Article
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.
Blood - 15 Mar 2012
Hirabayashi Shinsuke, Flotho Christian, Moetter Jessica, Heuser Michael, Hasle Henrik, Gruhn Bernd, Klingebiel Thomas, Thol Felicitas, Schlegelberger Brigitte, Baumann Irith, Strahm Brigitte, Stary Jan, Locatelli Franco, Zecca Marco, Bergstraesser Eva, Dworzak Michael, van den Heuvel-Eibrink Marry M, De Moerloose Barbara, Ogawa Seishi, Niemeyer Charlotte M, Wlodarski Marcin W
Abstract excerpt
Somatic mutations of the spliceosomal machinery occur frequently in adult patients with myelodysplastic syndrome (MDS). We resequenced SF3B1, U2AF35, and SRSF2 in 371 children with MDS or juvenile myelomonocytic leukemia. We found missense mutations in 2 juvenile myelomonocytic leukemia cases and in 1 child with systemic mastocytosis with MDS. In 1 juvenile myelomonocytic leukemia patient, the SRSF2 mutation that...
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