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dc.contributor.author | Rodríguez-Vicente, Ana E. | |
dc.contributor.author | Forster, Jade | |
dc.contributor.author | Parker, Helen | |
dc.contributor.author | Parker, Anton | |
dc.contributor.author | Chaplin, Tracy | |
dc.contributor.author | Gardiner, Anne | |
dc.contributor.author | Steele, Andrew J. | |
dc.contributor.author | Collins, Andrew | |
dc.contributor.author | Young, Brian D. | |
dc.contributor.author | Skowronska, Anna | |
dc.contributor.author | Catovsky, Daniel | |
dc.contributor.author | Stankovic, Tatjana | |
dc.contributor.author | Oscier, David G. | |
dc.contributor.author | Strefford, Jonathan C. | |
dc.contributor.author | Rose-Zerilli, Matthew J.J. | |
dc.date.accessioned | 2024-01-25T09:29:54Z | |
dc.date.available | 2024-01-25T09:29:54Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | Matthew, J.J., Rose-Zerilli, J.F., Parker, H., Parker, A., Rodríguez, A.E., Chaplin, T., Gardiner, A., Steele, A.J., Collins, A., Young, B.D., Skowronska, A., Catovsky, D., Stankovic, T., Oscier, D.G., Strefford, J.C. (2013). ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial. Haematologica, 99 (4) pp 736-742. https://doi.org/10.3324/haematol.2013.098574 | es_ES |
dc.identifier.issn | 0390-6078 | |
dc.identifier.uri | http://hdl.handle.net/10366/154680 | |
dc.description.abstract | [EN] ATM mutation and BIRC3 deletion and/or mutation have independently been shown to have prognostic significance in chronic lymphocytic leukemia. However, the relative clinical importance of these abnormalities in patients with a deletion of 11q encompassing the ATM gene has not been established. We screened a cohort of 166 patients enriched for 11q-deletions for ATM mutations and BIRC3 deletion and mutation and determined the overall and progression-free survival among the 133 of these cases treated within the UK LRF CLL4 trial. SNP6.0 profiling demonstrated that BIRC3 deletion occurred in 83% of 11q-deleted cases and always co-existed with ATM deletion. For the first time we have demonstrated that 40% of BIRC3-deleted cases have concomitant deletion and mutation of ATM. While BIRC3 mutations were rare, they exclusively occurred with BIRC3 deletion and a wildtype residual ATM allele. In 11q-deleted cases, we confirmed that ATM mutation was associated with a reduced overall and progression-free survival comparable to that seen with TP53 abnormalities, whereas BIRC3 deletion and/or mutation had no impact on overall and progression-free survival. In conclusion, in 11q-deleted patients treated with first-line chemotherapy, ATM mutation rather than BIRC3 deletion and/or mutation identifies a subgroup with a poorer outcome. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Sociedad Argentina de Hematología | es_ES |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Mutación | es_ES |
dc.subject | supervivencia | es_ES |
dc.subject | Leucemia linfocítica crónica | es_ES |
dc.subject | ensayo clínico | es_ES |
dc.subject.mesh | Survival | * |
dc.subject.mesh | Mutation | * |
dc.subject.mesh | Leukemia, Lymphoid | * |
dc.subject.mesh | Clinical Trial | * |
dc.title | ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.relation.publishversion | https://doi.org/10.3324/haematol.2013.098574 | es_ES |
dc.subject.unesco | 2410.02 Anatomía Humana | es_ES |
dc.identifier.doi | 10.3324/haematol.2013.098574 | |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es_ES |
dc.identifier.essn | 1592-8721 | |
dc.journal.title | Haematologica | es_ES |
dc.volume.number | 99 | es_ES |
dc.issue.number | 4 | es_ES |
dc.page.initial | 736 | es_ES |
dc.page.final | 742 | es_ES |
dc.type.hasVersion | info:eu-repo/semantics/publishedVersion | es_ES |
dc.subject.decs | leucemia linfoide | * |
dc.subject.decs | supervivencia | * |
dc.subject.decs | mutación | * |
dc.subject.decs | ensayo clínico | * |