80. Identification of a post-platinum NBN reversion in a pancreatic cancer patient with a co-occurring NTRK1 fusion

Pancreatic acinar cell carcinomas (PACCs) frequently harbor activating fusions in the MAPK pathway, and alterations in DNA damage response (DDR) and homologous recombination (HR) repair-related genes.Here we report the case of a 65-year-old white male with PACC. The patient initially received pancreaticoduodenectomy and adjuvant therapy, but later developed metastatic disease in the liver. Multimodal genomic analysis of the primary resection identified an in-frame SEL1L::NTRK1 fusion and a somatic pathogenic frameshift mutation in NBN exon 10 (c.1146del; p.E383Kfs*21) coupled with loss of heterozygosity, resulting in biallelic inactivation.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Adrienne Johnson, Pier Selenica, Joseph Schonhoft, Danielle Ulanet, Victoria Rimkunas, Jorge Reis-Filho, Ian Silverman, Meredith Pelster Source Type: research