Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease

Hemangioblastomas of the cerebellum, brainstem and spinal cord are frequent tumors in patients with von Hippel-Lindau (VHL) disease. Rarely, these lesions also affect the cerebrum. Patients often have multiple lesions, many of which are associated with cysts or syrinx. The current treatment for symptomatic lesions is surgical resection. Focused radiation is also being used in selected cases in an attempt to provide tumor control. The natural history of central nervous system (CNS) lesions in patients with VHL has not been addressed in a prospective study. It is not clear at which point these lesions will begin to grow, or develop cysts in the cerebellum or syrinx in the spinal cord, and systemic factors that influence tumor growth have not been identified. By identifying factors that predict or influence tumor progression or cyst development, we can more accurately recommend surgical or medical intervention at appropriate times and avoid unnecessary treatment for stable lesions. This study will collect prospective radiological and clinical data on growth of the central nervous system (CNS) hemangioblastomas and associated cysts. We will also prospectively collect information on systemic processes that may influence tumor progression, such as puberty, menopause, pregnancy, effects of hormone therapy, tumor load, serum erythropoeitin level and hemoglobin/hematocrit levels.

This natural history study has resulted in significant improvement in our understanding of the pathophysiology of VHL disease. Data from this study have resulted in a better understanding of the origin and growth patterns of hemangioblastomas, and endolymphatic sac tumors in patients with VHL disease. New therapies targeting hemangioblastomas in VHL disease are being devised based on information gathered from this study. We expect this natural history disease to continue to inspire new hypothesis driven studies while improving the understanding and management of hemangioblastomas in VHL disease.