Ricerc@Sapienza

The analysis of cancer genomic alterations in circulating tumor DNA (ctDNA) is rapidly developing as a platform for biomarker in patients with solid tumors. Very recent data indicate advantages in assessing urine and plasma for the analysis of mutant-DNA in muscle invasive bladder cancer (NMIBC). Different potential applications of ctDNA analysis in patients with different bladder cancer disease states might be envisaged. The direct comparison of peripheral sample types revealed that urinary samples are enriched in mutant-DNA as compared to plasma. In NMIBC patients, due to tumor localization, urinary samples might be enriched in mutant-DNA, thus increasing the sensitivity of mutant-DNA detection and bringing urinary mutant-DNA one step closer to clinical application. Advances in molecular biology techniques have allowed a better understanding of the pathways involved in BC pathogenesis and heterogeneity. NMIBC and MIBC are largely believed to develop secondary to different molecular alterations (KDM6A and FGFR3, TP53 and KMT2D respectively). Comprehensive characterization of tumor-specific DNA isolated from urine in non-metastatic bladder cancer might help in investigating alterations involved in bladder pathogenesis at the DNA level and determining the sequence of mutations implicated in tumor development and progression.