Rachel Bortnick, Marcin W. Wlodarski, Valerie de Haas, Barbara de Moerloose, Michael Dworzak, Henrik Hasle, Riccardo Masetti, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Emilia J. Kozyra, Michael Albert, Peter Bader, Victoria Bordon, Gunnar Cario, Rita Beier, Johannes Hubertus Schulte, Dorine Bresters, Ingo Müller, Herbert Pichler, Petr Sedlacek, Martin Günther Sauer, Marco Zecca, Gudrun Göhring, Ayami Yoshimi, Peter Nöllke, Miriam Erlacher, Franco Locatelli, Charlotte Niemeyer, Brigitte Strahm
- 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.
MetadatenVerfasserangaben: | 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 |
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URN: | urn:nbn:de:hebis:30:3-632575 |
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DOI: | https://doi.org/10.1038/s41409-021-01374-y |
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ISSN: | 1476-5365 |
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Titel des übergeordneten Werkes (Englisch): | Bone marrow transplantation |
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Verlag: | Springer Nature |
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Verlagsort: | London |
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Dokumentart: | Wissenschaftlicher Artikel |
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Sprache: | Englisch |
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Datum der Veröffentlichung (online): | 09.07.2021 |
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Datum der Erstveröffentlichung: | 09.07.2021 |
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Veröffentlichende Institution: | Universitätsbibliothek Johann Christian Senckenberg |
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Beteiligte Körperschaft: | EWOG-MDS |
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Datum der Freischaltung: | 25.08.2022 |
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Freies Schlagwort / Tag: | Paediatrics; Stem-cell therapies |
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Jahrgang: | 56.2021 |
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Ausgabe / Heft: | 11 |
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Seitenzahl: | 10 |
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Erste Seite: | 2732 |
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Letzte Seite: | 2741 |
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Bemerkung: | Open Access funding enabled and organized by Projekt DEAL. |
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Bemerkung: | 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. |
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HeBIS-PPN: | 501657614 |
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Institute: | Medizin / Medizin |
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DDC-Klassifikation: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
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Sammlungen: | Universitätspublikationen |
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Lizenz (Deutsch): | Creative Commons - Namensnennung 4.0 |
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