Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

F. J. Hes, S. McKee, M. J. Taphoorn, P. Rehal, R. B. van Der Luijt, R McMahon, J. J. van Der Smagt, D. Dow, R. A. Zewald, J. Whittaker, C. J. Lips, F. MacDonald, P. L. Pearson, E. R. Maher

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)939-943
Number of pages5
JournalJournal of Medical Genetics
Volume37
Issue number12
DOIs
Publication statusPublished - 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

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