{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(4)"],"submitter":["Ferrari A"],"funding":["Italian Ministry of Health"],"pubmed_abstract":["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, tra"],"journal":["Genes"],"pagination":["918"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10137952"],"repository":["biostudies-literature"],"pubmed_title":["Detection of a Novel <i>MSI2-C17orf64</i> Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report."],"pmcid":["PMC10137952"],"pubmed_authors":["Domizio C","Mattioli S","Ferrari A","Angeli D","Martinelli G","Domenico Raulli G","Bonora E","Fiocca R","Fonzi E","Molinari C"],"additional_accession":[]},"is_claimable":false,"name":"Detection of a Novel <i>MSI2-C17orf64</i> Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report.","description":"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, tra","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2026-04-07T21:01:01.568Z","creation":"2025-04-06T08:41:24.982Z"},"accession":"S-EPMC10137952","cross_references":{"pubmed":["37107676"],"doi":["10.3390/genes14040918"]}}