Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

Author:

Wlodarski Marcin W.12,Hirabayashi Shinsuke1,Pastor Victor1,Starý Jan3,Hasle Henrik4,Masetti Riccardo5,Dworzak Michael6,Schmugge Markus7,van den Heuvel-Eibrink Marry8,Ussowicz Marek9,De Moerloose Barbara10,Catala Albert11,Smith Owen P.12,Sedlacek Petr3,Lankester Arjan C.13,Zecca Marco14,Bordon Victoria10,Matthes-Martin Susanne6,Abrahamsson Jonas15,Kühl Jörn Sven16,Sykora Karl-Walter17,Albert Michael H.18,Przychodzien Bartlomiej19,Maciejewski Jaroslaw P.19,Schwarz Stephan20,Göhring Gudrun21,Schlegelberger Brigitte21,Cseh Annámaria1,Noellke Peter1,Yoshimi Ayami1,Locatelli Franco22,Baumann Irith23,Strahm Brigitte1,Niemeyer Charlotte M.12

Affiliation:

1. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany;

2. German Cancer Consortium, Freiburg, Germany, and German Cancer Research Center, Heidelberg, Germany;

3. Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic;

4. Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark;

5. Department of Pediatric Oncology and Hematology, University of Bologna, Bologna, Italy;

6. St. Anna Children's Hospital and Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria;

7. Department of Hematology and Oncology, University Children's Hospital, Zurich, Switzerland;

8. Erasmus Medical Center, Rotterdam, and Dutch Childhood Oncology Group, The Hague, The Netherlands;

9. Department of Pediatric Hematology, Oncology, and BMT, Medical University of Wroclaw, Wroclaw, Poland;

10. Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium;

11. Department of Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain;

12. Paediatric Oncology and Haematology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland;

13. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands;

14. Pediatric Hematology-Oncology, Fondazione Istituti di ricovero e cura a carattere scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy;

15. Pediatric Oncology, Queen Silvias Children's Hospital, Gothenburg, Sweden;

16. Pediatric Oncology, Charité-University Medicine Berlin, Berlin, Germany;

17. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;

18. Department of Pediatric Hematology and Oncology, Dr.v.Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany;

19. Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH;

20. Institute of Pathology, University of Erlangen, Erlangen, Germany;

21. Institute of Human Genetics, Hannover Medical School, Hannover, Germany;

22. Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, University of Pavia, Pavia, Italy; and

23. Department of Pathology, Clinical Center, Böblingen, Germany

Abstract

Key Points Germline GATA2 mutations account for 15% of advanced and 7% of all primary pediatric MDS and do not influence overall survival. The majority (72%) of adolescents with MDS and monosomy 7 carry an underlying GATA2 deficiency.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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