Szymaś J

Surgical treatment of symptomatic vertebral haemangiomas

BACKGROUND AND PURPOSE Vertebral haemangiomas are relatively common, benign vascular lesions; symptomatic ones that cause spinal cord compression are rare, however. Only 0.9-1.2% of all vertebral haemangiomas are symptomatic. The aim of the paper is to present indications, operative techniques and stabilization methods in patients with symptomatic vertebral haemangiomas. MATERIAL AND METHODS Clinical analysis included 7 patients treated between 1995 and 2007. There were 4 females and 3 males, aged 24 to 63 yrs (average age 44 yrs). Symptomatic vertebral haemangiomas were diagnosed on the basis of neuroradiological studies. Surgery was applied in all cases. Implantation of internal stabilization followed vertebral haemangioma resection. RESULTS Localization of vertebral haemangiomas included 1 case in the cervical, 5 cases in the thoracic and 1 case in the lumbar segment of the vertebral column. Symptoms of medulla compression were observed in 7 patients. Neurological symptoms were caused usually by hypertrophy or ballooning of the posterior cortex of the vertebral body into the vertebral canal. The anterior surgical approach was carried out in 2 cases, posterolateral in 3 cases and posterior in 2 cases. Spinal stability was secured by various implant systems and autogenic bone grafts. Bone defects in the vertebral body were filled with acrylic cement in 4 patients. In histological examinations, cavernous types were found in all patients. Neurological condition improved after the treatment in 5 patients. CONCLUSIONS No standard therapy exists for symptomatic thoracic vertebral haemangiomas. However, immediate surgical intervention is necessary in cases with acute compressive myelopathy before the symptoms become irreversible.

Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families.