female
- Gene Frequency
- Germ-Line Mutation
- Hemangioblastoma
- Humans
- Male
- Middle Aged
- Morbidity
- Pedigree
- von Hippel-Lindau Disease