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Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome
M. Nováková, M. Žaliová, M. Suková, M. Wlodarski, A. Janda, E. Froňková, V. Campr, K. Lejhancová, O. Zapletal, D. Pospíšilová, Z. Černá, T. Kuhn, P. Švec, V. Pelková, Z. Zemanová, G. Kerndrup, M. van den Heuvel-Eibrink, V. van der Velden, C....
Jazyk angličtina Země Itálie
Typ dokumentu časopisecké články
Grantová podpora
NT14534
MZ0
CEP - Centrální evidence projektů
NV15-28525A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
Zdroj
NLK
Directory of Open Access Journals
od 1994
Free Medical Journals
od 1994
Freely Accessible Science Journals
od 1994
PubMed Central
od 2009
Europe PubMed Central
od 2009
Open Access Digital Library
od 1994-01-01
ROAD: Directory of Open Access Scholarly Resources
od 1996
- MeSH
- aplastická anemie diagnóza etiologie MeSH
- B-lymfocyty metabolismus MeSH
- biologické markery MeSH
- buňky kostní dřeně metabolismus patologie MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- fenotyp MeSH
- imunofenotypizace MeSH
- kojenec MeSH
- kostní dřeň metabolismus patologie MeSH
- lidé MeSH
- lymfopenie diagnóza MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- myelodysplastické syndromy diagnóza genetika MeSH
- myeloidní buňky metabolismus MeSH
- počet lymfocytů MeSH
- předškolní dítě MeSH
- prekurzorové B-lymfoidní buňky metabolismus MeSH
- ROC křivka MeSH
- T-lymfocyty - podskupiny imunologie metabolismus MeSH
- transkripční faktor GATA2 nedostatek MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).
Center for Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany
Department of Immunology Erasmus MC Rotterdam the Netherlands
Department of Pathology Aarhus University Hospital Denmark
Department of Pathology and Molecular Medicine University Hospital Motol Prague Czech Republic
Department of Pediatric Hematology and Oncology University Hospital Bratislava Slovakia
Department of Pediatric Hematology Children's University Hospital Brno Czech Republic
Department of Pediatrics Charles University University Hospital Hradec Králové Czech Republic
Department of Pediatrics Ostrava University Hospital Ostrava Czech Republic
Department of Pediatrics Palacky University and University Hospital Olomouc Czech Republic
Department of Pediatrics University Hospital Pilsen Czech Republic
Citace poskytuje Crossref.org
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- $a GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).
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