282 Familial myelodysplastic syndrome/acute myeloid leukemia (MDS/AML): Report of 2 families

Bastard, A. Stamatoullas; Loschi, Michaël; Figeac, Martin; Penther, Dominique; Callat, M.P.; Leprêtre, Stéphane; Lenain, Pascal; Contentin, Nathalie; Tilly, H; Bastard, Christian

doi:10.1016/s0145-2126(11)70284-3

Leukemia Research

2011

DOI: 10.1016/s0145-2126(11)70284-3

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282 Familial myelodysplastic syndrome/acute myeloid leukemia (MDS/AML): Report of 2 families

A. Stamatoullas Bastard¹,

Michaël Loschi²,

Martin Figeac³

et al.

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2024

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Hematological phenotypes in GATA2 deficiency syndrome arise from secondary injuries and maladaptation to proliferation

Fernandez-Orth,

Koyunlar,

Weiss

et al. 2024

Preprint

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The GATA2 transcription factor is a pivotal regulator of hematopoiesis. Disruptions in the GATA2 gene drive severe hematologic abnormalities and are associated with an increased risk of myelodysplastic syndromes and acute myeloid leukemia; however, the mechanisms underlying the pathophysiology of GATA2 deficiency remain still unclear. We developed two different mouse models that are based on serial and limiting donor cell transplantation of (aged) GATA2 haploinsufficient cells and mirror the symptoms of GATA2 deficiency. Similar to what has been observed in patients, our models show that GATA2 haploinsufficiency leads to B lymphopenia, monocytopenia, lethal bone marrow failure (BMF), myelodysplasia and leukemia. Leukemia arises exclusively as a result of BMF, driven by somatic aberrations and accompanied by increased Myc target expression and genomic instability. These findings were confirmed in human GATA2+/- K562 cell lines showing defects in cytokinesis and are in line with the fact that monosomy 7 and trisomy 8 are frequent events in patients with MDS.

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Hematological phenotypes in GATA2 deficiency syndrome arise from secondary injuries and maladaptation to proliferation

Fernandez-Orth,

Koyunlar,

Weiss

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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282 Familial myelodysplastic syndrome/acute myeloid leukemia (MDS/AML): Report of 2 families

Cited by 1 publication

References 0 publications

Hematological phenotypes in GATA2 deficiency syndrome arise from secondary injuries and maladaptation to proliferation

Hematological phenotypes in GATA2 deficiency syndrome arise from secondary injuries and maladaptation to proliferation

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