Central nervous system manifestations in VHL: genetics, pathology and clinical phenotypic features

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 d...

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Bibliographic Details
Published in:Familial cancer 2005-01, Vol.4 (1), p.37-42
Main Author: Glaesker, Sven
Format: Article
Language:English
Subjects:
Central Nervous System Neoplasms - etiology
Central Nervous System Neoplasms - genetics
Central Nervous System Neoplasms - physiopathology
Central Nervous System Neoplasms - surgery
Disease Progression
Hemangioblastoma - etiology
Hemangioblastoma - genetics
Hemangioblastoma - physiopathology
Hemangioblastoma - surgery
Humans
Phenotype
Prognosis
von Hippel-Lindau Disease - complications
von Hippel-Lindau Disease - genetics
von Hippel-Lindau Disease - physiopathology
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-004-5347-6