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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F16%3A10324857" target="_blank" >RIV/00216208:11130/16:10324857 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/16:00090108 RIV/00216208:11110/16:10324857 RIV/00216208:11140/16:10324857 RIV/00216208:11150/16:10324857 and 7 more

Result on the web

<a href="http://dx.doi.org/10.3324/haematol.2015.137711" target="_blank" >http://dx.doi.org/10.3324/haematol.2015.137711</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3324/haematol.2015.137711" target="_blank" >10.3324/haematol.2015.137711</a>

Result language

angličtina

Original language name

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

Original language 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)

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

—

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Haematologica

ISSN

0390-6078

e-ISSN

—

Volume of the periodical

101

Issue of the periodical within the volume

6

Country of publishing house

IT - ITALY

Number of pages

10

Pages from-to

707-716

UT code for WoS article

000379471900025

EID of the result in the Scopus database

2-s2.0-84971578103