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Case report: Successful allogeneic stem cell transplantation in children with novel GATA2-deficient B-cell acute lymphoblastic leukemia

 Last Update: 2022-10-02
 Source: Internet
 Author: User

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GATA-binding protein 2 (GATA2) is a transcription factor responsible for regulating blood cell proliferation and differentiation and maintaining hematopoietic stem cells

Although the effect of GATA2 deficiency on the development of myeloid tumors has been well documented, B-cell precursor acute lymphoblastic leukemia (BCP-ALL) has been reported in only one patient with monocytopenia and mycobacterial infection (MonoMAC)

Here, we describe a successful bone marrow transplant

Flow cytometry shows deep monocytopenia, lymphopenia, B lymphocyte deficiency, significant reduction in NK cells, thymic T lymphocytogenesis, slight defects in T cell maturation, and the absence of TCRγδ+ T cells in exon 5 with possible pathogenic heterozygous heterozolic variant GATA2 (NM_032638.

Allogeneic hematopoietic stem cell transplantation with a reduced toxicity modulation protocol using a matched sibling donor

References:

Heropolitańska-Pliszka E, Piątosa B, Szmydki-Baran A, Kuczborska K, Miarka-Walczyk K, Pastorczak A, Młynarski W, Sędek Ł, Szczepański T, Ussowicz M.

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