[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.