Next-generation sequencing-based molecular characterization of primary urinary bladder adenocarcinoma

摘要: Primary bladder adenocarcinoma is a rare and aggressive tumor with poor clinical outcomes no standard of care therapy. Molecular biology this unknown due to the lack comprehensive molecular profiling studies. The study aimed identify genomic alterations therapeutic significance using next-generation sequencing compare profile primary that high-grade urothelial carcinoma colorectal adenocarcinoma. A cohort 15 well-characterized was subjected targeted for identification mutations copy-number changes in 51 cancer-related genes. Genomic profiles 25 HGUCs adenocarcinomas 50 genes were compared visualized JavaScript library D3.js. striking finding distinct across assessed mucinous subtype Eleven harbored at least one alteration TP53, KRAS, PIK3CA, CTNNB1, APC, TERT, FBXW7, IDH2 RB1, many which are novel findings potential significance. CTNNB1 APC restricted enteric only. While showed substantial overlap adenocarcinoma, FGFR3 HRAS mutually exclusive between carcinoma. These affecting MAP kinase, PI3K/Akt, Wnt, IDH (metabolic) Tp53/Rb1 signaling pathways may provide opportunity defining approaches.