Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases.
Christian KölscheDaniel SchrimpfLars TharunEva RothDominik SturmDavid T W JonesEva-Kristin RenkerMartin SillAnnika BaudeFelix SahmDavid CapperMelanie Bewerunge-HudlerWolfgang HartmannAndreas E KulozikIver PetersenUta FluckeHendrik W B SchreuderReinhard BüttnerMarc-André WeberPeter SchirmacherChristoph PlassStefan M PfisterAndreas von DeimlingGunhild MechtersheimerPublished in: Clinical sarcoma research (2017)
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.