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

Author:

Herold Tobias1234,Metzeler Klaus H.1234,Vosberg Sebastian1234,Hartmann Luise1234,Röllig Christoph345,Stölzel Friedrich5,Schneider Stephanie1,Hubmann Max12,Zellmeier Evelyn1,Ksienzyk Bianka1,Jurinovic Vindi6,Pasalic Zlatana1,Kakadia Purvi M.7,Dufour Annika1,Graf Alexander8,Krebs Stefan8,Blum Helmut8,Sauerland Maria Cristina9,Büchner Thomas10,Berdel Wolfgang E.10,Woermann Bernhard J.11,Bornhäuser Martin345,Ehninger Gerhard345,Mansmann Ulrich346,Hiddemann Wolfgang1234,Bohlander Stefan K.12,Spiekermann Karsten1234,Greif Philipp A.1234

Affiliation:

1. Department of Internal Medicine 3, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany;

2. Clinical Cooperative Group Leukemia, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany;

3. German Cancer Consortium (DKTK), Heidelberg, Germany;

4. German Cancer Research Center (DKFZ), Heidelberg, Germany;

5. Medizinische Klinik und Poliklinik I, Universitätsklinikum Dresden, Dresden, Germany;

6. Institute for Medical Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany;

7. Center for Human Genetics, Philipps University, Marburg, Germany;

8. Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, Ludwig-Maximilians-Universität, Munich, Germany;

9. Institute of Biostatistics and Clinical Research, and

10. Department of Medicine A - Hematology, Oncology and Pneumology, University of Münster, Münster, Germany;

11. German Society of Hematology and Oncology, Berlin, Germany; and

12. Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand

Abstract

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%)

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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