Cryptic von Hippel-Lindau diseasegermline mutations in patients with haemangioblastoma only

Authors Organisations
  • F. J. Hes(Author)
    University Medical Centre, Utrecht
  • S. McKee(Author)
    Birmingham Women's Hospital
  • M. J. Taphoorn(Author)
    University Medical Centre, Utrecht
  • P. Rehal(Author)
    Birmingham Women's Hospital
  • R. B. van Der Luijt(Author)
    University Medical Centre, Utrecht
  • R McMahon(Author)
  • J. J. van Der Smagt(Author)
    Clinical Genetics Centre Leiden
  • D. Dow(Author)
    Addenbrooke's Hospital
  • R. A. Zewald(Author)
    University Medical Centre, Utrecht
  • J. Whittaker(Author)
    Addenbrooke's Hospital
  • C. J. Lips(Author)
    University Medical Centre, Utrecht
  • F. MacDonald(Author)
    Birmingham Women's Hospital
  • P. L. Pearson(Author)
    University Medical Centre, Utrecht
  • E. R. Maher(Author)
    University of Birmingham
Type Article
Original languageEnglish
Pages (from-to)939-943
Number of pages5
JournalJournal of Medical Genetics
Volume37
Issue number12
DOI
Publication statusPublished - Dec 2000
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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.

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