Somatic genetic alterations predict hematological progression in GATA2 deficiency.

doi:10.3324/haematol.2022.282250

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Article

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

Haematologica - 1 Jun 2023

Largeaud Laetitia, Collin Matthew, Monselet Nils, Vergez Francois, Fregona Vincent, Larcher Lise, Hirsch Pierre, Duployez Nicolas, Bidet Audrey, Luquet Isabelle, Bustamante Jacinta, Dufrechou Stephanie, Prade Nais, Nolla Marie, Hamelle Camille, Tavitian Suzanne, Habib Christophe, Meynier Mateo, Bellanne-Chantelot Christine, Donadieu Jean, De Fontbrune Flore Sicre, Fieschi Claire, Ferster Alina, Delhommeau Francois, Delabesse Eric, Pasquet Marlene

Abstract excerpt

Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients. Hematopoietic stem and progenitor cell phenotypic characterization revealed an exhaustion of myeloid progenitors. Somatic mutations in STAG2, ASXL1 and SETBP1 genes along with cytogenetic...

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Identifiers

PMID: 36727400
DOI: 10.3324/haematol.2022.282250
PMCID: PMC10230419

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Source receipt: pubmed, retrieved 7 Sept 2026.

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