Integrated Genetic Analysis of Allelic Imbalance and FGFR3 Mutation by SNP-based Pyrosequencing in Urothelial Cancer

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In this study, we refer to the rapid and quantitative analytical methods in urine samples, a SNP-based pyrosequencing (PSQ) targeting regions of LOHs on 9p, 9q, 17p, and also exon 7, 10 which are hotspots of FGFR3 mutations. Material and Methods: A total of 7 markers were designed to amplify targeting SNP regions on 9p, 9q and 17p. And 2 markers were designed to validate FGFR3 sequence including 2 point mutated hotspot in each marker in exon 7 and 10. Results: A total of 116 UC samples are analyzed. In the tissue analysis, 85.0% of UC showed either LOH or FGFR3 mutation. In the analysis of urine sediments, 75.0% of urine obtained from UC patients’ showed genetic alterations. Urine cytology could detect only 44.0% of UCs in the same cohort. No genetic alterations were detected in 20 healthy urine sediments. Conclusions: PSQ were the feasible assay for detect genetic alterations such as LOH and point mutation from small cancer cell populations.