Molecular Characterization of NUT Carcinoma: A Report from the NUT Carcinoma Registry.

ABSTRACT:

Purpose

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.

Experimental design

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.

Results

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

SUBMITTER: Kim JJ 

PROVIDER: S-EPMC12373430 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature