Distinct molecular signatures of upper tract urothelial carcinoma in Southwestern Taiwan: implications for targeted therapy and disease progression.

ABSTRACT: The incidence of upper tract urothelial carcinoma (UTUC) continues to rise in Southwestern Taiwan, despite a reduction in known environmental carcinogens. This study aimed to characterize the mutational and molecular profiles of UTUC in this high-incidence region and evaluate potential therapeutic targets. We performed next-generation sequencing using the TruSight Oncology 500 panel on 19 formalin-fixed, paraffin-embedded UTUC samples. We analyzed single nucleotide variants (SNVs), insertions/deletions (INDELs), copy number variants (CNVs), microsatellite instability (MSI), and tumor mutational burden (TMB). MSI was stable in all cases, and 42.1% of samples exhibited high TMB (>20 mutations/Mb), often co-occurring with inactivation of TP53, BRCA1, or BRCA2. CNVs were significantly more fre

SUBMITTER: Shen CH 

PROVIDER: S-EPMC12616163 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature