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Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

  • 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.
Metadaten
Author:Rachel Bortnick, Marcin W. WlodarskiORCiDGND, Valerie de HaasORCiD, Barbara de MoerlooseORCiD, Michael DworzakORCiD, Henrik HasleORCiD, Riccardo MasettiORCiD, Jan StarýORCiD, Dominik Turkiewicz, Marek UssowiczORCiD, Emilia J. KozyraORCiDGND, Michael AlbertORCiDGND, Peter BaderORCiDGND, Victoria BordonORCiD, Gunnar CarioORCiDGND, Rita BeierORCiDGND, Johannes Hubertus SchulteORCiDGND, Dorine BrestersORCiD, Ingo MüllerORCiDGND, Herbert PichlerORCiD, Petr SedlacekORCiD, Martin Günther SauerGND, Marco ZeccaORCiD, Gudrun GöhringORCiDGND, Ayami YoshimiORCiDGND, Peter NöllkeORCiDGND, Miriam ErlacherORCiDGND, Franco LocatelliORCiDGND, Charlotte NiemeyerORCiDGND, Brigitte StrahmORCiDGND
URN:urn:nbn:de:hebis:30:3-632575
DOI:https://doi.org/10.1038/s41409-021-01374-y
ISSN:1476-5365
Parent Title (English):Bone marrow transplantation
Publisher:Springer Nature
Place of publication:London
Document Type:Article
Language:English
Date of Publication (online):2021/07/09
Date of first Publication:2021/07/09
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Contributing Corporation:EWOG-MDS
Release Date:2022/08/25
Tag:Paediatrics; Stem-cell therapies
Volume:56.2021
Issue:11
Page Number:10
First Page:2732
Last Page:2741
Note:
Open Access funding enabled and organized by Projekt DEAL.
Note:
This work was generated within the European Reference Network for Paediatric Cancer (PAEDCAN). It was supported by the German Federal Ministry of Education and Research (BMBF) 01GM1911A “MyPred - Network for young individuals with syndromes predisposing to myeloid malignancies” to BS, CMN, GG, ME, AY, MW, Fritz-Thyssen Foundation 10.17.1.026MN, ERAPERMED 01KU1904, Deutsche Krebshilfe 109005, and Deutsche Kinderkrebsstiftung DKS2017.03 to MW.
HeBIS-PPN:501657614
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (German):License LogoCreative Commons - Namensnennung 4.0