{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["O'Halloran K"],"funding":["NICHD NIH HHS","National Institutes of Health"],"pagination":["721-729"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11296893"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(8)"],"pubmed_abstract":["Little is known about the genomic alterations in chordoma, with the exception of loss of SMARCB1, a core member of the SWI/SNF complex, in poorly differentiated chordomas. A TBXT duplication and rs2305089 polymorphism, located at 6q27, are known genetic susceptibility loci. A comprehensive genomic analysis of the nuclear and mitochondrial genomes in pediatric chordoma has not yet been reported. In this study, we performed WES and mtDNA genome sequencing on 29 chordomas from 23 pediatric patients. Findings were compared with that from whole-genome sequencing datasets of 80 adult patients with skull base chordoma. In the pediatric chordoma cohort, 81% of the somatic mtDNA mutations were observed in NADH complex genes, which is significantly enriched compared with the rest of the mtDNA genes "],"journal":["Molecular cancer research : MCR"],"pubmed_title":["Pediatric Chordoma: A Tale of Two Genomes."],"pmcid":["PMC11296893"],"funding_grant_id":["U24 HD093483","U24-HD093483"],"pubmed_authors":["Bootwalla M","Treece A","Yellapantula V","Cotter JA","Velazquez Vega J","O'Halloran K","Gai X","Kaneva K","Hakimjavadi H","Ostrow D","Foreman NK","Alexandrescu S","Kerawala R","Wadhwani NR","Biegel JA"],"additional_accession":[]},"is_claimable":false,"name":"Pediatric Chordoma: A Tale of Two Genomes.","description":"Little is known about the genomic alterations in chordoma, with the exception of loss of SMARCB1, a core member of the SWI/SNF complex, in poorly differentiated chordomas. A TBXT duplication and rs2305089 polymorphism, located at 6q27, are known genetic susceptibility loci. A comprehensive genomic analysis of the nuclear and mitochondrial genomes in pediatric chordoma has not yet been reported. In this study, we performed WES and mtDNA genome sequencing on 29 chordomas from 23 pediatric patients. Findings were compared with that from whole-genome sequencing datasets of 80 adult patients with skull base chordoma. In the pediatric chordoma cohort, 81% of the somatic mtDNA mutations were observed in NADH complex genes, which is significantly enriched compared with the rest of the mtDNA genes ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-06-01T14:40:02.881Z","creation":"2025-04-03T23:22:18.147Z"},"accession":"S-EPMC11296893","cross_references":{"pubmed":["38691518"],"doi":["10.1158/1541-7786.mcr-23-0741","10.1158/1541-7786.MCR-23-0741"]}}