GATA2 deficiency is a heterogeneous multi-system disorder characterized by a high risk of developing myelodysplastic syndrome (MDS) and myeloid leukemia. We analyzed the outcome of 65 patients reported to the registry of the European Working Group (EWOG) of MDS in childhood carrying a germline GATA2 mutation (GATA2mut) who had undergone hematopoietic stem cell transplantation (HSCT). At 5 years the probability of overall survival and disease-free survival (DFS) was 75% and 70%, respectively. Non-relapse mortality and relapse equally contributed to treatment failure. There was no evidence of increased incidence of graft-versus-host-disease or excessive rates of infections or organ toxicities. Advanced disease and monosomy 7 (-7) were associated with worse outcome. Patients with refractory cytopenia of childhood (RCC) and normal karyotype showed an excellent outcome (DFS 90%) compared to RCC and -7 (DFS 67%). Comparing outcome of GATA2mut with GATA2wt patients, there was no difference in DFS in patients with RCC and normal karyotype. The same was true for patients with -7 across morphological subtypes. We demonstrate that HSCT outcome is independent of GATA2 germline mutations in pediatric MDS suggesting the application of standard MDS algorithms and protocols. Our data support considering HSCT early in the course of GATA2 deficiency in young individuals.

Department for Children and Adolescents Division for Stem Cell Transplantation and Immunology University Hospital Frankfurt Frankfurt am Main Frankfurt Germany

Department of Bone Marrow Transplantation Oncology and Hematology Wroclaw Medical University Wroclaw Poland

Department of Hematology St Jude Children's Research Hospital Memphis TN USA

Department of Human Genetics Hannover Medical School Hannover Germany

Department of Pediatric Hematology and Oncology Charles University and University Hospital Motol Prague Czech Republic

Department of Pediatric Hematology and Oncology IRCCS Ospedale Pediatrico Bambino Gesù Sapienza University of Rome Rome Italy

Department of Pediatric Hematology and Oncology University Medical Center Hamburg Eppendorf Hamburg Germany

Department of Pediatric Hematology Oncology and Stem Cell Transplantation Ghent University Hospital Ghent Belgium

Department of Pediatric Oncology and Hematology University of Bologna Bologna Italy

Department of Pediatric Oncology Hematology and Stem Cell Transplantation Charité University Medicine Berlin Berlin Germany

Department of Pediatric Oncology Hematology Skåne University Hospital Lund Sweden

Department of Pediatrics Aarhus University Hospital Skejby Aarhus Denmark

Department of Pediatrics and Adolescent Medicine Division of Pediatric Hematology and Oncology Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

Department of Pediatrics and Adolescent Medicine Division of Pediatric Hematology and Oncology University Hospital of Essen Essen Germany

Department of Pediatrics Christian Albrechts University Kiel and University Medical Center Schleswig Holstein Kiel Germany

Department of Pediatrics Dr von Hauner Children's Hospital University Hospital LMU Munich Germany

Department of Pediatrics St Anna Children's Hospital Medical University of Vienna Vienna Austria

Department of Pediatrics University Hospital Salzburg Paracelsus Medical University Salzburg Austria

German Cancer Consortium Heidelberg and Freiburg Freiburg Germany

Pediatric Hematology and Oncology Hannover Medical School Hannover Germany

Pediatric Hematology Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy

Princess Maxima Center Diagnostic Laboratory DCOG Laboratory Utrecht The Netherlands

Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands

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