1995 Fiscal Year Final Research Report Summary
Mutational Analysis of the VHL Tumor Suppressor Gene in Sporadic Renal Cell Carcinoma
| Project/Area Number |
06671605
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Urology
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| Research Institution | Yokohama City University |
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Principal Investigator |
YAO Masahiro Yokohama City University School of medicine, Fuculty Staff, 医学部, 助手 (00260787)
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| Co-Investigator(Kenkyū-buntansha) |
HOSAKA Masahiko Yokohama City University School of medicine, Professor, 医学部, 教授 (30106330)
KUBOTA Yoshinobu Yokohama City University School of medicine, Associate Professor, 医学部, 助教授 (10106312)
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| Project Period (FY) |
1994 – 1995
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| Keywords | carcinoma / rsnal cell / VHL / tumor suppressor gene |
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| Research Abstract |
We analyzed 47 sporadic renal cell carcinomas for somatic mutations of the von Hippel-Lindau(VHL)tumor suppressor gene by PCR-SSCP and sequencing analyzes. Intragenic mutations were detected in 22 of 47 cases including 15 deeletions, 3 insertions, 3 missense mutations and 1 nonsense mutation. These mutations were observed exclusively in clear-cell type renal carcinomas according to the Thoenes' classification. Ninteen of these mutations predicted to produce truncation of the VHL protein. In addition loss of heterozygosity(LOH)of the VHL gene was observed in 16 of 19 informative clear-cell renal carcinomas. We also found somatic mutations of the VHL gene in sporadic central nervous system(CNS)hemangioblastomas. These results show that the VHL gene is one of the major tumor suppressor genes both in clear-cell type renal carcinomas and in CNS hemangioblastomas. Molecular genetic analyzes will provide useful informations for diagnosis of these tumors.
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