期刊
HAEMATOLOGICA
卷 99, 期 4, 页码 736-742出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2013.098574
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资金
- Leukaemia and Lymphoma Research
- Kay Kendall Leukaemia Fund
- Wessex Medical Research
- MRC [G8223452]
- Cancer Research UK
- Arbib Foundation
- Schering Healthcare UK
- Schering AG, Germany
- MRC [G8223452] Funding Source: UKRI
- Medical Research Council [G8223452] Funding Source: researchfish
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.
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