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Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis

2014; Elsevier BV; Volume: 124; Issue: 8 Linguagem: Inglês

10.1182/blood-2013-12-540716

1528-0020

Tobias Herold, Klaus H. Metzeler, Sebastian Vosberg, Luise Hartmann, Christoph Röllig, Friedrich Stölzel, Stephanie Schneider, Max Hubmann, Evelyn Zellmeier, Bianka Ksienzyk, Vindi Jurinović, Zlatana Pasalic, Purvi M. Kakadia, Annika Dufour, Alexander Graf, Stefan Krebs, Helmut Blum, Maria Cristina Sauerland, Thomas Büchner, Wolfgang E. Berdel, Bernhard J. Woermann, Martin Bornhäuser, Gerhard Ehninger, Ulrich Mansmann, Wolfgang Hiddemann, Stefan K. Bohlander, Karsten Spiekermann, Philipp A. Greif,

RNA Research and Splicing

Key Points AML patients with isolated trisomy 13 have a very poor clinical outcome Isolated trisomy 13 in AML is associated with a high frequency of mutations in SRSF2 (81%) and RUNX1 (75%)