Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis

Author:

Skokowa Julia1,Steinemann Doris2,Katsman-Kuipers Jenny E.3,Zeidler Cornelia1,Klimenkova Olga1,Klimiankou Maksim1,Ünalan Murat1,Kandabarau Siarhei1,Makaryan Vahagn4,Beekman Renee5,Behrens Kira6,Stocking Carol6,Obenauer Julia35,Schnittger Susanne7,Kohlmann Alexander7,Valkhof Marijke G.5,Hoogenboezem Remco5,Göhring Gudrun2,Reinhardt Dirk8,Schlegelberger Brigitte2,Stanulla Martin8,Vandenberghe Peter9,Donadieu Jean10,Zwaan C. Michel311,Touw Ivo P.5,van den Heuvel-Eibrink Marry M.311,Dale David C.4,Welte Karl1

Affiliation:

1. Department of Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany;

2. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany;

3. Pediatric Oncology/Hematology, Erasmus Medical Center/Sophia Children’s Hospital, Rotterdam, The Netherlands;

4. University of Washington, Seattle, WA;

5. Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;

6. Heinrich-Pette-Institute, Hamburg, Germany;

7. Munich Leukemia Laboratory, Munich, Germany;

8. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;

9. Center for Human Genetics, Katholieke Universiteit Leuven/University Hospital Leuven, Leuven, Belgium;

10. Service d'Hémato-Oncologie Pédiatrique, Hopital Trousseau, Paris, France; and

11. Dutch Childhood Oncology Group, The Hague, The Netherlands

Abstract

Key Points CN/AML patients have a high frequency of CSF3R and RUNX1 mutations. CSF3R and RUNX1 mutations induce elevated proliferation of CD34+ cells.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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