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12
Author: Suzuki, H.; Ueda, T.; Komiya, A.; Okano, T.; Isaka, S.; Shimazaki,
J.; Ito, H.
Year: 1997
Title: Mutational state of von Hippel-Lindau and adenomatous polyposis
coli genes in renal tumors
Journal: Oncology
Volume: 54
Issue: 3
Pages: 252-7
Label: 97288430
Keywords: Adenomatous Polyposis Coli/*genetics
Aged
Carcinoma, Renal Cell/*genetics
Caucasoid Race/genetics
Hippel-Lindau Disease/*genetics
Human
Kidney Neoplasms/*genetics
Middle Age
Mongoloid Race/genetics
*Mutation
Polymerase Chain Reaction/methods
Abstract: Genetic alterations of the von Hippel-Lindau (VHL) tumor suppressor
gene and the adenomatous polyposis coli (APC) gene in renal tumors
were examined by PCR-SSCP analysis and direct sequencing. Tissues
from 58 primary sporadic human renal cell tumors (49 clear-cell
carcinomas, 6 non-clear-cell carcinomas and 3 oncocytomas) from
Japanese patients were used in this study. Somatic VHL mutations
were detected in 26 (53%) of the clear-cell carcinomas, although
no mutations in this gene were observed in any non-clear-cell
carcinomas or oncocytomas. The frequency of mutations did not
correlate with histological grade, clinical stage or any of several
other clinical factors examined. No differences in the frequency
of VHL mutations or in the exons where mutations occurred within
the gene were evident when we compared our results with those
reported for American patients. However, frameshifts were more
common in our Japanese panel of tumors than in American cases,
where single-point mutations appear to be more frequent. No APC
gene mutation was detected in any of our samples. These results
indicate that VHL gene mutations are related to the carcinogenesis
of the clear-cell type of primary renal cell carcinomas, whereas
alteration of the APC gene is not involved in the pathogenesis
of this cancer.