Document Detail

Central nervous system manifestations in VHL: genetics, pathology and clinical phenotypic features.
MedLine Citation:
PMID:  15883708     Owner:  NLM     Status:  MEDLINE    
This review focuses on CNS hemangioblastomas in von Hippel-Lindau (VHL) disease. The pathogenesis of these lesions remains unclear to date; however, biallelic inactivation of the VHL tumor suppressor gene is thought to be an important step. These benign tumors occur frequently in patients with VHL disease and produce symptoms by mass effect either by the tumor itself or an accompanying cyst or edema. Furthermore, cases of spontaneous hemorrhage have been described. Genetic testing for VHL germline mutations is recommended in all patients with hemangioblastoma and yearly screening, including MRI of the brain and spine, is recommended for all VHL disease patients. Treatment of these tumors is mainly surgical. In general, surgery is indicated in symptomatic hemangioblastomas and eventually also in asymptomatic tumors that exhibit radiographic progression. However, since most VHL disease patients harbor multiple lesions, a careful individual decision must be made in each case. The tumors can usually be completely removed by dissection in the plane between tumor and CNS tissue and coagulating and cutting of the numerous feeding vessels with low power. As long as consequent yearly surveillance is performed and lesions are adequately treated in time, the prognosis of CNS hemangioblastomas in VHL disease is good. Preoperative neurological deficit, however, will not improve after surgery in most patients. Local tumor recurrences are rare.
Sven Gläsker
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Familial cancer     Volume:  4     ISSN:  1389-9600     ISO Abbreviation:  Fam. Cancer     Publication Date:  2005  
Date Detail:
Created Date:  2005-05-10     Completed Date:  2005-09-13     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  37-42     Citation Subset:  IM    
Department of Neurosurgery, Albert-Ludwigs-University, 79106 Freiburg, Germany.
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MeSH Terms
Central Nervous System Neoplasms / etiology*,  genetics*,  physiopathology,  surgery
Disease Progression
Hemangioblastoma / etiology*,  genetics*,  physiopathology,  surgery
von Hippel-Lindau Disease / complications*,  genetics*,  physiopathology

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