{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Koelsche C"],"funding":["Deutsche Krebshilfe"],"pagination":["9"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5418758"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["7"],"pubmed_abstract":["<h4>Background</h4>Histone 3.3 (H3.3) hotspot mutations in bone tumors occur in the vast majority of giant cell tumors of bone (GCTBs; 96%), chondroblastomas (95%) and in a few cases of osteosarcomas. However, clinical presentation, histopathological features, and additional molecular characteristics of H3.3 mutant osteosarcomas are largely unknown.<h4>Methods</h4>In this multicentre, retrospective study, a total of 106 conventional high-grade osteosarcomas, across all age groups were re-examined for hotspot mutations in the H3.3 coding genes <i>H3F3A</i> and <i>H3F3B</i>. H3.3 mutant osteosarcomas were re-evaluated in a multidisciplinary manner and analyzed for genome-wide DNA-methylation patterns and DNA copy number aberrations alongside H3.3 wild-type osteosarcomas and <i>H3F3A</i> G34W"],"journal":["Clinical sarcoma research"],"pubmed_title":["Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases."],"pmcid":["PMC5418758"],"funding_grant_id":["70112499"],"pubmed_authors":["Renker EK","Plass C","Tharun L","Petersen I","von Deimling A","Roth E","Schreuder HWB","Weber MA","Buttner R","Jones DTW","Capper D","Pfister SM","Mechtersheimer G","Sturm D","Schrimpf D","Kulozik AE","Koelsche C","Sahm F","Schirmacher P","Bewerunge-Hudler M","Baude A","Flucke U","Sill M","Hartmann W"],"additional_accession":[]},"is_claimable":false,"name":"Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases.","description":"<h4>Background</h4>Histone 3.3 (H3.3) hotspot mutations in bone tumors occur in the vast majority of giant cell tumors of bone (GCTBs; 96%), chondroblastomas (95%) and in a few cases of osteosarcomas. However, clinical presentation, histopathological features, and additional molecular characteristics of H3.3 mutant osteosarcomas are largely unknown.<h4>Methods</h4>In this multicentre, retrospective study, a total of 106 conventional high-grade osteosarcomas, across all age groups were re-examined for hotspot mutations in the H3.3 coding genes <i>H3F3A</i> and <i>H3F3B</i>. H3.3 mutant osteosarcomas were re-evaluated in a multidisciplinary manner and analyzed for genome-wide DNA-methylation patterns and DNA copy number aberrations alongside H3.3 wild-type osteosarcomas and <i>H3F3A</i> G34W","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-05-31T22:53:49.916Z","creation":"2025-05-31T22:53:49.916Z"},"accession":"S-EPMC5418758","cross_references":{"pubmed":["28484590"],"doi":["10.1186/s13569-017-0075-5"]}}