biostudies-literatureKoelsche CDeutsche Krebshilfe9https://www.ebi.ac.uk/biostudies/studies/S-EPMC5418758biostudies-literatureUnknown7<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> G34WClinical sarcoma researchHistone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases.PMC541875870112499Renker EKPlass CTharun LPetersen Ivon Deimling ARoth ESchreuder HWBWeber MAButtner RJones DTWCapper DPfister SMMechtersheimer GSturm DSchrimpf DKulozik AEKoelsche CSahm FSchirmacher PBewerunge-Hudler MBaude AFlucke USill MHartmann WfalseHistone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases.<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> G34W2017-01-01T00:00:00Z20172025-05-31T22:53:49.916Z2025-05-31T22:53:49.916ZS-EPMC54187582848459010.1186/s13569-017-0075-5