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| Home > Publications database > Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases. > print |
| Home > Publications database > Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases. > print |
| 001 | 131057 | ||
| 005 | 20240228145601.0 | ||
| 024 | 7 | _ | |a 10.1186/s13569-017-0075-5 |2 doi |
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| 037 | _ | _ | |a DKFZ-2017-06124 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Koelsche, Christian |0 0000-0001-8763-8864 |b 0 |e First author |
| 245 | _ | _ | |a Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases. |
| 260 | _ | _ | |a London |c 2017 |b BioMed Central |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1661325833_30652 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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.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.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).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. |
| 536 | _ | _ | |a 317 - Translational cancer research (POF3-317) |0 G:(DE-HGF)POF3-317 |c POF3-317 |f POF III |x 0 |
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| 700 | 1 | _ | |a Schrimpf, Daniel |0 P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc |b 1 |e First author |u dkfz |
| 700 | 1 | _ | |a Tharun, Lars |b 2 |
| 700 | 1 | _ | |a Roth, Eva |b 3 |
| 700 | 1 | _ | |a Sturm, Dominik |0 P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807 |b 4 |u dkfz |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 5 |u dkfz |
| 700 | 1 | _ | |a Renker, Eva-Kristin |b 6 |
| 700 | 1 | _ | |a Sill, Martin |0 P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b |b 7 |u dkfz |
| 700 | 1 | _ | |a Baude, Annika |0 P:(DE-He78)368ce5d4d6b95d5876a25eadfa604de1 |b 8 |u dkfz |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 9 |u dkfz |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 10 |u dkfz |
| 700 | 1 | _ | |a Bewerunge-Hudler, Melanie |0 P:(DE-He78)7999346780553d7fab7ba69d5afdfa71 |b 11 |u dkfz |
| 700 | 1 | _ | |a Hartmann, Wolfgang |b 12 |
| 700 | 1 | _ | |a Kulozik, Andreas E |b 13 |
| 700 | 1 | _ | |a Petersen, Iver |b 14 |
| 700 | 1 | _ | |a Flucke, Uta |b 15 |
| 700 | 1 | _ | |a Schreuder, Hendrik W B |b 16 |
| 700 | 1 | _ | |a Büttner, Reinhard |b 17 |
| 700 | 1 | _ | |a Weber, Marc-André |b 18 |
| 700 | 1 | _ | |a Schirmacher, Peter |b 19 |
| 700 | 1 | _ | |a Plass, Christoph |0 P:(DE-He78)4301875630bc997edf491c694ae1f8a9 |b 20 |u dkfz |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 21 |u dkfz |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 22 |e Last author |u dkfz |
| 700 | 1 | _ | |a Mechtersheimer, Gunhild |b 23 |
| 773 | _ | _ | |a 10.1186/s13569-017-0075-5 |g Vol. 7, no. 1, p. 9 |0 PERI:(DE-600)2623217-0 |n 1 |p 9 |t Clinical Sarcoma Research |v 7 |y 2017 |x 2045-3329 |
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