Genomic Characterization of Upper Tract Urothelial Carcinoma

摘要: Abstract Background Despite a similar histologic appearance, upper tract urothelial carcinoma (UTUC) and of the bladder (UCB) tumors have distinct epidemiologic clinicopathologic differences. Objective To investigate whether differences between UTUC UCB result from intrinsic biological diversity. Design, setting, participants Tumor germline DNA patients with ( n =83) =102) were analyzed using custom next-generation sequencing assay to identify somatic mutations copy number alterations in 300 cancer-associated genes. Outcome measurements statistical analysis We described co-mutation patterns UTUC. also compared mutation frequencies high-grade =59) =102). Results limitations Comparison revealed significant prevalence alterations. Genes altered more commonly included FGFR3 (35.6% vs 21.6%; p =0.065), HRAS (13.6% 1.0%; =0.001), CDKN2B (15.3% 3.9%; =0.016). less frequently mutated TP53 (25.4% 57.8%; RB1 (0.0% 18.6%; ARID1A 27.5%; =0.050). Because our was restricted genomic targeted panel, rare epigenetic changes not analyzed. Conclusions High-grade display spectrum genetic UCB. However, there several recurrently genes including , . As relevant inhibitors are being developed tested, these results may important implications for site-specific management carcinoma. Patient summary cancer identified that present both types but at different frequencies, indicating potential need unique strategies. found high rate could be novel therapies.