Impact of mutational studies on the diagnosis and the outcome of high-risk myelodysplastic syndromes and secondary acute myeloid leukemia patients treated with 5-azacytidine
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- dc.contributor.author Cabezón, Marta
- dc.contributor.author Bargay, Joan
- dc.contributor.author Xicoy, Blanca
- dc.contributor.author García, Olga
- dc.contributor.author Borràs, Josep M.
- dc.contributor.author Tormo, Mar
- dc.contributor.author Marcé, Sílvia
- dc.contributor.author Pedro Olive, Carme
- dc.contributor.author Valcárcel, David
- dc.contributor.author Jiménez, Maria-José
- dc.contributor.author Guàrdia, Ramón
- dc.contributor.author Valcárcel, David
- dc.contributor.author Jiménez, Maria-José
- dc.contributor.author Palomo, Laura
- dc.contributor.author Brunet, Salut
- dc.contributor.author Vall-llovera, Ferrán
- dc.contributor.author García, Antonio
- dc.contributor.author Feliu, Evarist
- dc.contributor.author Zamora, Lurdes
- dc.contributor.author CETLAM Group
- dc.date.accessioned 2019-07-03T06:35:13Z
- dc.date.available 2019-07-03T06:35:13Z
- dc.date.issued 2018
- dc.description.abstract Myelodysplastic syndromes (MDS) are stem cell disorders caused by various gene abnormalities. We performed targeted deep sequencing in 39 patients with high-risk MDS and secondary acute myeloid leukemia (sAML) at diagnosis and follow-up (response and/or relapse), with the aim to define their mutational status, to establish if specific mutations are biomarkers of response to 5-azacytidine (AZA) and/or may have impact on survival. Overall, 95% of patients harbored at least one mutation. TP53, DNMT3A and SRSF2 were the most frequently altered genes. Mutations in TP53 correlated with higher risk features and shorter overall survival (OS) and progression free survival (PFS) in univariate analysis. Patients with SRSF2 mutations were associated with better OS and PFS. Response rate was 55%; but we could not correlate the presence of TET2 and TP53 mutations with AZA response. Patients with sAML presented more variations than patients with high-risk MDS, and usually at relapse the number of mutations increased, supporting the idea that in advanced stages of the disease there is a greater genomic complexity. These results confirm that mutation analysis can add prognostic value to high-risk MDS and sAML patients, not only at diagnosis but also at follow-up.
- dc.format.mimetype application/pdf
- dc.identifier.citation Cabezón M, Bargay J, Xicoy B, García O, Borrás J, Tormo M. et al. Impact of mutational studies on the diagnosis and the outcome of high-risk myelodysplastic syndromes and secondary acute myeloid leukemia patients treated with 5-azacytidine. Oncotarget. 2018 Apr 10;9(27):19342-19355. DOI: 10.18632/oncotarget.25046
- dc.identifier.doi http://dx.doi.org/10.18632/oncotarget.25046
- dc.identifier.issn 1949-2553
- dc.identifier.uri http://hdl.handle.net/10230/41917
- dc.language.iso eng
- dc.publisher Impact Journal
- dc.rights Copyright : © 2018 Cabezón et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri https://creativecommons.org/licenses/by/3.0/
- dc.subject.keyword 5-azacytidine
- dc.subject.keyword Myelodysplastic syndromes
- dc.subject.keyword Prognostic factors
- dc.subject.keyword Secondary acute myeloid leukemia
- dc.subject.keyword Targeted deep sequencing
- dc.title Impact of mutational studies on the diagnosis and the outcome of high-risk myelodysplastic syndromes and secondary acute myeloid leukemia patients treated with 5-azacytidine
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion