Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia

Journal of Molecular Diagnostics

Volumn 11, Issue 1, 2009, Pages 4-11

  Jones, Dan ^a,b,c   Kamel Reid, Suzanne ^a,d   Bahler, David ^a,e   Dong, Henry ^a,f   Elenitoba Johnson, Kojo ^a,g   Press, Richard ^a,h   Quigley, Neil ^a,i   Rothberg, Paul ^a,j   Sabath, Dan ^a,k   Viswanatha, David ^a,l   Week, Karen ^a,m   Zehnder, James ^a,n  

^a ABL Mutation Working Group   (United States)

^b Association for Molecular Pathology   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d UNIVERSITY HEALTH NETWORK   (Canada)

^e ARUP LABORATORIES   (United States)

^f Genzyme Genetics   (United States)

^g UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ Molecular Pathology Laboratory Network Inc   (United States)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k UNIVERSITY OF WASHINGTON   (United States)

^l MAYO CLINIC   (United States)

^m UNIVERSITY OF NORTH CAROLINA   (United States)

ⁿ STANFORD UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; BOSUTINIB; DASATINIB; IMATINIB; NILOTINIB; PROTEIN TYROSINE KINASE INHIBITOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; CANADA; CANCER RESISTANCE; CHRONIC MYELOID LEUKEMIA; CLINICAL LABORATORY; CONSENSUS DEVELOPMENT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; DNA SYNTHESIS; DRUG RESPONSE; DRUG SENSITIVITY; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC DATABASE; GENETIC EPIDEMIOLOGY; GENETIC RESISTANCE; GENETIC SCREENING; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INFORMATION PROCESSING; INTERMETHOD COMPARISON; LABORATORY DIAGNOSIS; LABORATORY TEST; MEDICAL SOCIETY; MUTATIONAL ANALYSIS; PHARMACOGENETICS; PHILADELPHIA 1 CHROMOSOME; PHILADELPHIA CHROMOSOME POSITIVE CELL; POINT MUTATION; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; QUALITY CONTROL; QUANTITATIVE GENETICS; REVIEW; STANDARDIZATION; UNITED STATES;

CLINICAL TRIALS AS TOPIC; DATA COLLECTION; DRUG RESISTANCE, NEOPLASM; FUSION PROTEINS, BCR-ABL; HUMANS; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MUTATION; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 58849115010     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.080095     Document Type: Article

References (41)

1. 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: Frequency and clinical significance of BCR-ABL mutations in patients with chronic myeloid leukemia treated with imatinib mesylate. Leukemia 2006, 20:1767-1773
2. 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: 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
3. Soverini S, Colarossi S, Gnani A, Rosti G, Castagnetti F, Poerio A, lacobucci 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: 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
4. Branford S, Rudzki Z, Walsh S, Grigg A, Arthur C, Taylor K, Herrmann R, Lynch KP, Hughes TP: 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
5. Jabbour E, Kantarjian H, Jones D, Breeden M, Garcia-Manero G, O'Brien S, Ravandi F, Borthakur G, Cortes J: Characteristics and outcomes of patients with chronic myeloid leukemia and T315I mutation following failure of imatinib mesylate therapy. Blood 2008. 112:53-55
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: Dynamics of BCR-ABL kinase domain mutations in chronic myeloid leukemia after sequential treatment with multiple tyrosine kinase inhibitors. Blood 2007, 110:4005-4011
7. Shah NP, Skaggs BJ, Branford S, Hughes TP, Nicoll JM, Paquette RL, Sawyers CL: Sequential ABL kinase inhibitor therapy selects for compound drug-resistant BCR-ABL mutations with altered oncogenic potency. J Clin Invest 2007, 117:2562-2569
8. Pfeifer H, Wassmann B, Pavlova A, Wunderle L. Oldenburg J. Binckebanck A, Lange T, Hochhaus A, Wystub S, Bruck P, Hoelzer D. Ottmann OG: Kinase domain mutations of BCR-ABL frequently precede imatinib-based therapy and give rise to relapse in patients with de novo Philadelphia-positive acute lymphoblastic leukemia (Ph + ALL). Blood 2007, 110.727-734
9. Jones D, Thomas D, Yin CC, O'Brien S, Cortes JE, Jabbour E, Breeden M, Giles FJ, Zhao W, Kantarjian HM: Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors. Cancer 2008, 113:985-994
10. Jones D, Luthra R, Cortes J, Thomas D, O'Brien S, Bueso-Ramos C, Hai S, Ravandi F, de Lima M, Kantarjian H, Jorgensen J: BCR-ABL fusion transcript types and levels and their interaction with secondary genetic changes in determining the phenotype of Philadelphia chromosome-positive leukemias. Blood 2008, doi:10.1182/blood-2008-04-148791
11. Sherbenou DW, Wong MJ, Humayun A, McGreevey LS, Harrell P, Yang R, Mauro M, Heinrich MC, Press RD, Druker BJ, Deininger MW: Mutations of the BCR-ABL-kinase domain occur in a minority of patients with stable complete cytogenetic response to imatinib. Leukemia 2007, 21:489-493
12. Chu S, Xu H, Shah NP, Snyder DS, Forman SJ, Sawyers CL, Bhatia R: Detection of BCR-ABL kinase mutations in CD34+ cells from chronic myelogenous leukemia patients in complete cytogenetic remission on imatinib mesylate treatment. Blood 2005, 105:2093-2098
13. Hughes T: ABL kinase inhibitor therapy for CML: baseline assessments and response monitoring. Hematology Am Soc Hematol Educ Prog 2006, 211-218
14. 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: Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood 2006, 108:1809-1820
15. Branford S, Rudzki Z, Parkinson I, Grigg A, Taylor K, Seymour JF, Durrant S, Browett P, Schwarer AP, Arthur C, Catalano J, Leahy MF, Filshie R, Bradstock K, Herrmann R, Joske D, Lynch K, Hughes T: Real-time quantitative PCR analysis can be used as a primary screen to identify patients with CML treated with imatinib who have BCR-ABL kinase domain mutations. Blood 2004, 104:2926-2932
16. Hughes T, Deininger M, Hochhaus A, Branford S, Radich J, Kaeda J, Baccarani M, Cortes J, Cross NC, Druker BJ, Gabert J, Grimwade D, Hehlmann R, Kamel-Reid S, Lipton JH, Longtine J, Martinelli G, Saglio G, Soverini S, Stock W, Goldman JM: Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood 2006, 108:28-37
17. Vivante A, Amariglio N, Koren-Michowitz M, Ashur-Fabian O, Nagler A, Rechavi G, Cohen Y: High-throughput, sensitive and quantitative assay for the detection of BCR-ABL kinase domain mutations. Leukemia 2007, 21:1318-1321
18. Giles FJ, Cortes J, Jones D, Bergstrom D, Kantarjian H, Freedman SJ: MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation. Blood 2007, 109:500-502
19. Oehler VG, Qin J, Ramakrishnan R, Facer G, Ananthnarayan S, Cummings C, Deininger M, Shah N, McCormick F, Willis S, Daridon A, Unger M, Radich JP: Absolute quantitative detection of ABL tyrosine kinase domain point mutations in chronic myeloid leukemia using a novel nanofluidic platform and mutation-specific PCR. Leukemia 2008, (Letter to the Editor) Epub ahead of print, doi:10.1038/leu.2008.183
20. Apperley JF: Part I: mechanisms of resistance to imatinib in chronic myeloid leukaemia. Lancet Oncol 2007, 8:1018-1029
