Artikel
Hemangioblastomas of central nervous system: Molecular genetic analysis and clinical management
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Veröffentlicht: | 30. Mai 2008 |
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Gliederung
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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.