Best Practice & Research Clinical Haematology
Volume 22, Issue 3 , Pages 355-365 , September 2009

Standardisation of molecular monitoring for chronic myeloid leukaemia

  • Nicholas C.P. Cross, MA, PhD, FRCPath (Professor)

      Affiliations

    • National Genetics Reference Laboratory (Wessex), Salisbury, UK
    • Human Genetics Division, School of Medicine, University of Southampton, UK
    • Corresponding Author InformationNational Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK. Tel.: +44 1722 429080; Fax: +44 1722 338095.

References 

  1. Kawasaki ES, Clark SS, Coyne MY, et al. Diagnosis of chronic myeloid and acute lymphocytic leukemias by detection of leukemia-specific mRNA sequences amplified in vitro. Proc Natl Acad Sci U S A. 1988 Aug;85(15):5698–5702
  2. Dobrovic A, Trainor KJ, Morley AA. Detection of the molecular abnormality in chronic myeloid leukemia by use of the polymerase chain reaction. Blood. 1988 Dec;72(6):2063–2065
  3. Lee MS, Chang KS, Freireich EJ, et al. Detection of minimal residual bcr/abl transcripts by a modified polymerase chain reaction. Blood. 1988 Sep;72(3):893–897
  4. Morgan GJ, Hughes T, Janssen JW, et al. Polymerase chain reaction for detection of residual leukaemia. Lancet. 1989 Apr 29;1(8644):928–929
  5. Sawyers CL, Timson L, Kawasaki ES, et al. Molecular relapse in chronic myelogenous leukemia patients after bone marrow transplantation detected by polymerase chain reaction. Proc Natl Acad Sci U S A. 1990 Jan;87(2):563–567
  6. Hughes T, Martiat P, Morgan G, et al. Significance of residual leukaemia transcripts after bone marrow transplant for CML. Lancet. 1990 Jan 6;335(8680):50
  7. Gabert J, Thuret I, Lafage M, et al. Detection of residual bcr/abl translocation by polymerase chain reaction in chronic myeloid leukaemia patients after bone-marrow transplantation. Lancet. 1989 Nov 11;2(8672):1125–1128
  8. Delage R, Soiffer RJ, Dear K, et al. Clinical significance of bcr-abl gene rearrangement detected by polymerase chain reaction after allogeneic bone marrow transplantation in chronic myelogenous leukemia. Blood. 1991 Nov 15;78(10):2759–2767
  9. Hughes T, Janssen JW, Morgan G, et al. False-positive results with PCR to detect leukaemia-specific transcript. Lancet. 1990 Apr 28;335(8696):1037–1038
  10. Cross NCP, Hughes TP, Feng L, et al. Minimal residual disease after allogeneic bone marrow transplantation for chronic myeloid leukaemia in first chronic phase: correlations with acute graft-versus-host disease and relapse. Br J Haematol. 1993 May;84(1):67–74
  11. Lion T, Henn T, Gaiger A, et al. Early detection of relapse after bone marrow transplantation in patients with chronic myelogenous leukaemia. Lancet. 1993 Jan 30;341(8840):275–276
  12. Adelaide J, Chaffanet M, Imbert A, et al. Chromosome region 8p11-p21: refined mapping and molecular alterations in breast cancer. Genes Chromosomes Cancer. 1998 Jul;22(3):186–199
  13. Cross NCP, Feng L, Chase A, et al. Competitive polymerase chain reaction to estimate the number of BCR-ABL transcripts in chronic myeloid leukemia patients after bone marrow transplantation. Blood. 1993 Sep 15;82(6):1929–1936
  14. Malinge MC, Mahon FX, Delfau MH, et al. Quantitative determination of the hybrid Bcr-Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy. Br J Haematol. 1992 Dec;82(4):701–707
  15. Hochhaus A, Lin F, Reiter A, et al. Quantification of residual disease in chronic myelogenous leukemia patients on interferon-alpha therapy by competitive polymerase chain reaction. Blood. 1996 Feb 15;87(4):1549–1555
  16. Burmeister T, Maurer J, Aivado M, et al. Quality assurance in RT-PCR-based BCR/ABL diagnostics–results of an interlaboratory test and a standardization approach. Leukemia. 2000 Oct;14(10):1850–1856
  17. Zhang T, Grenier S, Nwachukwu B, et al. Inter-laboratory comparison of chronic myeloid leukemia minimal residual disease monitoring: summary and recommendations. J Mol Diagn. 2007 Sep;9(4):421–430
