Associations between imatinib resistance conferring mutations and philadelphia positive clonal cytogenetic evolution in CML

Genes Chromosomes and Cancer

Volumn 49, Issue 10, 2010, Pages 910-918

  Schnittger, Susanne ^a   Bacher, Ulrike ^b   Dicker, Frank ^a   Kern, Wolfgang ^a   Alpermann, Tamara ^a   Haferlach, Torsten ^a   Haferlach, Claudia ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; DASATINIB; IMATINIB; NILOTINIB; PROTEIN P53;

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHRONIC MYELOID LEUKEMIA; CLINICAL EVALUATION; CORRELATION ANALYSIS; CYTOGENETICS; DISEASE ASSOCIATION; FEMALE; GENE FUSION; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; PHILADELPHIA CHROMOSOME POSITIVE CELL; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE, NEOPLASM; FEMALE; FUSION PROTEINS, BCR-ABL; HUMANS; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MALE; MIDDLE AGED; MUTATION; PIPERAZINES; PROTEIN KINASE INHIBITORS; PYRIMIDINES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 77957859372     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20801     Document Type: Article

References (33)

1. Baccarani M, Saglio G, Goldman J, Hochhaus A, Simonsson B, Appelbaum F, Apperley J, Cervantes F, Cortes J, Deininger M, Gratwohl A, Guilhot F, Horowitz M, Hughes T, Kantarjian H, Larson R, Niederwieser D, Silver R, Hehlmann R. 2006. Evolving concepts in the management of chronic myeloid leukemia: Recommendations from an expert panel on behalf of the European Leukemia Net. Blood 108:1809-1820.
2. Baccarani M, Cortes J, Pane F, Niederwieser D, Saglio G, Apperley J, Cervantes F, Deininger M, Gratwohl A, Guilhot F, Hochhaus A, Horowitz M, Hughes T, Kantarjian H, Larson R, Radich J, Simonsson B, Silver RT, Goldman J, Hehlmann R. 2009. Chronic myeloid leukemia: An update of concepts and management recommendations of European Leukemia Net. J Clin Oncol 27:6041-6051.
3. Branford S, Rudzki Z, Walsh S, Parkinson I, Grigg A, Szer J, Taylor K, Herrmann R, Seymour JF, Arthur C, Joske D, Lynch K, Hughes T. 2003. Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. Blood 102:276-283.
4. Corbin AS, Buchdunger E, Pascal F, Druker BJ. 2002. Analysis of the structural basis of specificity of inhibition of the Ablkinase by STI571. J Biol Chem 277:32214-32219.
5. Cortes JE, Talpaz M, Giles F, O'Brien S, Rios MB, Shan J, Garcia-Manero G, Faderl S, Thomas DA, Wierda W, Ferrajoli A, Jeha S, Kantarjian HM. 2003. Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy. Blood 101:3794-3800.
6. Cortes J, Jabbour E, Kantarjian H, Yin CC, Shan J, O'Brien S, Garcia-Manero G, Giles F, Breeden M, Reeves N, Wierda WG, Jones D. 2007. Dynamics of BCR-ABL kinase domain mutations in chronic myeloid leukemia after sequential treatment with multiple tyrosine kinase inhibitors. Blood 110:4005-4011.
7. Dicker F, Herholz H, Schnittger S, Nakao A, Patten N, Wu L, Kern W, Haferlach T, Haferlach C. 2009. The detection of TP53 mutations in chronic lymphocytic leukemia independently predicts rapid disease progression and is highly correlated with a complex aberrant karyotype. Leukemia 23:117-124.
8. Druker BJ, Tamura S, Buchdunger E, Ohno S, Segal GM, Fanning S, Zimmermann J, Lydon NB. 1996. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med 2:561-566.
9. Emig M, Saussele S, Wittor H, Weisser A, Reiter A, Willer A, Berger U, Hehlmann R, Cross NC, Hochhaus A. 1999. Accurate and rapid analysis of residual disease in patients with CML using specific fluorescent hybridization probes for real time quantitative RT-PCR. Leukemia 13:1825-1832.
10. Gorre ME, Mohammed M, Ellwood K, Hsu N, Paquette R, Rao PN, Sawyers CL. 2001. Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 293:876-880.
11. Hochhaus A, Kreil S, Corbin AS, La RP, Muller MC, Lahaye T, Hanfstein B, Schoch C, Cross NC, Berger U, Gschaidmeier H, Druker BJ, Hehlmann R. 2002. Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Leukemia 16:2190-2196.
12. Hochhaus A, La Rosee P. 2004. Imatinib therapy in chronic myelogenous leukemia: Strategies to avoid and overcome resistance. Leukemia 18:1321-1331.
13. Holzerova M, Faber E, Veselovska J, Urbankova H, Balcarkova J, Rozmanova S, Voglova J, Muzik J, Chroust K, Indrak K, Jarosova M. 2009. Imatinib mesylate efficacy in 72 previously treated Philadelphia-positive chronic myeloid leukemia patients with and without additional chromosomal changes: Single-center results. Cancer Genet Cytogenet 191:1-9.
14. Hughes TP, Kaeda J, Branford S, Rudzki Z, Hochhaus A, Hensley ML, Gathmann I, Bolton AE, van Hoomissen I, Goldman JM, Radich JP. 2003. Frequency of major molecular responses to imatinib or interferon alfa plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl J Med 349:1423-1432.
15. Hughes TP, Branford S. 2009. Monitoring disease response to tyrosine kinase inhibitor therapy in CML. Hematology 2009:477-487.
