GATA2 deficiency and MDS/AML : Experimental strategies for disease modelling and future therapeutic prospects
Kotmayer, Lili (Semmelweis University)
Romero-Moya, Damià (Institut d'Investigació Biomèdica de Bellvitge)
Marin-Béjar, Oskar (Institut d'Investigació Biomèdica de Bellvitge)
Kozyra, Emilia (University of Freiburg)
Català, Albert (Hospital Sant Joan de Déu (Esplugues de Llobregat, Catalunya))
Bigas Salvans, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Wlodarski, Marcin W. (St. Jude Children's Research Hospital (Memphis, Estats Units d'Amèrica))
Bödör, Csaba (Semmelweis University)
Giorgetti, Alessandra (Universitat de Barcelona. Departament de Patologia i Terapèutica Experimental)

Date:	2022
Abstract:	The importance of predisposition to leukaemia in clinical practice is being increasingly recognized. This is emphasized by the establishment of a novel WHO disease category in 2016 called "myeloid neoplasms with germline predisposition". A major syndrome within this group is GATA2 deficiency, a heterogeneous immunodeficiency syndrome with a very high lifetime risk to develop myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoietic stem cell transplantation is the only curative option; however, chances of survival decrease with progression of immunodeficiency and MDS evolution. Penetrance and expressivity within families carrying GATA2 mutations is often variable, suggesting that co-operating extrinsic events are required to trigger the disease. Predictive tools are lacking, and intrafamilial heterogeneity is poorly understood; hence there is a clear unmet medical need. On behalf of the ERAPerMed GATA2 HuMo consortium, in this review we describe the genetic, clinical, and biological aspects of familial GATA2-related MDS, highlighting the importance of developing robust disease preclinical models to improve early detection and clinical decision-making of GATA2 carriers.
Grants:	European Commission 739593 European Commission 101029927 Ministerio de Economía y Competitividad PID2020-15591RB-100
Note:	Altres ajuts: La Marató de TV3 (202001-32)
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Acute myeloid leukaemia ; Blood cancer ; GATA2 deficiency ; Myelodysplastic syndromes
Published in:	British Journal of Haematology, Vol. 199 Núm. 4 (november 2022) , p. 482-495, ISSN 1365-2141

DOI: 10.1111/bjh.18330
PMID: 35753998

14 p, 2.9 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Josep Carreras Leukaemia Research Institute
Articles > Research articles
Articles > Published articles