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

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概要

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• 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.

著者

• Takahashi Yutaka

  Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr

• TAKAHASHI KENTARO

  Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University

• Kaji Hidesuke

  Division of Physiology&Metabolism, University of Hyogo

• Nishikawa Shinichiro

  Division Of Hematology Department Of Medicine Kobe University Graduate School Of Medicine

• Iguchi Genzo

  Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr

• Okimura Yasuhiko

  Department Of Basic Allied Medicine Kobe University School Of Medicine

• Iida Keiji

  Division Of Diabetes And Endocrinology Hyogo Prefectural Kakogawa Medical Center

• Chihara Kazuo

  Division Of Diabetes And Endocrinology Hyogo Prefectural Kakogawa Medical Center

• Naito Junko

  Division Of Diabetes And Endocrinology Department Of Internal Medicine Kobe University Graduate Scho

• Iida Keiji

  Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine

• Chihara Kazuo

  Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine

• Kadowaki Seizo

  Ono City General Hospital Ono

• Naito Junko

  Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine

• Takahashi Kentaro

  Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine

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