Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F21%3A10429137" target="_blank" >RIV/00064203:_____/21:10429137 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/21:10429137
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Sq4bdVfieX" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Sq4bdVfieX</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41409-021-01374-y" target="_blank" >10.1038/s41409-021-01374-y</a>
Alternative languages
Result language
angličtina
Original language name
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
Original language description
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 (GATA2(mut)) 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 GATA2(mut) with GATA2(wt) 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Bone Marrow Transplantation
ISSN
0268-3369
e-ISSN
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Volume of the periodical
56
Issue of the periodical within the volume
11
Country of publishing house
GB - UNITED KINGDOM
Number of pages
10
Pages from-to
2732-2741
UT code for WoS article
000671526900001
EID of the result in the Scopus database
2-s2.0-85115705936