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dc.contributor.authorBolli, Nicoloes_ES
dc.contributor.authorManes, Niclaes_ES
dc.contributor.authorMcKerrel, Thomases_ES
dc.contributor.authorJianxiang, Chies_ES
dc.contributor.authorPark, Naomies_ES
dc.contributor.authorGundem, Guneses_ES
dc.contributor.authorQuail, Michael Aes_ES
dc.contributor.authorSathiaseelan, Vijithaes_ES
dc.contributor.authorHerman, Brames_ES
dc.contributor.authorCrawley, Charleses_ES
dc.contributor.authorCraig, Jenny Ies_ES
dc.contributor.authorConte, Nataliees_ES
dc.contributor.authorGrove, Carolynes_ES
dc.contributor.authorPapaemmanuil, Ellies_ES
dc.contributor.authorCampbell, Peter Jes_ES
dc.contributor.authorVarela Egocheaga, Ignacio es_ES
dc.contributor.authorCosteas, Paules_ES
dc.contributor.authorVassiliou, George Ses_ES
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2016-12-16T10:43:21Z
dc.date.available2016-12-16T10:43:21Z
dc.date.issued2015es_ES
dc.identifier.issn0390-6078es_ES
dc.identifier.issn1592-8721es_ES
dc.identifier.urihttp://hdl.handle.net/10902/9812
dc.description.abstractPrognostic stratification is critical for making therapeutic decisions and maximizing survival of patients with acute myeloid leukemia. Advances in the genomics of acute myeloid leukemia have identified several recurrent gene mutations whose prognostic impact is being deciphered. We used HaloPlex target enrichment and Illumina-based next generation sequencing to study 24 recurrently mutated genes in 42 samples of acute myeloid leukemia with a normal karyotype. Read depth varied between and within genes for the same sample, but was predictable and highly consistent across samples. Consequently, we were able to detect copy number changes, such as an interstitial deletion of BCOR, three MLL partial tandem duplications, and a novel KRAS amplification. With regards to coding mutations, we identified likely oncogenic variants in 41 of 42 samples. NPM1 mutations were the most frequent, followed by FLT3, DNMT3A and TET2. NPM1 and FLT3 indels were reported with good efficiency. We also showed that DNMT3A mutations can persist post-chemotherapy and in 2 cases studied at diagnosis and relapse, we were able to delineate the dynamics of tumor evolution and give insights into order of acquisition of variants. HaloPlex is a quick and reliable target enrichment method that can aid diagnosis and prognostic stratification of acute myeloid leukemia patients.es_ES
dc.description.sponsorshipThis project was funded by the Wellcome Trust. NB is a fellow of the European Hematology Association and was supported by the Academy of Medical Sciences. EP is a European Hematology Association Advanced Research Fellow. GV is a Wellcome Trust Senior Fellow in Clinical Science. IV is funded by Spanish Ministerio de Economía y Competitividad subprograma Ramón y Cajal.es_ES
dc.format.extent9 p.es_ES
dc.language.isoenges_ES
dc.publisherFerrata Storti Foundationes_ES
dc.rightsAtribución-NoComercial 3.0 España. © Ferrata Storti Foundation. Niccolo B. Nicla M. Thomas M. et al. 2015. Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol. "Obtained from the Haematologica Journal website http://www.haematologica.org"*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/es/*
dc.sourceHaematologica. 2015 Feb;100(2):214-22es_ES
dc.titleCharacterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocoles_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsopenAccesses_ES
dc.identifier.DOI10.3324/haematol.2014es_ES
dc.type.versionpublishedVersiones_ES


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Atribución-NoComercial 3.0 España. © Ferrata Storti Foundation.  Niccolo B. Nicla M. Thomas M. et al. 2015. Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol. "Obtained from the Haematologica Journal website http://www.haematologica.org"Except where otherwise noted, this item's license is described as Atribución-NoComercial 3.0 España. © Ferrata Storti Foundation. Niccolo B. Nicla M. Thomas M. et al. 2015. Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol. "Obtained from the Haematologica Journal website http://www.haematologica.org"