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This is emphasized by the establishment of a novel WHO disease category in 2016 called \u201cmyeloid neoplasms with germline predisposition\u201d. 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\u2010operating 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\u2010related MDS, highlighting the importance of developing robust disease preclinical models to improve early detection and clinical decision\u2010making of GATA2 carriers.<\/jats:p>","DOI":"10.1111\/bjh.18330","type":"journal-article","created":{"date-parts":[[2022,6,26]],"date-time":"2022-06-26T22:09:15Z","timestamp":1656281355000},"page":"482-495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["<scp>GATA2<\/scp>\n                    deficiency and\n                    <scp>MDS<\/scp>\n                    \/\n                    <scp>AML<\/scp>\n                    : Experimental strategies for disease modelling and future therapeutic prospects"],"prefix":"10.1111","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5089-7659","authenticated-orcid":false,"given":"Lili","family":"Kotmayer","sequence":"first","affiliation":[{"name":"HCEMM\u2010SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9947-3577","authenticated-orcid":false,"given":"Damia","family":"Romero\u2010Moya","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program Institut d'Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6889-6566","authenticated-orcid":false,"given":"Oskar","family":"Marin\u2010Bejar","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program Institut d'Investigaci\u00f3 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