{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Anurag M"],"funding":["NCI NIH HHS"],"pagination":["109179"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10910238"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(3)"],"pubmed_abstract":["Urothelial carcinoma <i>in situ</i> (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 <i>MTOR</i>, <i>TYK2</i>, <i>AXIN1</i>, <i>CPT1B</i>, <i>GAK</i>, and <i>PIEZO1</i> and selectively downregulated <i>BRD2</i> and <i>NDUFB2</i>. 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"],"journal":["iScience"],"pubmed_title":["Multiomics profiling of urothelial carcinoma &lt;i&gt;in situ&lt;/i&gt; reveals CIS-specific gene signature and immune characteristics."],"pmcid":["PMC10910238"],"funding_grant_id":["P30 CA008748","P50 CA221745"],"pubmed_authors":["Strandgaard T","Dou Y","Al-Ahmadie H","Nordentoft I","Kim SH","Jensen JB","Taber A","Inman BA","Comperat E","Anurag M","Dyrskjot L","Lerner SP"],"additional_accession":[]},"is_claimable":false,"name":"Multiomics profiling of urothelial carcinoma &lt;i&gt;in situ&lt;/i&gt; reveals CIS-specific gene signature and immune characteristics.","description":"Urothelial carcinoma <i>in situ</i> (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 <i>MTOR</i>, <i>TYK2</i>, <i>AXIN1</i>, <i>CPT1B</i>, <i>GAK</i>, and <i>PIEZO1</i> and selectively downregulated <i>BRD2</i> and <i>NDUFB2</i>. 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","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2026-06-02T21:17:39.516Z","creation":"2025-04-19T22:00:57.484Z"},"accession":"S-EPMC10910238","cross_references":{"pubmed":["38439961"],"doi":["10.1016/j.isci.2024.109179"]}}