A Novel Mutation in the von HippelLindau Tumor Suppressor Gene Identified in a Japanese Family with Pheochromocytoma and Hepatic Hemangioma

Abstract

Von HippelLindau (VHL) syndrome is a neoplastic syndrome caused by a mutation in the VHL gene. There is a discrepancy between the phenotypes of human VHL syndrome and VHL genedisrupted mouse models. A heterozygous VHL genedisrupted model (vhl +/-) developed hepatic vascular lesions; in contrast, hepatic hemangioma is a rare manifestation of human VHL syndrome. We identified a novel mutation (P154S) in the VHL gene in a Japanese family with pheochromocytoma. One of the members demonstrated hepatic hemangiomas, suggesting that there may be a relationship between the mutation of the VHL gene and hepatic vascular lesions, even in humans.