VHL病に伴う中枢神経系血管芽腫

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  • Craniospinal Hemangioblastoma associated with Von Hippel-Lindau Disease Review

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  Von Hippel-Lindau (VHL) disease is neoplastic syndrome that affects multiple organ systems. Most patients with this disease (60-80%) harbor hemangioblastomas and neurosurgeons often treat craniospinal hemangioblastomas in these patients. VHL disease is transmitted across generations in an autosomal dominant manner ; its incidence is 1 in 36,000. The VHL tumor suppressor gene is located on chromosome 3 (3p25) and encodes for the VHL protein, which complexes with several proteins involved in the ubiquitin-dependent proteolysis of hypoxia-inducing factor (HIF). The VHL protein appears to have several functionas and its dysregulation leads to angiogenesis and tumorigenesis. As most patients with VHL disease harbor central nervous system (CNS) hemangioblastomas, their management must be optimized to minimize morbidity and mortality. Although patients with VHL disease harbor not only CNS neoplasm but also cysts and/or neoplasms in other organs, in our study we reviewed the features of and the management strategies for only cranio-spinal hemangioblastomas in patients with VHL disease.

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