biostudies-literatureKim JJMax Vincze FoundationNCATS NIH HHSDF/HCC Lung Spore Career Enhancement ProgramFriends of Jay DionNational Cancer Institute (NCI)Lowe Center for Thoracic OncologyFortisure Foundation for NUT Carcinoma ResearchMcDevitt StrongVictor Family FoundationAlexandra Hallock Memorial Fund2024-25 American-Italian Cancer Foundation Post-Doctoral Research FellowshipNCI NIH HHSRyan Richards Foundation3922-3931https://www.ebi.ac.uk/biostudies/studies/S-EPMC12373430biostudies-literatureUnknown31(18)<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 = 79Clinical cancer research : an official journal of the American Association for Cancer ResearchMolecular Characterization of NUT Carcinoma: A Report from the NUT Carcinoma Registry.PMC12373430K12TR004381R01 CA124633P30 CA016672K12 TR004381R01CA124633-16Paoloni FKim JJMahadevan NRJanne PAWalton SAFrench CAShapiro GIPiha-Paul SAHsu RSholl LMDuBois SGLuo JHaradon JPaik PKHanna GJChaft JEBarbie DAfalseMolecular Characterization of NUT Carcinoma: A Report from the NUT Carcinoma Registry.<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 = 792025-01-01T00:00:00Z2025 Sep2026-06-01T13:52:40.217Z2026-04-08T13:05:41.772ZS-EPMC123734304070490110.1158/1078-0432.CCR-25-107110.1158/1078-0432.ccr-25-1071