TY  - JOUR
A1  - Bortnick, Rachel
A1  - Wlodarski, Marcin W.
A1  - Haas, Valerie de
A1  - Moerloose, Barbara de
A1  - Dworzak, Michael
A1  - Hasle, Henrik
A1  - Masetti, Riccardo
A1  - Starý, Jan
A1  - Turkiewicz, Dominik
A1  - Ussowicz, Marek
A1  - Kozyra, Emilia J.
A1  - Albert, Michael
A1  - Bader, Peter
A1  - Bordon, Victoria
A1  - Cario, Gunnar
A1  - Beier, Rita
A1  - Schulte, Johannes Hubertus
A1  - Bresters, Dorine
A1  - Müller, Ingo
A1  - Pichler, Herbert
A1  - Sedlacek, Petr
A1  - Sauer, Martin Günther
A1  - Zecca, Marco
A1  - Göhring, Gudrun
A1  - Yoshimi, Ayami
A1  - Nöllke, Peter
A1  - Erlacher, Miriam
A1  - Locatelli, Franco
A1  - Niemeyer, Charlotte
A1  - Strahm, Brigitte
T1  - Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
T2  - Bone marrow transplantation
N2  - 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.
KW  - Paediatrics
KW  - Stem-cell therapies
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63257
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-632575
SN  - 1476-5365
N1  - Open Access funding enabled and organized by Projekt DEAL.
N1  - 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.
VL  - 56.2021
IS  - 11
SP  - 2732
EP  - 2741
PB  - Springer Nature
CY  - London
ER  -