Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

Journal article

Publication Details

Author(s): Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R, Dworzak M, Schmugge M, Van Den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kuehl JS, Sykora KW, Albert MH, Przychodzien B, Maciejewski JP, Schwarz S, Goehring G, Schlegelberger B, Cseh A, Noellke P, Yoshimi A, Locatelli F, Baumann I, Strahm B, Niemeyer CM
Journal: Blood
Publication year: 2016
Volume: 127
Journal issue: 11
Pages range: 1387-97; quiz 1518
ISSN: 0006-4971


Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We investigated 426 children and adolescents with primary myelodysplastic syndrome (MDS) and 82 cases with secondary MDS enrolled in 2 consecutive prospective studies of the European Working Group of MDS in Childhood (EWOG-MDS) conducted in Germany over a period of 15 years. Germline GATA2 mutations accounted for 15% of advanced and 7% of all primary MDS cases, but were absent in children with MDS secondary to therapy or acquired aplastic anemia. Mutation carriers were older at diagnosis and more likely to present with monosomy 7 and advanced disease compared with wild-type cases. For stratified analysis according to karyotype, 108 additional primary MDS patients registered with EWOG-MDS were studied. Overall, we identified 57 MDS patients with germline GATA2 mutations. GATA2 mutations were highly prevalent among patients with monosomy 7 (37%, all ages) reaching its peak in adolescence (72% of adolescents with monosomy 7). Unexpectedly, monocytosis was more frequent in GATA2-mutated patients. However, when adjusted for the selection bias from monosomy 7, mutational status had no effect on the hematologic phenotype. Finally, overall survival and outcome of hematopoietic stem cell transplantation (HSCT) were not influenced by mutational status. This study identifies GATA2 mutations as the most common germline defect predisposing to pediatric MDS with a very high prevalence in adolescents with monosomy 7. GATA2 mutations do not confer poor prognosis in childhood MDS. However, the high risk for progression to advanced disease must guide decision-making toward timely HSCT.

FAU Authors / FAU Editors

Schwarz, Susanne Dr.
Präklinisches Experimentelles Tierzentrum (PETZ)

External institutions with authors

Aarhus University
Albert-Ludwigs-Universität Freiburg
Charité - Universitätsmedizin Berlin
Cleveland Clinic
Erasmus University Medical Center
Hannover Medical School / Medizinische Hochschule Hannover (MHH)
Hospital Sant Joan de Déu Barcelona
Istituto di ricovero e cura a carattere scientifico (IRCCS)
Klinikverbund Südwest (Sindelfingen-Böblingen, Calw, Nagold, Leonberg, Herrenberg)
Leiden University
Ludwig-Maximilians-Universität (LMU)
Medizinische Universität Wien
Ospedale Pediatrico Bambino Gesu
Our Lady's Children's Hospital
Sahlgrenska University Hospital / Sahlgrenska Universitetssjukhuset
Universitäts-Kinderspital Zürich
University Hospital Ghent
University of Bologna / Università di Bologna
Univerzita Karlova v Praze / Charles University in Prague
Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu

How to cite

Wlodarski, M.W., Hirabayashi, S., Pastor, V., Stary, J., Hasle, H., Masetti, R.,... Niemeyer, C.M. (2016). Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood, 127(11), 1387-97; quiz 1518.

Wlodarski, Marcin W., et al. "Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents." Blood 127.11 (2016): 1387-97; quiz 1518.


Last updated on 2018-10-10 at 08:25