biostudies-literatureSilva FLTConselho Nacional de Desenvolvimento Científico e TecnológicoFundação de Amparo à Pesquisa do Estado de São PauloPRONON1428https://www.ebi.ac.uk/biostudies/studies/S-EPMC11577672biostudies-literatureUnknown24(1)Pediatric sarcomas present heterogeneous morphology, genetics and clinical behavior posing a challenge for an accurate diagnosis. DNA methylation is an epigenetic modification that coordinates chromatin structure and regulates gene expression, determining cell type and function. DNA methylation-based tumor profiling classifier for sarcomas (known as sarcoma classifier) from the German Cancer Research Center (Deutsches Krebsforschungszentrum) was applied to 122 pediatric sarcomas referred to a reference pediatric oncology hospital. The classifiers reported 88.5% of agreement between histopathological and molecular classification confirming the initial diagnosis of all osteosarcomas and Ewing sarcomas. The Ewing-like sarcomas were reclassified into sarcomas with BCOR or CIC alterations, lateBMC cancerClassification of pediatric soft and bone sarcomas using DNA methylation-based profiling.PMC11577672SIPAR 25000.211368/2019-412021/06782-72022/04781-6311141/2021-8SIPAR 25000.012259/2019-42Euzebio MFSilva FLTFranco MTZenatti PPJotta PYPereira LHRuas JSLucon DRCardinalli IAJunqueira TMaschietto MCassone AEfalseClassification of pediatric soft and bone sarcomas using DNA methylation-based profiling.Pediatric sarcomas present heterogeneous morphology, genetics and clinical behavior posing a challenge for an accurate diagnosis. DNA methylation is an epigenetic modification that coordinates chromatin structure and regulates gene expression, determining cell type and function. DNA methylation-based tumor profiling classifier for sarcomas (known as sarcoma classifier) from the German Cancer Research Center (Deutsches Krebsforschungszentrum) was applied to 122 pediatric sarcomas referred to a reference pediatric oncology hospital. The classifiers reported 88.5% of agreement between histopathological and molecular classification confirming the initial diagnosis of all osteosarcomas and Ewing sarcomas. The Ewing-like sarcomas were reclassified into sarcomas with BCOR or CIC alterations, late2024-01-01T00:00:00Z2024 Nov2025-04-26T01:56:34.189Z2025-04-06T10:18:52.175ZS-EPMC115776723956789810.1186/s12885-024-13159-9