Abstract

“VON HIPPEL LINDAU SYNDROME: AN OVERVIEW”

Sachin B. Somwanshi*, Mohini Landge, Kiran B. Kotade, Kiran B. Dhamak

ABSTRACT

Von Hippel Lindau (VHL) syndrome, or von Hippel Lindau disease is a hereditary rare genetic disorder associated with hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. Von Hippel Lindau are originally described in 1911. The most recent developments have followed the identification of the VHL gene, first located on chromosome 3p25–26. The VHL gene (VHL) codes for a protein (pVHL) that is being widely investigated because of its apparent role in oxygen sensing and its link to stimulation of tumor angiogenesis through interaction with hypoxia-inducible factors and other proteins. This condition causes development of benign and malignant tumors in the central nervous system and the internal organs; tumors caused by VHL mutation include hemangioblastomas in the cerebellum, spinal cord, brain stem and retina, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic carcinoma, positional vertigo, slurred Speech, nystagmusa intellectual disability. The treatment for CNS hemangioblastoma is basically by surgery, but occasionally by radiation, mainly stereotaxic irradiation. The degree of difficulty of treatment for this CNS tumor depends on its location. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of gene in some cells leading to the feature of Von Hippel Lindau syndrome. In this review, we summarize the recent literatures on the pathogenesis, clinical characteristics, diagnosis and treatment of VHL disease.

Keywords: Von Hippel Lindau, Hemangioblastoma, Tumor, Pheochromocytoma, diagnosis and treatment.