Objectives: To assess and characterize mutations in the vhl gene in tumor tissue samples from 30 patients undergoing surgery for renal cell carcinoma in our department.
Methods: Descriptive, observational and analytical study of 30 patients undergoing surgery for RCC, analyzing the vhl gene sequence in tumor tissue, and using healthy renal tissue from the same patients as controls. Tissues were processed by DNA extraction, PCR amplification of the three exons that conform the gene, and ulterior automatic sequence analysis of the amplified exons between intronic primers previously designed. The sequence is compared with the corresponding exons included in the GeneBank. Alterations were checked by backwards sequence analysis.
Results: 9 mutations (30%) were found in the tumoral samples analyzed. 7 of them were punctual (one of them intronic); the other two were deletions. Mutations were distributed among the three exons: 3 in exon 1, 4 in exon 2, 1 in exon 3 and 1 intronic. One of the samples showed 2 mutations. Control tissue was free of mutations.
Conclusions: Sporadic RCC shows mutations in the vhl gene which mainly appear in the clear cell subtype. Such alterations result in severe disturbances in the protein, disturbing its tumor suppressing function.