|
|
|
|
LEADER |
02455 am a22002893u 4500 |
001 |
364484 |
042 |
|
|
|a dc
|
100 |
1 |
0 |
|a Rose-Zerilli, Matthew J.
|e author
|
700 |
1 |
0 |
|a Forster, Jade
|e author
|
700 |
1 |
0 |
|a Parker, Helen
|e author
|
700 |
1 |
0 |
|a Parker, Anton
|e author
|
700 |
1 |
0 |
|a Rodríguez, Ana E.
|e author
|
700 |
1 |
0 |
|a Chaplin, Tracy
|e author
|
700 |
1 |
0 |
|a Gardiner, Anne
|e author
|
700 |
1 |
0 |
|a Steele, Andrew J.
|e author
|
700 |
1 |
0 |
|a Collins, A.
|e author
|
700 |
1 |
0 |
|a Young, Bryan D.
|e author
|
700 |
1 |
0 |
|a Skowronska, Anna
|e author
|
700 |
1 |
0 |
|a Catovsky, Daniel
|e author
|
700 |
1 |
0 |
|a Stankovic, Tanja
|e author
|
700 |
1 |
0 |
|a Oscier, D.G.
|e author
|
700 |
1 |
0 |
|a Strefford, Jonathan C.
|e author
|
245 |
0 |
0 |
|a 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
|
260 |
|
|
|c 2014-02-28.
|
856 |
|
|
|z Get fulltext
|u https://eprints.soton.ac.uk/364484/1/__soton.ac.uk_ude_PersonalFiles_Users_jcs_mydocuments_PDF%2520Archive_My%2520Papers_2014_RoseZerilli_Strefford_11q_Haematologica.pdf
|
520 |
|
|
|a 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 wild-type 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
|
655 |
7 |
|
|a Article
|