gms | German Medical Science

59. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
3. Joint Meeting mit der Italienischen Gesellschaft für Neurochirurgie (SINch)

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

01. - 04.06.2008, Würzburg

Hemangioblastomas of central nervous system: Molecular genetic analysis and clinical management

Meeting Abstract

  • corresponding author D. Catapano - Neurosurgical Department, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy
  • L. A. Muscarella - Medical Genetic Service, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy
  • V. Guarnieri - Medical Genetic Service, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy
  • L. Zelante - Medical Genetic Service, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy
  • L. D’Agruma - Medical Genetic Service, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy
  • V. D’Angelo - Neurosurgical Department, “Casa Sollievo Sofferenza” Hospital and Scientific Research Institute, S. Giovanni Rotondo, Italy

Deutsche Gesellschaft für Neurochirurgie. Società Italiana di Neurochirurgia. 59. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie e.V. (DGNC), 3. Joint Meeting mit der Italienischen Gesellschaft für Neurochirurgie (SINch). Würzburg, 01.-04.06.2008. Düsseldorf: German Medical Science GMS Publishing House; 2008. DocP 076

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/dgnc2008/08dgnc344.shtml

Veröffentlicht: 30. Mai 2008

© 2008 Catapano et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective: Hemangioblastomas of the central nervous system (CNS) are benign neoplasms that may occur sporadically or in association with von Hippel-Lindau (VHL) disease. The proportion of primary symptomatic hemangioblastomas associated to VHL disease is estimated from 10% to 40% but it seems to be underestimated. We investigated the frequency of VHL germline mutation in patients with symptomatic CNS hemangioblastoma without evidence of VHL disease to define the role of molecular genetic analysis in the management of such patient and their relatives.

Methods: We have analized 22 patients (11 female and 11 male; mean age 45 years), without family history and no other clinical manifestations of VLH disease, operated on for symptomatic CNS hemangioblastoma. The exon 1, 2, and 3 of the VHL gene and their immediately flanking sequences were amplified using polymerase chain reaction (PCR) followed by analysis and sequencing the anomalous samples.

Results: Germline mutations of the VHL gene were identified in 3/22 (14%) patients. VHL gene mutation analysis was performed in patients family members showing other affected asymptomatic subject for VHL disease. The affected subjects were recommendated for VHL disease surveillance protocol.

Conclusions: The molecular genetic analysis is a safer and more specific instrument to confirm or exclude VHL disease in patients with CNS hemangioblastoma, negative family history or absence of other known manifestation of the disease. Early identification of VHL mutation gene-carriers is important for reducing disease morbidity and mortality. Non symptomatic family members will benefit from early VHL disease diagnosis or by excluding them as at-risk subjects, reducing psychological and economical burden of screening and surveillance protocol.