About: ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin     Goto   Sponge   NotDistinct   Permalink

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  • ATM abnormalities are frequent in chronic lymphocytic leukemia and represent an important prognostic factor. Sole 11q deletion does not result in ATM inactivation by contrast to biallelic defects involving mutations. Therefore, the analysis of ATM mutations and their functional impact is crucial. In this study, we analyzed ATM mutations in predominantly high-risk patients using: i) resequencing microarray and direct sequencing; ii) Western blot for total ATM level; iii) functional test based on p21 gene induction after parallel treatment of leukemic cells with fludarabine and doxorubicin. ATM dysfunction leads to impaired p21 induction after doxorubicin exposure. We detected ATM mutation in 16% (22 of 140) of patients, and all mutated samples manifested demonstrable ATM defect (impaired p21 upregulation after doxorubicin and/or null protein level). Loss of ATM function in mutated samples was also evidenced through defective p53 pathway activation after ionizing radiation exposure.
  • ATM abnormalities are frequent in chronic lymphocytic leukemia and represent an important prognostic factor. Sole 11q deletion does not result in ATM inactivation by contrast to biallelic defects involving mutations. Therefore, the analysis of ATM mutations and their functional impact is crucial. In this study, we analyzed ATM mutations in predominantly high-risk patients using: i) resequencing microarray and direct sequencing; ii) Western blot for total ATM level; iii) functional test based on p21 gene induction after parallel treatment of leukemic cells with fludarabine and doxorubicin. ATM dysfunction leads to impaired p21 induction after doxorubicin exposure. We detected ATM mutation in 16% (22 of 140) of patients, and all mutated samples manifested demonstrable ATM defect (impaired p21 upregulation after doxorubicin and/or null protein level). Loss of ATM function in mutated samples was also evidenced through defective p53 pathway activation after ionizing radiation exposure. (en)
Title
  • ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin
  • ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin (en)
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  • ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin
  • ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin (en)
skos:notation
  • RIV/00216224:14740/13:00065621!RIV14-MZ0-14740___
http://linked.open...avai/riv/aktivita
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  • I, P(ED1.1.00/02.0068), P(EE2.3.20.0045), P(NT13493), P(NT13519)
http://linked.open...iv/cisloPeriodika
  • 7
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  • 62434
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  • RIV/00216224:14740/13:00065621
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  • ATM mutations; CLL; ATM dysfunction; doxorubicin (en)
http://linked.open.../riv/klicoveSlovo
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  • IT - Italská republika
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  • [7B9F96C630F1]
http://linked.open...i/riv/nazevZdroje
  • Haematologica
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http://linked.open...v/svazekPeriodika
  • 98
http://linked.open...iv/tvurceVysledku
  • Brychtová, Yvona
  • Doubek, Michael
  • Mayer, Jiří
  • Mráz, Marek
  • Pospíšilová, Šárka
  • Zemanová, Jana
  • Pavlová, Šárka
  • Malčíková, Jitka
  • Trbušek, Martin
  • Šebejová, Ludmila
  • Šmardová, Jana
  • Potěšil, David
  • Navrkalová, Veronika
  • Kmínková, Jana
  • Kubešová, Blanka
  • Némethová, Veronika
http://linked.open...ain/vavai/riv/wos
  • 000328540200027
issn
  • 0390-6078
number of pages
http://bibframe.org/vocab/doi
  • 10.3324/haematol.2012.081620
http://localhost/t...ganizacniJednotka
  • 14740
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