Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome

• Authors: NOVÁKOVÁ Michaela; ŽALIOVÁ Markéta; SUKOVÁ Martina; WLODARSKI Marcin; JANDA Aleš; FROŇKOVÁ Eva; CAMPR Vít; LEJHANCOVÁ Kateřina; ZAPLETAL Ondřej; POSPÍŠILOVÁ Dagmar; ČERNÁ Zdeňka; KUHN Tomáš; ŠVEC Peter; PELKOVÁ Vendula; ZEMANOVÁ Zuzana; KERNDRUP Gitte; HEUVEL-EIBRINK Marry van den; VELDEN Vincent van der; NIEMEYER Charlotte; KALINA Tomáš; TRKA Jan; STARÝ Jan; HRUŠÁK Ondřej; MEJSTŘÍKOVÁ Ester
• Year of publication: 2016
• Type: Article in Periodical
• Magazine / Source: Haematologica
• MU Faculty or unit: Faculty of Medicine

Web

• http://www.haematologica.org/content/101/6/707.full.pdf+html
• http://www.haematologica.org/content/haematol/early/2016/03/22/haematol.2015.137711.full.pdf

• Doi: http://dx.doi.org/10.3324/haematol.2015.137711
• Field: Paediatry
• Keywords: ACUTE MYELOID-LEUKEMIA; REFRACTORY CYTOPENIA; APLASTIC-ANEMIA; FLOW-CYTOMETRY; IMMUNOSUPPRESSIVE THERAPY; EUROPEAN LEUKEMIANET; MONOMAC SYNDROME; MUTATIONS; CHILDREN; DISEASE

Attached files

• 2016_06_Haematologica_Loss_of_B_cells_707.full.pdf

• Description: 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 naive cells).