International Journal of Clinical Oncology

, Volume 9, Issue 4, pp 283–287

Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease

  • Taro Shuin
  • Ichiro Yamazaki
  • Kenji Tamura
  • Masayuki Kamada
  • Shingo Ashida
REVIEW ARTICLE

DOI: 10.1007/s10147-004-0415-3

Cite this article as:
Shuin, T., Yamazaki, I., Tamura, K. et al. Int J Clin Oncol (2004) 9: 283. doi:10.1007/s10147-004-0415-3

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with various tumors and cysts in the central nervous system (CNS) and visceral organs. Inactivation of the VHL tumor-suppressor protein and subsequent loss of function in the VHL, and Elongin BC (VBC) complex result in dysfunction in the ubiquitination of hypoxia-inducible factor (HIF), which is an important step in the development of angiogenic tumors. The most frequent disorders in VHL disease are hemangioblastoma in the CNS and retina, pheochromocytoma in the adrenal gland, renal cell carcinoma, and pancreatic neuroendocrine tumor. Here, we review recent ideas on the pathogenesis and clinical diagnosis and treatment of VHL disease. Progress in molecular diagnosis and molecular targeting therapy is expected for improvement in the diagnosis and treatment of this disease. The family’s support for patients with VHL disease is important, being mutually helpful to overcome various social and psychological problems in the patients.

Key words

Von Hippel Lindau disease Hemangio blastoma Renal cell carcinoma Pheochromocytoma VHL protein Hypoxia inducible factor 

Copyright information

© The Japan Society of Clinical Oncology 2004

Authors and Affiliations

  • Taro Shuin
    • 1
  • Ichiro Yamazaki
    • 1
  • Kenji Tamura
    • 1
  • Masayuki Kamada
    • 1
  • Shingo Ashida
    • 1
  1. 1.Department of UrologyKochi Medical SchoolKochiJapan

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