Papers by Anna Skowronska
Haematologica, 2014
A proportion of cases were not screened for our panel of molecular and cytogenetic biomarkers; no... more A proportion of cases were not screened for our panel of molecular and cytogenetic biomarkers; not screened= 21 a, 29 b, 29 c, 61 d, 41 e, 20 f, 26 g. 1 A significant positive association was identified between the presence of del11q and an unmutated IGHV sequences in the CLL4 cases (P=0.03, 2x2 χ 2 test). 2 The columns for del11q and non-del11q are based on the SNP6.0 profiling data. 3 A significant positive association was identified between the frequency of truncating ATM mutations (T-Mutated) and presence of del11q. (P=0.02, 2x2 χ 2 test). 4 The frequency of non-truncating ATM mutations (NT-Mutated) was similar in non-del11q and del11q cases. (P=0.76, 2x2 χ 2 test). © F e r r a t a S t o r t i F o u n d a t i o n 11q23 deletions, ATM and BIRC3 mutations in CLL haematologica | 2014; 99(4) 741 haematologica | 2014; 99(4)
Journal of Clinical Oncology, 2007
The ataxia telangiectasia mutated (ATM) gene is located on chromosome 11q and loss of this region... more The ataxia telangiectasia mutated (ATM) gene is located on chromosome 11q and loss of this region is common in B-cell chronic lymphocytic leukemia (CLL). Our aim was to determine if CLL tumors with a chromosome 11q deletion might be divided into two subgroups based on the status of the remaining ATM allele.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, Jan 20, 2012
The prognostic significance of ATM mutations in chronic lymphocytic leukemia (CLL) is unclear. We... more The prognostic significance of ATM mutations in chronic lymphocytic leukemia (CLL) is unclear. We assessed their impact in the context of a prospective randomized trial. We analyzed the ATM gene in 224 patients treated on the Leukemia Research Fund Chronic Lymphocytic Leukemia 4 (LRF-CLL4) trial with chlorambucil or fludarabine with and without cyclophosphamide. ATM status was analyzed by denaturing high-performance liquid chromatography and was related to treatment response, survival, and the impact of TP53 alterations for the same patient cohort. We identified 36 ATM mutations in 33 tumors, 16 with and 17 without 11q deletion. Mutations were associated with advanced disease stage and involvement of multiple lymphoid sites. Patients with both ATM mutation and 11q deletion showed significantly reduced progression-free survival (median, 7.4 months) compared with those with ATM wild type (28.6 months), 11q deletion alone (17.1 months), or ATM mutation alone (30.8 months), but survival...
Haematologica, Jan 3, 2015
Inactivation of the Ataxia Telangiectasia Mutated gene in chronic lymphocytic leukemia results in... more Inactivation of the Ataxia Telangiectasia Mutated gene in chronic lymphocytic leukemia results in resistance to p53-dependent apoptosis and inferior responses to treatment with DNA damaging agents. Hence, p53-independent strategies are required to target Ataxia Telangiectasia Mutated-deficient chronic lymphocytic leukemia. As Ataxia Telangiectasia Mutated has been implicated in redox homeostasis, we investigated the effect of the Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia genotype on cellular responses to oxidative stress with a view to therapeutic targeting. We found that in comparison to Ataxia Telangiectasia Mutated-wild type chronic lymphocytic leukemia, pro-oxidant treatment of Ataxia Telangiectasia Mutated-null cells led to reduced binding of NF-E2 p45-related factor-2 to antioxidant response elements and thus decreased expression of target genes. Furthermore, Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia cells contained lower levels of a...
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Papers by Anna Skowronska