biostudies-literatureUnknown14(4)Ferrari AItalian Ministry of HealthAdenocarcinoma of the esophagus (EAC) and gastroesophageal junction (GEJ-AC) is associated with poor prognosis, treatment resistance and limited systemic therapeutic options. To deeply understand the genomic landscape of this cancer type, and potentially identify a therapeutic target in a neoadjuvant chemotherapy non-responder 48-year-old man, we adopted a multi-omic approach. We simultaneously evaluated gene rearrangements, mutations, copy number status, microsatellite instability and tumor mutation burden. The patient displayed pathogenic mutations of the <i>TP53</i> and <i>ATM</i> genes and variants of uncertain significance of three kinases genes (<i>ERBB3</i>, <i>CSNK1A1</i> and <i>RPS6KB2</i>), along with <i>FGFR2</i> and <i>KRAS</i> high copy number amplification. Interestingly, traGenes918https://www.ebi.ac.uk/biostudies/studies/S-EPMC10137952biostudies-literatureDetection of a Novel <i>MSI2-C17orf64</i> Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report.PMC10137952Domizio CMattioli SFerrari AAngeli DMartinelli GDomenico Raulli GBonora EFiocca RFonzi EMolinari CfalseDetection of a Novel <i>MSI2-C17orf64</i> Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report.Adenocarcinoma of the esophagus (EAC) and gastroesophageal junction (GEJ-AC) is associated with poor prognosis, treatment resistance and limited systemic therapeutic options. To deeply understand the genomic landscape of this cancer type, and potentially identify a therapeutic target in a neoadjuvant chemotherapy non-responder 48-year-old man, we adopted a multi-omic approach. We simultaneously evaluated gene rearrangements, mutations, copy number status, microsatellite instability and tumor mutation burden. The patient displayed pathogenic mutations of the <i>TP53</i> and <i>ATM</i> genes and variants of uncertain significance of three kinases genes (<i>ERBB3</i>, <i>CSNK1A1</i> and <i>RPS6KB2</i>), along with <i>FGFR2</i> and <i>KRAS</i> high copy number amplification. Interestingly, tra2023-01-01T00:00:00Z2023 Apr2026-04-07T21:01:01.568Z2025-04-06T08:41:24.982ZS-EPMC101379523710767610.3390/genes14040918