{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sievers P"],"funding":["Cancer Research UK","Hertie Network of Excellence in Clinical Neuroscience","The Brain Tumour Charity"],"pagination":["34-43"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7850075"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["<h4>Background</h4>Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.<h4>Methods</h4>Here, we investigated an epigenetically homogeneous cohort of malignant gliomas (n = 58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.<h4>Results</h4>EGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencin"],"journal":["Neuro-oncology"],"pubmed_title":["A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR."],"pmcid":["PMC7850075"],"funding_grant_id":["16/193","23536"],"pubmed_authors":["Kramm CM","Stichel D","Pfister SM","Solomon DA","Sievers P","Sturm D","Korshunov A","Wesseling P","Jones C","Schrimpf D","Castel D","Snuderl M","Witt O","Hench J","Reuss DE","Harter PN","Jabado N","Reifenberger G","Frank S","Vicha A","Debily MA","von Deimling A","Jacques TS","Jones DTW","Zapotocky M","Perry A","Krskova L","Sahm F","Grill J","Wick W","Bison B","Sill M"],"additional_accession":[]},"is_claimable":false,"name":"A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.","description":"<h4>Background</h4>Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.<h4>Methods</h4>Here, we investigated an epigenetically homogeneous cohort of malignant gliomas (n = 58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.<h4>Results</h4>EGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencin","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2026-04-08T13:53:01.103Z","creation":"2022-02-11T12:24:33.3Z"},"accession":"S-EPMC7850075","cross_references":{"pubmed":["33130881"],"doi":["10.1093/neuonc/noaa251"]}}