Leukemic development of hemopathies with germline alterations of GATA2

Marlène Pasquet, MD PhD, PU-PH CHU Toulouse

Professor of Pediatric Hematology, Immunology and Oncology, and head of the Pediatric Clinical Research Unit in Pediatric Hematology, Immunology and Oncology at the Toulouse University Hospital, France

Since 2011, I am interested in GATA2 germline mutations identified in a family (3 children and their mother) with AML/MDS and followed in clinic.

Based on our French national GATA2 registry, we initially reported 14 cases then 78 cases in 2018 (Pasquet et al., Blood 2013, Donadieu et al., Hematologica 2018). Today, 140 patients from 75 families are part of this registry, which allows a better understanding of this syndrome.

Key words:

  • Clinical research,
  • Myelodysplastic syndromes,
  • Acute Myeloid Leukemia;
  •  GATA2 transcription factor;
  • Germline mutations,
  • National registry of patients


Toulouse University Hospital; Occitanie Pyrenees-Mediterranean Region; “Les 111 des Arts” Association; French Society for the Fight against Childhood and Adolescent Cancer and Leukemia (SFCE); Laurette Fugain Association; CLPGAA Association (Constance La Petite Guerrière Astronaute l’Association); National League Against Cancer (LNCC).


Pin It on Pinterest