Hemangioblastoma

Edward J Dropcho MD (Dr. Dropcho of Indiana University Medical Center has no relevant financial relationships to disclose.)
Originally released February 17, 1999; last updated April 6, 2014; expires April 6, 2017

This article includes discussion of hemangioblastoma, sporadic hemangioblastoma, and capillary hemangioblastoma. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Hemangioblastoma is a relatively uncommon tumor that most often arises in the cerebellum, brainstem, or spinal cord. Hemangioblastomas usually occur sporadically as a single lesion and also occur as multiple tumors in persons with von Hippel-Lindau disease. The mainstay of treatment for hemangioblastoma continues to be surgical resection. Stereotactic radiosurgery is increasingly used in selective situations. In addition, discoveries of the molecular genetics of hemangioblastoma should eventually lead to molecularly targeted therapies. In this article, the author reviews the clinical features, molecular genetics, and current therapies for hemangioblastoma.

Key points

• Hemangioblastomas most often arise in the cerebellum, brainstem, and spinal cord.

• Up to one third of patients with hemangioblastoma have von Hippel-Lindau disease whereas at least two thirds of persons with von Hippel-Lindau disease develop 1 or more hemangioblastomas over their lifetime.

• All patients presenting with a hemangioblastoma should be evaluated for von Hippel-Lindau disease.

• Treatment options for sporadically occurring hemangioblastoma or for symptomatic hemangioblastoma in von Hippel-Lindau disease patients include surgical resection or radiation therapy (usually stereotactic radiosurgery) in selected patients.

Historical note and terminology

Hughlings Jackson described the index case of cerebellar hemangioblastoma in 1872 (Jackson 1872). In 1904, Eugen von Hippel described the histology of retinal hemangioblastoma and recognized its familial occurrence (von Hippel 1904). Arvid Lindau in 1926 reported the combination of hemangioblastomas of the retina and central nervous system with other systemic lesions as a unified familial disease process (Lindau 1926). The classic paper by Melmon and Rosen in 1964 reviewed a large kindred with the disorder they codified as "von Hippel-Lindau disease" (Melmon and Rosen 1964). The genetic linkage of von Hippel-Lindau disease to chromosome 3p was established in the 1970s and 1980s. The von Hippel-Lindau disease gene was identified and cloned in 1993 (Latif et al 1993).

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