{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:01:48Z","timestamp":1790413308974,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T00:00:00Z","timestamp":1585180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acute myeloid leukemia with myelodysplasia\u2010related changes (AML\u2010MRC) are poor outcome leukemias. Its diagnosis is based on clinical, cytogenetic, and cytomorphologic criteria, last criterion being sometimes difficult to assess. A high frequency of <jats:italic>ASXL1<\/jats:italic> mutations have been described in this leukemia. We sequenced <jats:italic>ASXL1<\/jats:italic> gene mutations in 61 patients with AML\u2010MRC and 46 controls with acute myeloid leukemia without other specifications (AML\u2010NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated with <jats:italic>ASXL1<\/jats:italic> mutational status. Mutated <jats:italic>ASXL1<\/jats:italic> (<jats:italic>ASXL1+<\/jats:italic>) was observed in 31% of patients with AML\u2010MRC compared to 4.3% in AML\u2010NOS. Its presence in AML\u2010MRC was associated with older age, a previous history of myelodysplastic syndrome (MDS) or myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN), leukocytosis, presence of micromegakaryocytes in bone marrow, lower number of blasts in bone marrow, myelomonocytic\/monocytic morphological features and normal karyotype.\u00a0<jats:italic>ASXL1<\/jats:italic> mutation was not observed in patients with myelodysplastic syndrome\u2010related cytogenetic abnormalities or <jats:italic>TP53<\/jats:italic> mutations. Differences in terms of overall survival were found only in AML\u2010MRC patients\u00a0without prior MDS or MDS\/MPN and with intermediate\u2010risk karyotype, having <jats:italic>ASXL1+<\/jats:italic> patients a worst outcome than <jats:italic>ASXL1\u2212<\/jats:italic>. We conclude that the <jats:italic>ASXL1<\/jats:italic> mutation frequency is high in AML\u2010MRC patients being its presence associated with specific characteristics including morphological signs of dysplasia. This association raises the possible role of <jats:italic>ASXL1<\/jats:italic> as a surrogate marker in AML\u2010MRC, which could facilitate the diagnosis of patients within this group when the karyotype is normal, and especially when the assessment of multilineage dysplasia morphologically is difficult. This mutation could be used as a worst outcome marker in de novo\u00a0AML\u2010MRC with intermediate\u2010risk karyotype.<\/jats:p>","DOI":"10.1002\/cam4.2947","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T08:39:12Z","timestamp":1585211952000},"page":"3637-3646","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["<i>ASXL1<\/i> mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia\u2010related changes and normal karyotype"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3022-3427","authenticated-orcid":false,"given":"Concepci\u00f3n","family":"Prats\u2010Mart\u00edn","sequence":"first","affiliation":[{"name":"Department of Hematology Hospital Universitario Virgen del Roc\u00edo Instituto de Biomedicina de Sevilla (IBIS\/CISC\/CIBERONC) Universidad de Sevilla Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-7875","authenticated-orcid":false,"given":"Sergio","family":"Burillo\u2010Sanz","sequence":"additional","affiliation":[{"name":"Department of Immunology Hospital Universitario Virgen del Roc\u00edo. 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