16. Jabbour E, Kantarjian H, Jones D, Talpaz M, Bekele N, O'Brien S, Zhou X, Luthra R, Garcia-Manero G, Giles F, Rios MB, Verstovsek S, Cortes J. 2006. Frequency and clinical significance of BCR-ABL mutations in patients with chronic myeloid leukemia treated with imatinib mesylate. Leukemia 20:1767-1773.
17. Jabbour E, Soverini S. 2009. Understanding the role of mutations in therapeutic decision making for chronic myeloid leukemia. Semin Hematol 46:S22-S26.
18. Johansson B, Fioretos T, Mitelman F. 2002. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol 107:76-94.
19. Marktel S, Marin D, Foot N, Szydlo R, Bua M, Karadimitris A, De Melo V, Kotzampaltiris P, Dazzi F, Rahemtulla A, Olavarria E, Apperley JF, Goldman JM. 2003. Chronic myeloid leukemia in chronic phase responding to imatinib: The occurrence of additional cytogenetic abnormalities predicts disease progression. Haematologica 88:260-267.
20. Mitelman F. 1993. The cytogenetic scenario of chronic myeloid leukemia. Leuk Lymphoma 11 (Suppl 1):11-15.
21. Nicolini FE, Corm S, Le QH, Sorel N, Hayette S, Bories D, Leguay T, Roy L, Giraudier S, Tulliez M, Facon T, Mahon FX, Cayuela JM, Rousselot P, Michallet M, Preudhomme C, Guilhot F, Roche-Lestienne C. 2006. Mutation status and clinical outcome of 89 imatinib mesylate-resistant chronic myelogenous leukemia patients: A retrospective analysis from the French intergroup of CML (Fi(phi)-LMC GROUP). Leukemia 20:1061-1066.
22. O'Dwyer ME, Mauro MJ, Kurilik G, Mori M, Balleisen S, Olson S, Magenis E, Capdeville R, Druker BJ. 2002. The impact of clonal evolution on response to imatinib mesylate (STI571) in accelerated phase CML. Blood 100:1628-1633.
23. O'hare T, Eide CA, Deininger MW. 2007. Bcr-Abl kinase domain mutations, drug resistance and the road to a cure of chronic myeloid leukemia. Blood 110:2242-2249.
24. Quintas-Cardama A, Kantarjian HM, Cortes JE. 2009. Mechanisms of primary and secondary resistance to imatinib in chronic myeloid leukemia. Cancer Control 16:122-131.
25. Saglio G, Ulisciani S, Bosa M, Cilloni D, Rege-Cambrin G. 2008. New therapeutic approaches and prognostic factors in chronic myeloid leukemia. Leuk Lymphoma 49:625-628.
26. Schoch C, Schnittger S, Bursch S, Gerstner D, Hochhaus A, Berger U, Hehlmann R, Hiddemann W, Haferlach T. 2002. Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: A study on 350 cases. Leukemia 16:53-59.
27. Soverini S, Martinelli G, Amabile M, Poerio A, Bianchini M, Rosti G, Pane F, Saglio G, Baccarani M. 2004. Denaturing-HPLC-based assay for detection of ABL mutations in chronic myeloid leukemia patients resistant to Imatinib. Clin Chem 50:1205-1213.
28. Soverini S, Martinelli G, Rosti G, Bassi S, Amabile M, Poerio A, Giannini B, Trabacchi E, Castagnetti F, Testoni N, Luatti S, de Vivo A, Cilloni D, Izzo B, Fava M, Abruzzese E, Alberti D, Pane F, Saglio G, Baccarani M. 2005. ABL mutations in late chronic phase chronic myeloid leukemia patients with up-front cytogenetic resistance to imatinib are associated with a greater likelihood of progression to blast crisis and shorter survival: A study by the GIMEMA working party on chronic myeloid leukemia. J Clin Oncol 23:4100-4109.
29. Soverini S, Colarossi S, Gnani A, Rosti G, Castagnetti F, Poerio A, Iacobucci I, Amabile M, Abruzzese E, Orlandi E, Radaelli F, Ciccone F, Tiribelli M, di Lorenzo R., Caracciolo C, Izzo B, Pane F, Saglio G, Baccarani M, Martinelli G. 2006. Contribution of ABL kinase domain mutations to imatinib resistance in different subsets of Philadelphia-positive patients: By the GIMEMA working party on chronic myeloid leukemia. Clin Cancer Res 12:7374-7379.
30. Soverini S, Gnani A, Colarossi S, Castagnetti F, Abruzzese E, Paolini S, Merante S, Orlandi E, de Matteis S, Gozzini A, Iacobucci I, Palandri F, Gugliotta G, Papayannidis C, Poerio A, Amabile M, Cilloni D, Rosti G, Baccarani M, Martinelli G. 2009. Philadelphia-positive patients who already harbour imatinib-resistant Bcr-Abl kinase domain mutations have a higher likelihood of developing additional mutations associated with resistance to second- or third-line tyrosine kinase inhibitors. Blood 114:2268-2271.
31. Volpe G, Panuzzo C, Ulisciani S, Cilloni D. 2009. Imatinib resistance in CML. Cancer Lett 274:1-9.
32. Wendel HG, de Stanchina E., Cepero E, Ray S, Emig M, Fridman JS, Veach DR, Bornmann WG, Clarkson B, McCombie WR, Kogan SC, Hochhaus A, Lowe SW. 2006. Loss of p53 impedes the antileukemic response to BCR-ABL inhibition. Proc Natl Acad Sci USA 103:7444-7449.
33. Willis SG, Lange T, Demehri S, Otto S, Crossman L, Niederwieser D, Stoffregen EP, McWeeney S, Kovacs I, Park B, Druker BJ, Deininger MW. 2005. High-sensitivity detection of BCR-ABL kinase domain mutations in imatinib-naive patients: Correlation with clonal cytogenetic evolution but not response to therapy. Blood 106:2128-2137.