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000131057 1001_ $$00000-0001-8763-8864$$aKoelsche, Christian$$b0$$eFirst author
000131057 245__ $$aHistone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases.
000131057 260__ $$aLondon$$bBioMed Central$$c2017
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000131057 520__ $$aHistone 3.3 (H3.3) hotspot mutations in bone tumors occur in the vast majority of giant cell tumors of bone (GCTBs; 96%), chondroblastomas (95%) and in a few cases of osteosarcomas. However, clinical presentation, histopathological features, and additional molecular characteristics of H3.3 mutant osteosarcomas are largely unknown.In this multicentre, retrospective study, a total of 106 conventional high-grade osteosarcomas, across all age groups were re-examined for hotspot mutations in the H3.3 coding genes H3F3A and H3F3B. H3.3 mutant osteosarcomas were re-evaluated in a multidisciplinary manner and analyzed for genome-wide DNA-methylation patterns and DNA copy number aberrations alongside H3.3 wild-type osteosarcomas and H3F3A G34W/L mutant GCTBs.Six osteosarcomas (6/106) carried H3F3A hotspot mutations. No mutations were found in H3F3B. All patients with H3F3A mutant osteosarcoma were older than 30 years with a median age of 65 years. Copy number aberrations that are commonly encountered in high-grade osteosarcomas also occurred in H3F3A mutant osteosarcomas. Unlike a single osteosarcoma with a H3F3A K27M mutation, the DNA methylation profiles of H3F3A G34W/R mutant osteosarcomas were clearly different from H3.3 wild-type osteosarcomas, but more closely related to GCTBs. The most differentially methylated promoters between H3F3A G34W/R mutant and H3.3 wild-type osteosarcomas were in KLLN/PTEN (p < 0.00005) and HIST1H2BB (p < 0.0005).H3.3 mutations in osteosarcomas may occur in H3F3A at mutational hotspots. They are overall rare, but become more frequent in osteosarcoma patients older than 30 years. Osteosarcomas carrying H3F3A G34W/R mutations are associated with epigenetic dysregulation of KLLN/PTEN and HIST1H2BB.
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000131057 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b1$$eFirst author$$udkfz
000131057 7001_ $$aTharun, Lars$$b2
000131057 7001_ $$aRoth, Eva$$b3
000131057 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b4$$udkfz
000131057 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b5$$udkfz
000131057 7001_ $$aRenker, Eva-Kristin$$b6
000131057 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b7$$udkfz
000131057 7001_ $$0P:(DE-He78)368ce5d4d6b95d5876a25eadfa604de1$$aBaude, Annika$$b8$$udkfz
000131057 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b9$$udkfz
000131057 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b10$$udkfz
000131057 7001_ $$0P:(DE-He78)7999346780553d7fab7ba69d5afdfa71$$aBewerunge-Hudler, Melanie$$b11$$udkfz
000131057 7001_ $$aHartmann, Wolfgang$$b12
000131057 7001_ $$aKulozik, Andreas E$$b13
000131057 7001_ $$aPetersen, Iver$$b14
000131057 7001_ $$aFlucke, Uta$$b15
000131057 7001_ $$aSchreuder, Hendrik W B$$b16
000131057 7001_ $$aBüttner, Reinhard$$b17
000131057 7001_ $$aWeber, Marc-André$$b18
000131057 7001_ $$aSchirmacher, Peter$$b19
000131057 7001_ $$0P:(DE-He78)4301875630bc997edf491c694ae1f8a9$$aPlass, Christoph$$b20$$udkfz
000131057 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b21$$udkfz
000131057 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b22$$eLast author$$udkfz
000131057 7001_ $$aMechtersheimer, Gunhild$$b23
000131057 773__ $$0PERI:(DE-600)2623217-0$$a10.1186/s13569-017-0075-5$$gVol. 7, no. 1, p. 9$$n1$$p9$$tClinical Sarcoma Research$$v7$$x2045-3329$$y2017
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