<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases"^^ . "Background: 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. Methods: 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 H3F3A and H3F3B. 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 H3F3A G34W/L mutant GCTBs. Results: Six osteosarcomas (6/106) carried H3F3A hotspot mutations. No mutations were found in H3F3B. All patients with H3F3A mutant osteosarcoma were older than 30 years with a median age of 65 years. Copy number aberrations that are commonly encountered in high-grade osteosarcomas also occurred in H3F3A mutant osteosarcomas. Unlike a single osteosarcoma with a H3F3A K27M mutation, the DNA methylation profiles of H3F3A G34W/R mutant osteosarcomas were clearly different from H3.3 wild-type osteosarcomas, but more closely related to GCTBs. The most differentially methylated promoters between H3F3A G34W/R mutant and H3.3 wild-type osteosarcomas were in KLLN/PTEN (p < 0.00005) and HIST1H2BB (p < 0.0005). Conclusions: H3.3 mutations in osteosarcomas may occur in H3F3A at mutational hotspots. They are overall rare, but become more frequent in osteosarcoma patients older than 30 years. Osteosarcomas carrying H3F3A G34W/R mutations are associated with epigenetic dysregulation of KLLN/PTEN and HIST1H2BB."^^ . "2017" . . "7" . "9" . . "BioMed Central"^^ . . . "Clinical Sarcoma Research"^^ . . . "20453329" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Hendrik W. B."^^ . "Schreuder"^^ . "Hendrik W. B. Schreuder"^^ . . "David"^^ . "Capper"^^ . "David Capper"^^ . . "Andreas"^^ . "von Deimling"^^ . "Andreas von Deimling"^^ . . "Eva"^^ . "Roth"^^ . "Eva Roth"^^ . . "Daniel"^^ . "Schrimpf"^^ . "Daniel Schrimpf"^^ . . "Christoph"^^ . "Plass"^^ . "Christoph Plass"^^ . . "David T. W."^^ . "Jones"^^ . "David T. W. Jones"^^ . . "Wolfgang"^^ . "Hartmann"^^ . "Wolfgang Hartmann"^^ . . "Peter"^^ . "Schirmacher"^^ . "Peter Schirmacher"^^ . . "Iver"^^ . "Petersen"^^ . "Iver Petersen"^^ . . "Lars"^^ . "Tharun"^^ . "Lars Tharun"^^ . . "Gunhild"^^ . "Mechtersheimer"^^ . "Gunhild Mechtersheimer"^^ . . "Eva-Kristin"^^ . "Renker"^^ . "Eva-Kristin Renker"^^ . . "Uta"^^ . "Flucke"^^ . "Uta Flucke"^^ . . "Dominik"^^ . "Sturm"^^ . "Dominik Sturm"^^ . . "Melanie"^^ . "Bewerunge-Hudler"^^ . "Melanie Bewerunge-Hudler"^^ . . "Reinhard"^^ . "Büttner"^^ . "Reinhard Büttner"^^ . . "Stefan M."^^ . "Pfister"^^ . "Stefan M. Pfister"^^ . . "Felix"^^ . "Sahm"^^ . "Felix Sahm"^^ . . "Martin"^^ . "Sill"^^ . "Martin Sill"^^ . . "Andreas E."^^ . "Kulozik"^^ . "Andreas E. Kulozik"^^ . . "Marc-André"^^ . "Weber"^^ . "Marc-André Weber"^^ . . "Annika"^^ . "Baude"^^ . "Annika Baude"^^ . . "Christian"^^ . "Koelsche"^^ . "Christian Koelsche"^^ . . . . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (PDF)"^^ . . . "13569_2017_Article_75.pdf"^^ . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (Other)"^^ . . . . . . "indexcodes.txt"^^ . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (Other)"^^ . . . . . . "preview.jpg"^^ . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (Other)"^^ . . . . . . "medium.jpg"^^ . . . "Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases (Other)"^^ . . . . . . "small.jpg"^^ . . "HTML Summary of #22923 \n\nHistone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases\n\n" . "text/html" . . . "610 Medizin"@de . "610 Medical sciences Medicine"@en . .