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

• Published in: Internal Medicine Vol. 45; no. 5; pp. 265 - 269
• Main Authors: Takahashi, Kentaro, Iida, Keiji, Okimura, Yasuhiko, Takahashi, Yutaka, Naito, Junko, Nishikawa, Shinichiro, Kadowaki, Seizo, Iguchi, Genzo, Kaji, Hidesuke, Chihara, Kazuo
• Format: Journal Article
• Language: English
• Published: The Japanese Society of Internal Medicine 2006
• Subjects: hemangioma; mutation; pheochromocytoma; von HippelLindau syndrome
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.45.1547

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.