Genomic profiling of solid tumors harboring BRD4-NUT and response to immune checkpoint inhibitors.

ABSTRACT:

Background

The translocation t(15:19) produces the oncogenic BRD4-NUT fusion which is pathognomonic for NUT carcinoma (NC), which is a rare, but extremely aggressive solid tumor. Comprehensive genomic profiling (CGP) by hybrid-capture based next generation sequencing of 186+ genes of a cohort of advanced cancer cases with a variety of initial diagnoses harboring BRD4-NUT may shed further insight into the biology of these tumors and possible options for targeted treatment.

Case presentation

Thirty-one solid tumor cases harboring a BRD4-NUT translocation are described, with only 16% initially diagnosed as NC and the remainder carrying other diagnoses, most commonly NSCLCNOS (22%) and lung squamous cell carcinoma (NSCLC-SCC) (16%). The cohort was all microsatellite stable and h

SUBMITTER: Riess JW 

PROVIDER: S-EPMC8340305 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature