A pyrosequencing-based test for detection and relative quantification of the BCR-ABL1 T315I point mutation

Journal of Clinical Pathology

Volumn 64, Issue 7, 2011, Pages 618-625

  Schumacher, Jonathan A ^a   Szankasi, Philippe ^a   Bahler, David W ^a,b   Ho, Albert K ^a,b   Kelley, Todd W ^a,b  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; BREAKPOINT CLUSTER REGION PROTEIN; COMPLEMENTARY DNA; PROTEIN TYROSINE KINASE INHIBITOR;

ARTICLE; ATYPICAL CHRONIC MYELOID LEUKEMIA; FOLLOW UP; POINT MUTATION; PRIORITY JOURNAL; PYROSEQUENCING; QUANTITATIVE ANALYSIS; RETROSPECTIVE STUDY; TUMOR VOLUME;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FUSION PROTEINS, BCR-ABL; HUMANS; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MOLECULAR SEQUENCE DATA; POINT MUTATION; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 79959345311     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jcp.2011.089193     Document Type: Article

References (28)

1. O'Brien SG, Guilhot F, Larson RA, et al. Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med 2003;348:994-1004. (Pubitemid 36302244)
2. Gratwohl A, Brand R, Apperley J, et al. Allogeneic hematopoietic stem cell transplantation for chronic myeloid leukemia in Europe 2006: transplant activity, long-term data and current results. An analysis by the Chronic Leukemia Working Party of the European Group for Blood and Marrow Transplantation (EBMT). Haematologica 2006;91:513-21.
3. Jabbour E, Hochhaus A, Cortes J, et al. Choosing the best treatment strategy for chronic myeloid leukemia patients resistant to imatinib: weighing the efficacy and safety of individual drugs with BCR-ABL mutations and patient history. Leukemia 2010;24:6-12.
4. Baccarani M, Cortes J, Pane F, et al. Chronic myeloid leukemia: an update of concepts and management recommendations of European LeukemiaNet. J Clin Oncol 2009;27:6041-51.
5. Hughes TP, Branford S. Monitoring disease response to tyrosine kinase inhibitor therapy in CML. Hematology Am Soc Hematol Educ Program 2009:477-87.
6. Milojkovic D, Apperley J. Mechanisms of Resistance to Imatinib and Second-Generation Tyrosine Inhibitors in Chronic Myeloid Leukemia. Clin Cancer Res 2009;15:7519-27.
7. Press RD, Willis SG, Laudadio J, et al. Determining the rise in BCR-ABL RNA that optimally predicts a kinase domain mutation in patients with chronic myeloid leukemia on imatinib. Blood 2009;114:2598-605.
8. Shiotsu Y, Kiyoi H, Ishikawa Y, et al. KW-2449, a novel multikinase inhibitor, suppresses the growth of leukemia cells with FLT3 mutations or T315I-mutated BCR/ABL translocation. Blood 2009;114:1607-17.
9. Moore AS, Blagg J, Linardopoulos S, et al. Aurora kinase inhibitors: novel small molecules with promising activity in acute myeloid and Philadelphia-positive leukemias. Leukemia 2010;24:671-8.
10. Giles FJ, Cortes J, Jones D, et al. 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;109:500-2. (Pubitemid 46105945)
11. Modugno M, Casale E, Soncini C, et al. Crystal structure of the T315I Abl mutant in complex with the aurora kinases inhibitor PHA-739358. Cancer Res 2007;67:7987-90. (Pubitemid 47395130)
12. Cortes J, Jabbour E, Kantarjian H, et al. Dynamics of BCR-ABL kinase domain mutations in chronic myeloid leukemia after sequential treatment with multiple tyrosine kinase inhibitors. Blood 2007;110:4005-11. (Pubitemid 350248456)
13. Hughes T, Deininger M, Hochhaus A, et al. 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. (Pubitemid 43990609)
14. Yin CC, Cortes J, Galbincea J, et al. Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays. Cancer Sci 2010;101:2005-10.
15. Jones D, Thomas D, Yin CC, et al. Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors. Cancer 2008;113:985-94.
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;106:2128-37. (Pubitemid 41291730)
17. Yamamoto M, Kakihana K, Ohashi K, et al. Serial monitoring of T315I BCR-ABL mutation by invader assay combined with RT-PCR. Int J Hematol 2009;89:482-8.
18. Kang HY, Hwang JY, Kim SH, et al. 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;91:659-62.
19. Chomel JC, Sorel N, Bonnet ML, et al. Quantitative monitoring of the T315I mutation in patients with chronic myeloid leukemia (CML). Leuk Res 2009;33:551-5.
20. Irving JA, O'Brien S, Lennard AL, et al. Use of denaturing HPLC for detection of mutations in the BCR-ABL kinase domain in patients resistant to Imatinib. Clin Chem 2004;50:1233-7. (Pubitemid 38824234)
21. Khorashad JS, Milojkovic D, Mehta P, et al. In vivo kinetics of kinase domain mutations in CML patients treated with dasatinib after failing imatinib. Blood 2008;111:2378-81.
22. Ahmadian A, Ehn M, Hober S. Pyrosequencing: history, biochemistry and future. Clin Chim Acta 2006;363:83-94. (Pubitemid 41748205)
23. Burgess MR, Skaggs BJ, Shah NP, et al. Comparative analysis of two clinically active BCR-ABL kinase inhibitors reveals the role of conformation-specific binding in resistance. Proc Natl Acad Sci U S A 2005;102:3395-400. (Pubitemid 40328056)
24. Warmuth M, Simon N, Mitina O, et al. Dual-specific Src and Abl kinase inhibitors, PP1 and CGP76030, inhibit growth and survival of cells expressing imatinib mesylate-resistant Bcr-Abl kinases. Blood 2003;101:664-72. (Pubitemid 36077591)
25. Ogino S, Kawasaki T, Brahmandam M, et al. Sensitive sequencing method for KRAS mutation detection by Pyrosequencing. J Mol Diagn 2005;7:413-21. (Pubitemid 41149657)
26. Tan YH, Liu Y, Eu KW, et al. Detection of BRAF V600E mutation by pyrosequencing. Pathology 2008;40:295-8. (Pubitemid 351563933)
27. Sivertsson A, Platz A, Hansson J, et al. Pyrosequencing as an alternative to single-strand conformation polymorphism analysis for detection of N-ras mutations in human melanoma metastases. Clin Chem 2002;48:2164-70. (Pubitemid 35397558)
28. Jabbour E, Kantarjian H, Jones D, et al. Characteristics and outcomes of patients with chronic myeloid leukemia and T315I mutation following failure of imatinib mesylate therapy. Blood 2008;112:53-5.