[Frequent somatic mutations of the von Hippel-Lindau tumor suppressor gene in primary sporadic human renal clear cell carcinomas]
- PMID: 11798864
[Frequent somatic mutations of the von Hippel-Lindau tumor suppressor gene in primary sporadic human renal clear cell carcinomas]
Abstract
Objective: To investigate the mutation of Von Hippel-Lndau (VHL) tumor suppressor gene in patients with primary sporadic human renal cell carcinoma (RCC).
Methods: DNA samples from 20 primary sporadic renal clear carcinoma patients were analyzed by polymerase chain reaction, single strand conformational polymorphism analyses (PCR-SSCP) and direct sequencing.
Results: Somatic mutations of the VHL gene were detected in 11 (55%) of the 20 clear cell renal carcinomas, including 6 deletions, 2 insertions, and 3 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2 and 3 of the VHL gene.
Conclusion: The VHL gene may frequently mutate in Chinese patients with primary sporadic renal clear cell carcinoma. The VHL gene may be useful as a marker gene for the diagnosis of RCC and as a target gene for molecular therapy.
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