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[Microsatellite instability in renal cell carcinoma and its mechanisms]
1Department of Urology, First Hospital, Institute of Urology, Beijing Medical University, Beijing 100034, China.
Objective:
To study the expression of microsatellite instability (MSI) in renal cell carcinoma (RCC) and its relationship with gene mutation.
Methods:
Tumor samples from 34 patients with RCC were analyzed for MSI by PCR. RT-PCR was used to evaluate the expression of mRNA of 5 human mismatch repair (MMR) genes in RCC and RCC cell lines. Mutation of hMLH1 gene coding regions was detected by PCR-SSCP. PCR was used to check the mutations of TGF-beta R II gene and BAX gene in 15 MSI-positive samples of RCC.
Results:
Microsatellite changes were detected in 15 of 34 patients with RCC (44.1%). It might be associated with the progression of this disease. There were 3 of 15 MSI-positive RCC cases without expression of MMR gene hMLH1, and in 3 of 15 cases its expression was decreased. All 5 MMR genes were expressed in normal and RCC 949 cell line. There were three mutations in 15 MSI-positive cases. Frame shift mutation of TGF beta R II gene and BAX gene was found in 6 and 4 of the 15 cases with MSI, respectively, but it was not found in MSI-negative RCC and normal tissue.
Conclusion:
MSI and expression of MMR genes are associated events in RCC. The effect of gene mutation on tumorgenerasis may be related to MSI.