A novel mutation in the von Hippel-Lindau tumor suppressor gene identified in a Japanese family with pheochromocytoma and hepatic hemangioma.

ABSTRACT

Von Hippel-Lindau (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 gene-disrupted mouse models. A heterozygous VHL gene-disrupted 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.