{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim JJ"],"funding":["Max Vincze Foundation","NCATS NIH HHS","DF/HCC Lung Spore Career Enhancement Program","Friends of Jay Dion","National Cancer Institute (NCI)","Lowe Center for Thoracic Oncology","Fortisure Foundation for NUT Carcinoma Research","McDevitt Strong","Victor Family Foundation","Alexandra Hallock Memorial Fund","2024-25 American-Italian Cancer Foundation Post-Doctoral Research Fellowship","NCI NIH HHS","Ryan Richards Foundation"],"pagination":["3922-3931"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12373430"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(18)"],"pubmed_abstract":["<h4>Purpose</h4>NUT carcinoma (NC) is an underdiagnosed, poorly differentiated squamous cell cancer with a median survival of 6.7 months. Defined by NUTM1 fusions, NC enhances oncogene transcription, including MYC. We investigated the ability of standard next-generation sequencing (NGS) to identify NUTM1 fusions and describe additional molecular features of NC.<h4>Experimental design</h4>This study included 116 patients with NC whose tumors underwent broad-panel NGS (>80 genes) of DNA, ctDNA, and/or RNA fusion sequencing between 2013 and 2024. NGS reports and medical records were manually reviewed.<h4>Results</h4>Of 116 patients (median age, 38; 40.5% female), 84.5% had DNA, 12.1% had ctDNA, and 51.7% had RNA fusion testing. In a subset of 100 patients with DNA/ctDNA testing, 92.9% (n = 79"],"journal":["Clinical cancer research : an official journal of the American Association for Cancer Research"],"pubmed_title":["Molecular Characterization of NUT Carcinoma: A Report from the NUT Carcinoma Registry."],"pmcid":["PMC12373430"],"funding_grant_id":["K12TR004381","R01 CA124633","P30 CA016672","K12 TR004381","R01CA124633-16"],"pubmed_authors":["Paoloni F","Kim JJ","Mahadevan NR","Janne PA","Walton SA","French CA","Shapiro GI","Piha-Paul SA","Hsu R","Sholl LM","DuBois SG","Luo J","Haradon J","Paik PK","Hanna GJ","Chaft JE","Barbie DA"],"additional_accession":[]},"is_claimable":false,"name":"Molecular Characterization of NUT Carcinoma: A Report from the NUT Carcinoma Registry.","description":"<h4>Purpose</h4>NUT carcinoma (NC) is an underdiagnosed, poorly differentiated squamous cell cancer with a median survival of 6.7 months. Defined by NUTM1 fusions, NC enhances oncogene transcription, including MYC. We investigated the ability of standard next-generation sequencing (NGS) to identify NUTM1 fusions and describe additional molecular features of NC.<h4>Experimental design</h4>This study included 116 patients with NC whose tumors underwent broad-panel NGS (>80 genes) of DNA, ctDNA, and/or RNA fusion sequencing between 2013 and 2024. NGS reports and medical records were manually reviewed.<h4>Results</h4>Of 116 patients (median age, 38; 40.5% female), 84.5% had DNA, 12.1% had ctDNA, and 51.7% had RNA fusion testing. In a subset of 100 patients with DNA/ctDNA testing, 92.9% (n = 79","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-01T13:52:40.217Z","creation":"2026-04-08T13:05:41.772Z"},"accession":"S-EPMC12373430","cross_references":{"pubmed":["40704901"],"doi":["10.1158/1078-0432.CCR-25-1071","10.1158/1078-0432.ccr-25-1071"]}}