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dc.contributor.authorCatovsky, D
dc.date.accessioned2018-07-16T09:10:19Z
dc.date.issued2014-04
dc.identifierhttp://publications.icr.ac.uk/13349/
dc.identifier.citationHAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2014, 99 (4), pp. 736 - 742
dc.identifier.issn0390-6078
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2069
dc.description.abstractATM 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.
dc.format.extent736 - 742
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectRECURRENT GENOMIC ALTERATIONS 11Q DELETION B-CLL GENE INACTIVATION FLUDARABINE P53 CYCLOPHOSPHAMIDE IDENTIFICATION PROGRESSION
dc.titleATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial
dc.typeJournal Article
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2014-04
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfHAEMATOLOGICA-THE HEMATOLOGY JOURNAL
pubs.issue4
pubs.notesISI Document Delivery No.: AH6QQ Times Cited: 0 Cited Reference Count: 40 Rose-Zerilli, Matthew J. J. Forster, Jade Parker, Helen Parker, Anton Rodriguez, Ana E. Chaplin, Tracy Gardiner, Anne Steele, Andrew J. Collins, Andrew Young, Bryan D. Skowronska, Anna Catovsky, Daniel Stankovic, Tatjana Oscier, David G. Strefford, Jonathan C. Leukaemia and Lymphoma Research; Kay Kendall Leukaemia Fund; Wessex Medical Research; MRC [G8223452]; Cancer Research UK; Arbib Foundation; Schering Healthcare UK; Schering AG, Germany The authors would like to thank Leukaemia and Lymphoma Research, the Kay Kendall Leukaemia Fund and Wessex Medical Research for funding this study. The UK LRF CLL4 trial was funded by a core grant from Leukaemia and Lymphoma Research, with associated research work supported by the MRC (G8223452) and Cancer Research UK, and laboratory studies by the Arbib Foundation, Schering Healthcare UK, Schering AG, Germany and Leukaemia and Lymphoma Research. 0 FERRATA STORTI FOUNDATION PAVIA HAEMATOLOGICA
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR
pubs.volume99en_US
pubs.embargo.termsNot known
dc.contributor.icrauthorCatovsky, Danielen


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