Haemangioblastoma of the posterior cranial fossa: clinico-neuropathological study.

Haemangioblastoma (HBs) may occur sporadically in the central nervous system, or in association with von Hippel-Lindau (VHL) disease. Haemangioblastoma of the central nervous system is often seen in the posterior cranial fossa. VHL is an autosomaly dominant disorder. In sporadic HBs tumours, VHL alleles are reported to be inactive in up to 50% of tumours. Five patients with tumours of the posterior cranial fossa were examined by scyntygrapghy, computed tomography or magnetic resonance imaging (MRI). Metastases were initially diagnosed by neuroimaging examinations in two patients, and HBs in the remaining cases. In four patients, tumours were removed neurosurgically. Two patients had evidence of VHL disease. All resected tumours and autopsy materials were studied histologically and immunohistologically. Most antibodies that were used showed positive immunoreactions with stromal, endothelial, and pericyte or macrophage cells in tumours diagnosed as haemangioblastoma. Preoperative diagnosis of haemangioblastoma is mostly precise with MRI or magnetic resonance angiograghy. The surgical treatment of HBs is only a part of the complex therapeutical process. Diagnosis based on the gene analysis can be very useful in early detection or protection against potential recurrence of this disease in patients and their families.