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International study of von Hippel-Lindau disease

Research Project

Project/Area Number 08042009
Research Category

Grant-in-Aid for international Scientific Research

Allocation TypeSingle-year Grants
SectionSpecial Cancer Research
Research InstitutionKochi Meidcal School

Principal Investigator

SHUIN Tarou  Kochi Medical School, Department of Urology, Professor, 医学部, 教授 (80179019)

Co-Investigator(Kenkyū-buntansha) NEUMANN Hermut  University of Freiburg, Department of internal Medicine, Professor, 医学部, 教授
ZABAR Berton  National Cancer Institute, Frederic USA, Laboratory of Immunobiology, Chief, 所長室長
YAO Masahiro  Yokohama City University School of Medicine, Department of Urology, Assistant Professor, 医学部, 講師 (00260787)
MAHER Eamonn  英国ケンブリッジ大学, 医学部, 教授
NEUMAN Hartm  ドイツ国フライブルグ大学, 医学部, 教授
HSLA Edward  米国ハワイ大学, 医学部, 教授
GLENN Ghragy  米国ベセスダ癌センター病院, 泌尿器系腫瘍部, 部長
LINEHAN Mars  米国ベセスダ癌センター病院, 泌尿器系腫瘍部, 部長
降播 睦夫  高地医科大学, 医学部, 助手 (10209158)
長嶋 洋治  横浜市立大学, 医学部, 講師 (10217995)
大野 茂男  横浜市立大学, 医学部, 教授 (10142027)
Project Period (FY) 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 1996: ¥3,400,000 (Direct Cost: ¥3,400,000)
Keywordsvon Hippel-Lindau disease / genetic diagnosis / genetic counseling / 遺伝性腫瘍
Research Abstract

Von Hippel-Lindau disease is a hereditary multitumor syndrome that have hemangioblastoma of the central nervous system, hemangioma of the retina pheochromocytoma of the adrenal gland and renal cell carcinoma in its major manifestation. Renal cell carcinoma is one of the major fatal disease for death. It is estimated that there are more than 150 family ( more than 1000 patients) in' Japan according to the Japanese population and previous literatures. The manifestation of this disease is different depending on each family. The specific feature of the germline mutations well as the clinical feature of this disease is not well known in our country. The purpose of the present study is to clarify the clinical and genetic feature of this disease in Japan. Another aim of this study is to build up better system for clinical diagnosis and follow up of patients in Japan.
In the present project, especially in the clinical part of this study, we communicated with the basic investigators of this disease and clinical staffs taking care of this disease in US and Germany to understand the American or European system. We could introduce a better part of their system into our country. We could understand the importance of the genetic diagnosis and how to utilize the genetic diagnosis and genetic counseling in the whole procedure of clinical approach for the VHL disease. In the basic part four study, we clarified the specific genetic feature in this disease in this country. . We also showed the expression of VHL gene in tl fetal brain, kidney or prostate to understand the VHL protein in the human fetal development. We are gradually setting up a better system for clinical and genetic diagnosis as well as up a better system for genetic counseling in this disease in Japan.

Report

(2 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • Research Products

    (10 results)

All Other

All Publications (10 results)

  • [Publications] Berton Zbar: "Germline mutation in the VHL disease gene in families from North America, Europe, and Japan"Human Mutation. 8. 348-357 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yoji Nagashima: "VHL tumor suppressor gene. Localization of expression by in situ hybridzation"Journal of Pathology. 180. 271-274 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 執印太郎: "VHL病の臨床診断とDNA診断について-世界のVHL病診断の現状と日本国内の状況について"臨床泌尿器科. 50. 907-913 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Berton Zbar, Hermut P.H. Neumaun, SHUIN,Taro et al.: "Germiline mutation in the VHL disease gene in families from North America, Europe, and Japan"Human Mutation. 8. 348-357 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] NAGASHIMA,Youji, SHUIN,Taro: "VHL tumor suppressor gene. Localization of expression by in situ hybridization"Journal of Pathology. 180. 271-274 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] SHUIN,Tro: "Clinical and genetic diagnosis of VHL disease: Comparison of clinical systems between Japanese and European countries"Rinsho Hinyokika. 50(in Japanese). 907-913 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yooji Nagashima,Taro Shuin et al.: "Von Hippel-Lindau tumor suppressor gene. Localization of expression by in situ hybridization." Journal of Pathology. 180. 271-274 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Hiroshi Kanno,Taro Shuin et al.: "Molecular Genetic Diagnosis of von Hippel-Lindau disease : Analysis of Five Japanese families." Jpn.J.Cancer Res.87. 432-428 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 執印太郎、矢尾正祐: "遺伝子病マニュアル「von hippel-Lindau病」" 中山書店, 399 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 執印太郎、矢尾正祐: "Annual Review 腎臓 von Hippel-Lindau病遺伝子" 内外医学社, 247 (1996)

    • Related Report
      1996 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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