Multiomics profiling of urothelial carcinoma <i>in situ</i> reveals CIS-specific gene signature and immune characteristics.

ABSTRACT: Urothelial carcinoma in situ (CIS) is an aggressive phenotype of non-muscle-invasive bladder cancer. Molecular features unique to CIS compared to high-grade papillary tumors are underexplored. RNA sequencing of CIS, papillary tumors, and normal urothelium showed lower immune marker expression in CIS compared to papillary tumors. We identified a 46-gene expression signature in CIS samples including selectively upregulated known druggable targets MTOR, TYK2, AXIN1, CPT1B, GAK, and PIEZO1 and selectively downregulated BRD2 and NDUFB2. High expression of selected genes was significantly associated with CIS in an independent dataset. Mutation analysis of matched CIS and papillary tumors revealed shared mutations between samples acro

SUBMITTER: Anurag M 

PROVIDER: S-EPMC10910238 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature