GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects

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 deficien...

ver descrição completa

Detalhes bibliográficos
Autores: Kotmayer, Lili, Romero Moya, Damià, Marin-Bejar, Oskar, Kozyra, Emilia, Català, Albert, Bigas Salvans, Anna, Wlodarski, Marcin W, Bödör, Csaba, Giorgetti, Alessandra
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/191099
Acesso em linha:https://hdl.handle.net/2445/191099
Access Level:acceso abierto
Palavra-chave:Leucèmia mieloide
Proteïnes
Mutació (Biologia)
Myeloid leukemia
Proteins
Mutation (Biology)
id ES_d8cf81bc5f1dd28a8d63cc9cd81edd26
oai_identifier_str oai:diposit.ub.edu:2445/191099
network_acronym_str ES
network_name_str España
repository_id_str
spelling GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospectsKotmayer, LiliRomero Moya, DamiàMarin-Bejar, OskarKozyra, EmiliaCatalà, AlbertBigas Salvans, AnnaWlodarski, Marcin WBödör, CsabaGiorgetti, AlessandraLeucèmia mieloideProteïnesMutació (Biologia)Myeloid leukemiaProteinsMutation (Biology)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.John Wiley & Sons2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/191099Articles publicats en revistes (Patologia i Terapèutica Experimental)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésVersió postprint del document publicat a: https://doi.org/10.1111/bjh.18330British Journal of Haematology, 2022, vol. 199, num. 4, p. 482-495https://doi.org/10.1111/bjh.18330info:eu-repo/grantAgreement/EC/H2020/739593cc by-nc-nd (c) Kotmayer, Lili et al., 2022https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1910992026-05-27T06:46:51Z
dc.title.none.fl_str_mv GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
title GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
spellingShingle GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
Kotmayer, Lili
Leucèmia mieloide
Proteïnes
Mutació (Biologia)
Myeloid leukemia
Proteins
Mutation (Biology)
title_short GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
title_full GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
title_fullStr GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
title_full_unstemmed GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
title_sort GATA2 deficiency and MDS/AML: experimental strategies for disease modelling and future therapeutic prospects
dc.creator.none.fl_str_mv Kotmayer, Lili
Romero Moya, Damià
Marin-Bejar, Oskar
Kozyra, Emilia
Català, Albert
Bigas Salvans, Anna
Wlodarski, Marcin W
Bödör, Csaba
Giorgetti, Alessandra
author Kotmayer, Lili
author_facet Kotmayer, Lili
Romero Moya, Damià
Marin-Bejar, Oskar
Kozyra, Emilia
Català, Albert
Bigas Salvans, Anna
Wlodarski, Marcin W
Bödör, Csaba
Giorgetti, Alessandra
author_role author
author2 Romero Moya, Damià
Marin-Bejar, Oskar
Kozyra, Emilia
Català, Albert
Bigas Salvans, Anna
Wlodarski, Marcin W
Bödör, Csaba
Giorgetti, Alessandra
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Leucèmia mieloide
Proteïnes
Mutació (Biologia)
Myeloid leukemia
Proteins
Mutation (Biology)
topic Leucèmia mieloide
Proteïnes
Mutació (Biologia)
Myeloid leukemia
Proteins
Mutation (Biology)
description 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.
publishDate 2022
dc.date.none.fl_str_mv 2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/191099
url https://hdl.handle.net/2445/191099
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1111/bjh.18330
British Journal of Haematology, 2022, vol. 199, num. 4, p. 482-495
https://doi.org/10.1111/bjh.18330
info:eu-repo/grantAgreement/EC/H2020/739593
dc.rights.none.fl_str_mv cc by-nc-nd (c) Kotmayer, Lili et al., 2022
https://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc-nd (c) Kotmayer, Lili et al., 2022
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv Articles publicats en revistes (Patologia i Terapèutica Experimental)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869421231919333376
score 15,301603

Registos relacionados