PBRM1 presents a potential prognostic marker and therapeutic target in duodenal papillary carcinoma.

ABSTRACT:

Background

Due to its rarity, duodenal papillary carcinoma (DPC) is seldom studied as a unique disease and no specific molecular features or treatment guidelines are provided.

Methods

Whole-exome sequencing was performed to gain new insights into the DPC mutation landscape and to identify potential signalling pathways and therapeutic targets. Mechanistically, immunohistochemistry (IHC), immunofluorescence, RNA-seq, ATAC-seq and in vitro cell function experiments were performed to confirm the underlying mechanisms.

Results

We described the mutational landscape of DPC for the first time as a group of rare tumours with a high frequency of dysregulation in the chromatin remodelling pathway, particularly PBRM1-inactivating mutations that are significantly higher than duode

SUBMITTER: He X 

PROVIDER: S-EPMC9523678 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature