Analysis of Bcr-Abl kinase domain mutations in Korean chronic myeloid leukaemia patients: Poor clinical outcome of P-loop and T315I mutation is disease phase dependent

Hematological Oncology

Volumn 27, Issue 4, 2009, Pages 190-197

  Kim, Soo Hyun ^a   Kim, Dongho ^a   Kim, Dong Wook ^a,b   Goh, Hyun Gyung ^a   Jang, Se Eun ^a   Lee, Jeong ^a   Kim, Wan Seok ^a   Kweon, Il Young ^b   Park, Sa Hee ^b  

^a The Catholic University of Korea   (South Korea)

^b The Catholic University of Korea   (South Korea)

Author keywords

ASO PCR; Bcr Abl kinase domain mutation; CML; Imatinib resistance; Korean

Indexed keywords

BCR ABL PROTEIN; IMATINIB; ANTINEOPLASTIC AGENT; PIPERAZINE DERIVATIVE; PROTEIN KINASE INHIBITOR; PYRIMIDINE DERIVATIVE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CANCER CLASSIFICATION; CHILD; CHRONIC MYELOID LEUKEMIA; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; KOREA; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; OVERALL SURVIVAL; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; SCHOOL CHILD; SURVIVAL; TREATMENT RESPONSE; DISEASE COURSE; DRUG RESISTANCE; ENZYMOLOGY; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PROGNOSIS; PROTEIN TERTIARY STRUCTURE; SURVIVAL RATE; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AGED; ANTINEOPLASTIC AGENTS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE, NEOPLASM; FEMALE; FUSION PROTEINS, BCR-ABL; HUMANS; KOREA; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MALE; MIDDLE AGED; PIPERAZINES; PROGNOSIS; PROTEIN KINASE INHIBITORS; PROTEIN STRUCTURE, TERTIARY; PYRIMIDINES; SURVIVAL RATE; TREATMENT OUTCOME; YOUNG ADULT;

EID: 72949110861     PISSN: 02780232     EISSN: 10991069     Source Type: Journal    
DOI: 10.1002/hon.894     Document Type: Article

References (28)

1. Rowley JD. A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973; 243: 290-293.
2. Bartram CR, de Klein A, Hagemeijer A, et al. Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukemia. Nature 1983; 306: 277-280.
3. Groffen J, Stephenson JR, Heisterkamp N, de Klein A, Bartram CR, Grosveld G. Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 1984; 36: 93-99.
4. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood 1996; 88: 2375-2384.
5. Deininger M, Goldman J, Melo J. The molecular biology of chronic myeloid Leukemia. Blood 2000; 96: 3343-3356.
6. Kantarjian H, Sawyers C, Hochhaus A, et al. Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia. New Engl J Med 2002; 346: 645-652.
7. O'Brien SG, Guilhot F, Larson RA, et al. IRIS Investigators. Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. New Engl J Med 2003; 348: 994-1004.
8. Shah NP, Nicoll JM, Nagar B, et al. C. L. Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia. Cancer Cell 2002; 2: 117-125.
9. Roumiantsev S, Shah NP, Gorre ME, et al. Clinical resistance to the kinase inhibitor STI-571 in chronic myeloid leukemia by mutation of Tyr-253 in the Abl kinase domain P-loop. Proc Natl Acad Sci USA 2002; 99: 10700-10705.
10. Gorre ME, Mohammed M, Ellwood K, et al. Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 2001; 293: 876-880.
11. Schindler T, Bornmann W, Pellicena P, Miller W, Clarkson B, Kuriyan J. Structural mechanism for STI-571 inhibition of Abelson tyrosine kinase. Science 2000; 289: 1938-1942.
12. Branford S, Rudzki Z, Walsh S, et al. High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Blood 2002; 99: 3472-3475.
13. Hochhaus A, Kreil S, Corbin AS, et al. Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Leukemia 2002; 16: 2190-2196.
14. Azam M, Latek RR, Daley GQ. Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. Cell 2003; 112: 831-843.
15. Soverini S, Martinelli G, Rosti G, et al. 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 2005; 23: 4100-4109.
16. Willis SG, Lange T, Demehri S, et al. High sensitivity detection of BCR-ABL kinase domain mutations in imatinib-naive patients: correlation with clonal cytogenetic evolution but not response to therapy. Blood 2005; 106: 2128-2137.
17. Kang HY, Hwang JY, Kim SH, Goh HG, Kim M, Kim DW. Comparison of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistant to imatinib. Haematologica 2006; 9: 659-662.
18. Wang L, Knight K, Lucas C, Clark RE. The role of serial BCR-ABL transcript monitoring in predicting the emergence of BCR-ABL kinase mutations in imatinib-treated patients with chronic myeloid leukemia. Haematologica 2006; 91: 235-239.
19. Saglio G, Cilloni D. Abl: the prototype of oncogenic fusion proteins. Cell Mol Life Sci 2004; 61: 2897-2911.
20. Soverini S, Colarossi S, Gnani A, et al. 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 2006; 12: 7374-7379.
21. Jabbour E, Kantarjian H, Jones D, et al. Frequency and clinical significance of BCR-ABL mutations in patients with chronic myeloid leukemia treated with imatinib mesylate. Leukemia 2006; 20: 1767-1773.
22. Corbin AS, La Rosée P, Stoffregen EP, Druker BJ, Deininger MW. Several Bcr-Abl kinase domain mutants associated with imatinib mesylate resistance remain sensitive to imatinib. Blood 2003; 101: 4611-4614.
23. Nicolini FE, Corm S, Lê QH, et al. Mutation status and clinical outcome of 89 imatinib mesylate-resistant chronic myelogenous leukemia patients: a retrospective analysis from the French intergroup of CML (Fi (φ)-LMC GROUP). Leukemia 2006; 20: 1061-1066.
24. Nagar B, Bornmann WG, Pellicena P, et al. Crystal structures of the kinase domain of c-Abl in complex with the small molecule inhibitors PD173955 and imatinib (STI-571). Cancer Res 2002; 62: 4236-4243.
25. Reid A, Tarpey P, Nacheva E. High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes. Genes Chromosomes Cancer 2003; 37: 282-290.
26. Gribble SM, Reid AG, Roberts I, Grace C, Green AR, Nacheva EP. Genomic imbalances in CML blast crisis: 8q24.12-q24.13 segment identified as a common region of over-representation. Genes Chromosomes Cancer 2003; 37: 346-358.
27. Branford S, Rudzki Z, Walsh S, et al. 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 2003; 102: 276-283.
28. Shah NP, Skaggs BJ, Branford S, et al. C. L. Sequential ABL kinase inhibitor therapy selects for compound drug-resistant BCR-ABL mutations with altered oncogenic potency. J Clin Invest 2007; 117: 2562-2569.