21. O'Hare T, Walters DK, Stoffregen EP, Jia T, Manley PW, Mestan J, Cowan-Jacob SW, Lee FY, Heinrich MC, Deininger MW, Druker BJ: In vitro activity of Bcr-Abl inhibitors AMN107 and BMS-354825 against clinically relevant imatinib-resistant Abl kinase domain mutants. Cancer Res 2005, 65:4500-4505
22. Druker BJ, Talpaz M, Resta DJ, Peng B, Buchdunger E, Ford JM, Lydon NB, Kantarjian H, Capdeville R, Ohno-Jones S, Sawyers CL: Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med 2001, 344:1031-1037
23. Kantarjian H, Giles F, Wunderle L, Bhalla K, O'Brien S, Wassmann B, Tanaka C, Manley P, Rae P, Mietlowski W, Bochinski K, Hochhaus A, Griffin JD, Hoelzer D, Albitar M, Dugan M, Cortes J, Alland L, Ottmann OG: Nilotinib in imatinib-resistant CML and Philadelphia chromosome-positive ALL. N Engl J Med 2006, 354:2542-2551
24. Bradeen HA, Eide CA, O'Hare T, Johnson KJ, Willis SG, Lee FY, Druker BJ, Deininger MW: Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitro-sourea (ENU)-based mutagenesis screen: high efficacy of drug combinations. Blood 2006, 108:2332-2338
25. Burgess MR, Skaggs BJ, Shah NP, Lee FY, Sawyers CL: Comparative analysis of two clinically active BCR-ABL kinase inhibitors reveals the role of conformation-specific binding in resistance. Proc Natl Acad Sci USA: 102:3395-3400, 2005
26. O'Hare T, Eide CA, Deininger MW: Bcr-Abl kinase domain mutations, drug resistance, and the road to a cure for chronic myeloid leukemia. Blood 2007, 110:2242-2249
27. Ray A, Cowan-Jacob SW, Manley PW, Mestan J, Griffin JD: Identification of BCR-ABL point mutations conferring resistance to the Abl kinase inhibitor AMN107 (nilotinib) by a random mutagenesis study. Blood 2007, 109:5011-5015
28. von Bubnoff N, Manley PW, Mestan J, Sanger J, Peschel C, Duyster J: Bcr-Abl resistance screening predicts a limited spectrum of point mutations to be associated with clinical resistance to the Abl kinase inhibitor nilotinib (AMN107). Blood 2006, 108:1328-1333
29. Shah NP, Nicoll JM, Nagar B, Gorre ME, Paquette RL, Kuriyan J, Sawyers CL: 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
30. Soverini S, Martinelli G, Colarossi S, Gnani A, Rondoni M, Castagnetti F, Paolini S, Rosti G, Baccarani M: Second-line treatment with dasatinib in patients resistant to imatinib can select novel inhibitor-specific BCR-ABL mutants in Ph+ ALL. Lancet Oncol 2007, 8:273-274
31. Khorashad JS, Anand M, Marin D, Saunders S, Al-Jabary T, Iqbal A, Margerison S, Melo JV, Goldman JM, Apperley JF, Kaeda J: The presence of a BCR-ABL mutant allele in CML does not always explain clinical resistance to imatinib. Leukemia 2006, 20:658-663
32. Roche-Lestienne C, Deluche L, Corm S, Tigaud I, Joha S, Philippe N, Geffroy S, Lai JL, Nicolini FE, Preudhomme C: RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leuke-mias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance. Blood 2008, 111:3735-3741
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: 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
34. Miething C, Feihl S, Mugler C, Grundler R, von Bubnoff N, Lordick F, Peschel C, Duyster J: The Bcr-Abl mutations T315I and Y253H do not confer a growth advantage in the absence of imatinib. Leukemia 2006, 20:650-657
35. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE: ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med 2008, 10:294-300
36. Baccarani M, Pane F, Saglio G: Monitoring treatment of chronic myeloid leukemia. Haematologica 2008, 93:161-169
37. Saldanha J, Silvy M, Beaufils N, Arlinghaus R, Barbany G, Branford S, Cayuela JM, Cazzaniga G, Gonzalez M, Grimwade D, Kairisto V, Miyamura K, Lawler M, Lion T, Macintyre E, Mahon FX, Muller MC, Ostergaard M, Pfeifer H, Saglio G, Sawyers C, Spinelli O, van der Velden VH, Wang JQ, Zoi K, Patel V, Phillips P, Matejtschuk P, Gabert J: Characterization of a reference material for BCR-ABL (M-BCR) mRNA quantitation by real-time amplification assays: towards new standards for gene expression measurements. Leukemia 2007, 21:1481-1487
38. Quigley NB, Henley DC, Hubbard RA, Laudadio J, Press RD: ABL kinase domain pseudoexon insertion is not uncommon in BCR-ABL transcripts. J Mol Diagn 2008, 10:475-476; author reply 476
39. Laudadio J, Deininger MW, Mauro MJ, Druker BJ, Press RD: An intron-derived insertion/truncation mutation in the BCR-ABL kinase domain in chronic myeloid leukemia patients undergoing kinase inhibitor therapy. J Mol Diagn 2008, 10:177-180
40. Sherbenou DW, Hantschel O, Turaga L, Kaupe I, Willis S, Bumm T, Press RD, Superti-Furga G, Druker BJ, Deininger MW: Characterization of BCR-ABL deletion mutants from patients with chronic myeloid leukemia. Leukemia 2008, 22:1184-1190
41. Young MA, Shah NP, Chao LH, Seeliger M, Milanov ZV, Biggs WH, 3rd, Treiber DK, Patel HK, Zarrinkar PP, Lockhart DJ, Sawyers CL, Kuriyan J: Structure of the kinase domain of an imatinib-resistant Abl mutant in complex with the Aurora kinase inhibitor VX-680. Cancer Res 2006, 66:1007-1014