  18. Yamada MF, Fujiwara T, Ishikawa I, et al. Interlaboratory comparison of quantitative RT-PCR based detection for minimal residual disease in leukemias: a standardization approach in Japan. Tohoku J Exp Med. 2008 Feb;214(2):97–104
  19. Muller MC, Saglio G, Lin F, et al. An international study to standardize the detection and quantitation of BCR-ABL transcripts from stabilized peripheral blood preparations by quantitative RT-PCR. Haematologica. 2007 Jul;92(7):970–973
  20. Lin F, Goldman JM, Cross NCP. A comparison of the sensitivity of blood and bone marrow for the detection of minimal residual disease in chronic myeloid leukaemia. Br J Haematol. 1994 Mar;86(3):683–685
  21. Stock W, Yu D, Karrison T, et al. Quantitative real-time RT-PCR monitoring of BCR-ABL in chronic myelogenous leukemia shows lack of agreement in blood and bone marrow samples. Int J Oncol. 2006 May;28(5):1099–1103
  22. Beillard E, Pallisgaard N, van dV , et al. Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using ‘real-time’ quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) - a Europe against cancer program. Leukemia. 2003 Dec;17(12):2474–2486
  23. 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 Jul 1;102(1):276–283
  24. Rulcova J, Zmekova V, Zemanova Z, et al. The effect of total-ABL, GUS and B2M control genes on BCR-ABL monitoring by real-time RT-PCR. Leuk Res. 2007 Apr;31(4):483–491
  25. Emig M, Saussele S, Wittor H, et al. Accurate and rapid analysis of residual disease in patients with CML using specific fluorescent hybridization probes for real time quantitative RT-PCR. Leukemia. 1999 Nov;13(11):1825–1832
  26. Vandesompele J, De PK, Pattyn F, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002 Jun 18;3(7):RESEARCH0034
  27. Gabert J, Beillard E, van dV , et al. Standardization and quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe Against Cancer program. Leukemia. 2003 Dec;17(12):2318–2357
  28. Muller MC, Erben P, Saglio G, et al. Harmonization of BCR-ABL mRNA quantification using a uniform multifunctional control plasmid in 37 international laboratories. Leukemia. 2008 Jan;22(1):96–102
  29. Hughes TP, Kaeda J, Branford S, et al. Frequency of major molecular responses to imatinib or interferon alfa plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl J Med. 2003 Oct 9;349(15):1423–1432
  30. 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 Jul 1;108(1):28–37
  31. Branford S, Cross NCP, Hochhaus A, et al. Rationale for the recommendations for harmonizing current methodology for detecting BCR-ABL transcripts in patients with chronic myeloid leukaemia. Leukemia. 2006 Nov;20(11):1925–1930
  32. Branford S, Fletcher L, Cross NCP, et al. Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood. 2008 Oct 15;112(8):3330–3338
  33. Hirsh J, Poller L. The international normalized ratio. A guide to understanding and correcting its problems. Arch Intern Med. 1994 Feb 14;154(3):282–288
  34. Branford S, Hughes T. Diagnosis and monitoring of chronic myeloid leukemia by qualitative and quantitative RT-PCR. Methods Mol Med. 2006;125:69–92
  35. WHO Expert Committee on biological standardization . World Health Organ Tech Rep Ser. 2007;941:1–340
  36. Saldanha J, Silvy M, Beaufils N, et al. 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 Jul;21(7):1481–1487
  37. Pasloske BL, WalkerPeach CR, Obermoeller RD, et al. Armored RNA technology for production of ribonuclease-resistant viral RNA controls and standards. J Clin Microbiol. 1998 Dec;36(12):3590–3594
  38. Collins ML, Zayati C, Detmer JJ, et al. Preparation and characterization of RNA standards for use in quantitative branched DNA hybridization assays. Anal Biochem. 1995 Mar 20;226(1):120–129

PII: S1521-6926(09)00020-6

doi: 10.1016/j.beha.2009.04.001

Best Practice & Research Clinical Haematology
Volume 22, Issue 3 , Pages 355-365 , September 2009