Hemangioblastoma
Hemangioblastoma is a benign (WHO grade 1) vascular tumor of the central nervous system. It occurs most often in the cerebellum and is one of the more common adult posterior fossa tumors. About a quarter of cases are associated with the inherited Von Hippel-Lindau (VHL) disease. Complete surgical removal is curative in most cases.
Laatst bijgewerkt: 2026-06-07
Definition
Hemangioblastoma is a benign vascular tumor made up of stromal cells surrounded by a rich capillary network. It is classified as WHO grade 1 and does not undergo malignant transformation. It commonly has a characteristic cystic-nodular form, consisting of a cyst with a contrast-enhancing mural nodule in its wall; a proportion are entirely solid.
Epidemiology and Location
Hemangioblastoma accounts for a small fraction of all intracranial tumors but is among the more frequent adult posterior fossa tumors. It usually presents in the fourth decade—earlier in VHL-related cases—and shows a slight male predominance. The great majority arise in the posterior fossa (especially the cerebellar hemispheres and vermis); a subset occurs in the spinal cord (most often cervical and intramedullary) and, more rarely, in the supratentorial compartment.
Association with Von Hippel-Lindau Disease
About 25-30% of cases are associated with Von Hippel-Lindau (VHL) disease, an autosomal dominant condition caused by mutation of the VHL tumor suppressor gene on chromosome 3p25-26. This mutation leads to unchecked activation of the HIF (hypoxia-inducible factor) pathway and overproduction of pro-angiogenic factors such as VEGF. In VHL patients, hemangioblastomas are often multiple and appear at a younger age; other organ involvement may coexist, including retinal angioma, renal cell carcinoma (the leading cause of mortality), pheochromocytoma and pancreatic tumors. Genetic counseling and multi-organ surveillance are therefore important after diagnosis.
Symptoms
Symptoms depend on tumor location and its effect on intracranial pressure. Cerebellar tumors may cause ataxia, dizziness, dysmetria and nystagmus, together with headache, nausea and vomiting from raised intracranial pressure due to hydrocephalus. Spinal lesions can produce pain, weakness, numbness and bladder-bowel dysfunction. In some cases the tumor secretes erythropoietin, leading to an increased red cell count (polycythemia).
Diagnosis
Contrast-enhanced brain MRI—and spinal MRI when indicated—is the gold standard. The classic finding is a cystic mass with a strongly enhancing mural nodule; solid tumors show flow voids reflecting their rich vascularity. MR angiography depicts the feeding and draining vessels and aids surgical planning. Digital subtraction angiography (DSA) may be performed before surgery in large, highly vascular tumors. Definitive diagnosis is histopathological; immunohistochemistry is positive for endothelial markers (CD31, CD34) and negative for the glial marker GFAP. Genetic evaluation for VHL is advised when there are multiple lesions or a young age at presentation.
Treatment Options
Because it is benign, complete surgical resection is curative in most cases; the key principle is removal of the entire enhancing nodule. Preoperative embolization may be used in large, highly vascular tumors to reduce intraoperative bleeding. Stereotactic radiosurgery (Gamma Knife, CyberKnife) is effective for surgically high-risk, deep-seated or small residual/recurrent lesions. For multiple small, asymptomatic VHL-related lesions, active surveillance with periodic MRI (watch-and-wait) is preferred. In VHL-related, surgically unsuitable widespread disease, systemic therapy targeting the HIF-2α pathway may be used.
Prognosis
For sporadic, completely resected hemangioblastomas, long-term outcomes are generally good with a low recurrence rate. In VHL-related cases, the main issue is the development of new lesions rather than recurrence of the treated tumor, so lifelong follow-up is required. In VHL patients, associated renal cell carcinoma is the most important determinant of overall survival. Care is planned by a multidisciplinary team; outcomes vary from patient to patient and no outcome can be guaranteed.
Bronnen
- Greenberg MS. Greenberg's Handbook of Neurosurgery. 10th ed. Thieme; 2023:823.
- Osborn AG, Hedlund GL, Salzman KL. Osborn's Brain: Imaging, Pathology, and Anatomy. 2nd ed. Elsevier; 2018:690.
- Louis DN, et al. The 2021 WHO Classification of Tumors of the Central Nervous System. Neuro Oncol. 2021.
- Binderup MLM, et al. von Hippel-Lindau disease: Updated surveillance guidelines. Clin Genet. 2022.
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