Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia

Author:

Opatz Sabrina123,Polzer Harald14,Herold Tobias14,Konstandin Nikola P.1,Ksienzyk Bianka1,Zellmeier Evelyn1,Vosberg Sebastian14,Graf Alexander5,Krebs Stefan5,Blum Helmut5,Hopfner Karl-Peter6,Kakadia Purvi M.17,Schneider Stephanie1,Dufour Annika1,Braess Jan8,Sauerland Maria Cristina9,Berdel Wolfgang E.10,Büchner Thomas10,Woermann Bernhard J.11,Hiddemann Wolfgang1234,Spiekermann Karsten1234,Bohlander Stefan K.47,Greif Philipp A.1234

Affiliation:

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

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

3. German Cancer Research Centre (DKFZ), Heidelberg, Germany;

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

5. Laboratory for Functional Genome Analysis, and

6. Department of Biochemistry at the Gene Center, Munich, Germany;

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

8. Oncology and Hematology, St. John of God Hospital, Regensburg, Germany;

9. Institute of Biostatistics and Clinical Research, and

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

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

Abstract

Key Points FLT3 N676K mutations without concurrent internal tandem duplication (ITD) are associated with core-binding factor leukemia. N676K activates FLT3 and downstream signaling pathways.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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