Overview

• Standard DNA sequencing and circulating tumor DNA panels failed to detect NUT gene fusions in more than 75% of cases.
• NUT immunohistochemistry identified fusions in 100% of tumors, with RNA fusion assays and NUTM1 FISH detecting 84% and 92% respectively.
• Investigators recommend immediate integration of fusion-specific assays into diagnostic workflows for suspected NUT carcinoma.
• More than half of tumors lacked secondary cancer-associated mutations; the remainder harbored alterations in epigenetic, cell cycle or DNA repair genes.
• Dana-Farber researchers have launched preclinical studies to assess targeted combination therapies against these additional genetic mutations.