Acquired genetic abnormalities predict outcome in patients with GATA2 deficiency


leukemic transformation,

clonal hematopoiesis,


genotype-phenotype correlation,

Laétitia Largeaud team IGGALD– Impact of genetic alterations on acute leukemia development

This work describes 78 patients with GATA2 deficiency followed in France and Belgium. GATA2 is a very important protein for generating blood cells. Defects in GATA2 predispose to immune deficiency and the development of blood cancers at a young age. We first observed correlations between the type of GATA2 alterations and clinical aspects. Indeed, truncated proteins are associated with chronic infections and size-modified proteins with leukaemic development. Patients were then classified according to the morphological appearance of their bone marrow. The search for acquired genetic abnormalities revealed numerous mutations in the STAG2 gene correlating with low leukaemia progression. Conversely, mutations in certain genes (SETBP1, RAS pathway and RUNX1) are identified during leukaemic progression. This study paves the way for better monitoring of progression through biology.

This work allows us to understand the importance of monitoring acquired abnormalities in patients by taking into account clonal dynamics, but also to understand the mechanisms of transformation into leukaemia induced by acquired abnormalities.

Discover the published article

Haematologica. 2023 Feb 2.doi: 10.3324/haematol.2022.282250. Online ahead of print.
Somatic genetic alterations predict haematological progression in GATA2 deficiency
Laetitia Largeaud, Matthew Collin, Nils Monselet, Francois Vergez, Vincent Fregona, Lise Larcher, Pierre Hirsch, Nicolas Duployez, Audrey Bidet, Isabelle Luquet, Jacinta Bustamante, Stephanie Dufrechou, Nais Prade, Marie Nolla, Camille Hamelle, Suzanne Tavitian, Christophe Habib, Mateo Meynier, Christine Bellanne-Chantelot, Jean Donadieu, Flore Sicre De Fontbrune, Claire Fieschi, Alina Ferster, Francois Delhommeau, Eric Delabesse, Marlene Pasquet

Collaborations and acknowledgements


  • Association 111 des arts,
  • Toulouse Recherche Enfant Cancer,
  • INCA,
  • Association Constancelapetiteguerriereastronaute


  • France : Dr J Donadieu, registre des neutropénies,
  • UK : Prof Matthew Collin, Human Dendritic Cell Laboratory, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
Centre de Recherches en Cancérologie de Toulouse

Centre de Recherches contre le Cancer de Toulouse (Oncopole)

Toulouse - FR

Nous contacter

+33 5 82 74 15 75

Nous rejoindre ?

Pin It on Pinterest