Radiology Quiz 19509 | Radiopaedia.org

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How do cord haemangioblastomas typically present clinically?

Clinical presentation is similar to that of other intramedullary spinal tumours, with pain, weakness and sensory changes common. Rarely, spinal hemangioblastomas may cause subarachnoid haemorrhage or hematomyelia. Polycythaemia due to erythropoietin secretion is reported but rare.

Question 2

With what phakomatosis are haemangioblastomas associated, and how often is this the case?

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One third of patients with haemangioblastomas (not just spinal) have von Hippel-Lindau syndrome and typically these patients present earlier with multiple tumours.

Question 3

What is the genetic underpinning of vHL disease?

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The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However no mutation is identified in up to 30% of cases.

MICROSCOPIC DESCRIPTION: Paraffin sections show a moderately hypercellular, intensely vascular tumour. This is composed of cells with moderately pleomorphic round oval and angulated hyperchromatic nuclei and a variable amount of pale and foamy cytoplasm. These are arranged in diffuse sheets as well as lobules which are enclosed by thin-walled capillaries. Vascular spaces vary from large calibre thin-walled sinusoidal structures to capillaries. A very occasional mitotic figure is identified in tumour cells. No areas of necrosis are seen. Tumour is attached to dense collagenous tissue consistent with meninges.

Immunohistochemistry shows strong staining of vascular endothelium for CD34. No reactivity for GFAP, CD34 or cytokeratrin AE1/AE3 is seen in tumour cells. The features are of capillary haemangioblastoma.

FINAL DIAGNOSIS: Capillary haemangioblastoma.