1996 Fiscal Year Final Research Report Summary
International study of von Hippel-Lindau disease
| Project/Area Number |
08042009
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| Research Category |
Grant-in-Aid for international Scientific Research
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| Allocation Type | Single-year Grants |
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| Section | Special Cancer Research |
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| Research Institution | Kochi Meidcal School |
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Principal Investigator |
SHUIN Tarou Kochi Medical School, Department of Urology, Professor, 医学部, 教授 (80179019)
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| 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)
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| Project Period (FY) |
1996
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| Keywords | von Hippel-Lindau disease / genetic diagnosis / genetic counseling |
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| 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.
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