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dc.creatorPrats-Martín, Concepciónes
dc.creatorBurillo-Sanz, Sergioes
dc.creatorMorales-Camacho, Rosario M.es
dc.creatorPérez-López, Olgaes
dc.creatorSuito, Milagroses
dc.creatorVargas de los Monteros, María Teresaes
dc.creatorCaballero Velázquez, Teresaes
dc.creatorPérez Simón, José Antonioes
dc.date.accessioned2023-04-21T11:45:27Z
dc.date.available2023-04-21T11:45:27Z
dc.date.issued2020
dc.identifier.citationPrats-Martín, C., Burillo-Sanz, S., Morales-Camacho, R.M., Pérez-López, O., Suito, M., Vargas de los Monteros, M.T.,...,Pérez Simón, J.A. (2020). ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotype. Cancer Medicine, 9 (11), 3637-3646. https://doi.org/10.1002/cam4.2947.
dc.identifier.issn2045-7634es
dc.identifier.urihttps://hdl.handle.net/11441/144745
dc.description.abstractAcute myeloid leukemia with myelodysplasia-related changes (AML-MRC) 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 ASXL1 mutations have been described in this leukemia. We sequenced ASXL1 gene mutations in 61 patients with AML-MRC and 46 controls with acute myeloid leukemia without other specifications (AML-NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated with ASXL1 mutational status. Mutated ASXL1 (ASXL1+) was observed in 31% of patients with AML-MRC compared to 4.3% in AML-NOS. Its presence in AML-MRC 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. ASXL1 mutation was not observed in patients with myelodysplastic syndrome-related cytogenetic abnormalities or TP53 mutations. Differences in terms of overall survival were found only in AML-MRC patients without prior MDS or MDS/MPN and with intermediate-risk karyotype, having ASXL1+ patients a worst outcome than ASXL1−. We conclude that the ASXL1 mutation frequency is high in AML-MRC patients being its presence associated with specific characteristics including morphological signs of dysplasia. This association raises the possible role of ASXL1 as a surrogate marker in AML-MRC, 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 AML-MRC with intermediate-risk karyotype.es
dc.formatapplication/pdfes
dc.format.extent10 p.es
dc.language.isoenges
dc.publisherWiley Open Accesses
dc.relation.ispartofCancer Medicine, 9 (11), 3637-3646.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectASXL1es
dc.subjectAML-MRCes
dc.subjectMyelodysplasiaes
dc.subjectMyeloid leukemiaes
dc.titleASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotypees
dc.typeinfo:eu-repo/semantics/articlees
dcterms.identifierhttps://ror.org/03yxnpp24
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Citología e Histología Normal y Patológicaes
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Medicinaes
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1002/cam4.2947es
dc.identifier.doi10.1002/cam4.2947es
dc.journaltitleCancer Medicinees
dc.publication.volumen9es
dc.publication.issue11es
dc.publication.initialPage3637es
dc.publication.endPage3646es

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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
Except where otherwise noted, this item's license is described as: Attribution-NonCommercial-NoDerivatives 4.0 Internacional