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Mutations in several genes, including <jats:italic><jats:styled-content style=\"fixed-case\">SETBP<\/jats:styled-content>1<\/jats:italic>, were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed <jats:italic><jats:styled-content style=\"fixed-case\">SETBP<\/jats:styled-content>1<\/jats:italic> mutations in 14 patients (4\u00b73%), 7 of whom had \u22127\/del(7q) and 3 had i(17)(q10), cytogenetic markers associated with shortened overall survival and increased risk of leukaemic evolution. <jats:italic><jats:styled-content style=\"fixed-case\">SETBP<\/jats:styled-content>1<\/jats:italic> mutations were frequently acquired at the time of leukaemic evolution, coinciding with increase of leukaemic blasts. These data suggest that <jats:italic><jats:styled-content style=\"fixed-case\">SETBP<\/jats:styled-content>1<\/jats:italic> mutations may play a role in <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content> and chronic myelomonocytic leukaemia disease progression.<\/jats:p>","DOI":"10.1111\/bjh.12491","type":"journal-article","created":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T21:59:38Z","timestamp":1374703178000},"page":"235-239","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Mutations in <i><scp>SETBP<\/scp>1<\/i> are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression"],"prefix":"10.1111","volume":"163","author":[{"given":"Marta","family":"Fernandez\u2010Mercado","sequence":"first","affiliation":[{"name":"LLR Molecular Haematology Unit NDCLS RDM John Radcliffe Hospital Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Pellagatti","sequence":"additional","affiliation":[{"name":"LLR Molecular Haematology Unit NDCLS RDM John Radcliffe Hospital Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Di Genua","sequence":"additional","affiliation":[{"name":"LLR Molecular Haematology Unit NDCLS RDM John Radcliffe Hospital Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jose","family":"Larrayoz","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Navarra Pamplona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nils","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"National Genetics Reference Laboratory Salisbury NHS Foundation Trust Salisbury UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Aranaz","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Navarra Pamplona Spain"},{"name":"National Genetics Reference Laboratory Salisbury NHS Foundation Trust Salisbury UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Burns","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Schuh","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jose","family":"Calasanz","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Navarra Pamplona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas C. 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