Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations

Author:

Neumann Martin1,Heesch Sandra1,Schlee Cornelia1,Schwartz Stefan1,Gökbuget Nicola2,Hoelzer Dieter2,Konstandin Nikola P.34,Ksienzyk Bianka34,Vosberg Sebastian34,Graf Alexander5,Krebs Stefan5,Blum Helmut5,Raff Thorsten6,Brüggemann Monika6,Hofmann Wolf-Karsten7,Hecht Jochen8,Bohlander Stefan K.349,Greif Philipp A.341011,Baldus Claudia D.1

Affiliation:

1. Department of Hematology and Oncology, Campus Benjamin Franklin, Charité, University Hospital Berlin, Berlin, Germany;

2. Department of Medicine II, Hematology/Oncology, Goethe University Hospital, Frankfurt/Main, Germany;

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

4. Department of Internal Medicine 3, and

5. Laboratory for Functional Genome Analysis, Gene-Center, Ludwig-Maximilians-University, Munich, Germany;

6. Department of Hematology and Oncology, University Hospital Kiel, Kiel, Germany;

7. Department of Hematology and Oncology, University Hospital Mannheim, Mannheim, Germany;

8. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, Berlin, Germany;

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

10. German Cancer Consortium, Heidelberg, Germany; and

11. German Cancer Research Centre, Heidelberg, Germany

Abstract

Key Points Exome sequencing of adult ETP-ALL reveals new recurrent mutations; in particular, DNMT3A is frequently mutated in adult ETP-ALL. More than 60% of all adult patients with ETP-ALL harbor a mutation that could potentially be targeted by a specific therapy.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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