Hemangioblastomas are rare, benign, highly vascularized tumors classified as WHO grade 1, primarily affecting the central nervous system. They most commonly occur in the cerebellum, followed by the spinal cord and brainstem. These tumors can be sporadic or associated with von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disorder that predisposes individuals to various tumors. Approximately 45% of people with VHL disease develop CNS hemangioblastomas, and an estimated 20% of those with CNS hemangioblastomas have concurrent VHL disease. Hemangioblastomas are uncommon, representing 1% to 2.5% of all brain tumors and 2% to 10% of spinal cord tumors, typically manifesting between the ages of 30 and 60, with a slight male predominance.
The clinical presentation of hemangioblastomas varies depending on their location and can significantly impact the quality of life. Cerebellar tumors often cause headaches, nausea, vomiting, and signs of increased intracranial pressure, while brainstem tumors can lead to motor and sensory deficits, ataxia, and potentially fatal hemorrhages. Spinal hemangioblastomas may result in localized pain, motor weakness, sensory disturbances, and bowel or bladder dysfunction.
Diagnosis is primarily made through magnetic resonance imaging, which typically reveals a cystic mass with an enhancing mural nodule. The primary treatment is surgical resection, with preoperative embolization sometimes necessary due to the tumor's vascularity. Stereotactic radiosurgery and novel agents targeting vascular endothelial growth factor pathways are emerging treatments for multiple or surgically inaccessible tumors. The prognosis after surgery is generally favorable, with low recurrence rates of less than 25%, although regular follow-up is crucial, especially in patients with VHL disease.
Copyright © 2025, StatPearls Publishing LLC.