Minimal residual disease – detection possibilities in haematological and non-haematological malignancies
Authors:
Markéta Kalinová
Authors place of work:
Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha
Published in the journal:
Čes.-slov. Patol., 49, 2013, No. 4, p. 131-138
Category:
Přehledové články – Molekulární diagnostika
Summary
Minimal residual disease (MRD) monitoring is of a great importance for the patients and often determines their future therapy. At present, MRD detection in patients suffering from hematologic malignancies is included in most of treatment protocols. However, it appears that the MRD detection, sometimes described as circulating tumor cells or minimal disseminated disease, is important in patients with solid tumors as well. Molecular MRD monitoring principles include detection of specific DNA, RNA or protein markers of tumour cells, which are not present in bone marrow and/or peripheral blood cells. High specificity and sensitivity of this specific molecular tumour marker is necessary. Quantitative MRD monitoring by means of molecular methods can determine the decrease or increase of MRD level.
In this review, we describe different molecular methods used, an overview on their advantages, limitations, and the sample quality and processing requirements. A summary of molecular markers employed in hematological and non-hematological diseases is also presented.
Keywords:
minimal residual disease – minimal disseminated disease – circulating tumor cells – PCR – quantitative PCR – Ig/TCR rearrangement
Zdroje
1. Gutterman JU, Mavligit G, Burgess MA, et al. Immunodiagnosis of acute leukemia: detection of residual disease. J Natl Cancer Inst 1974; 53(2): 389-392.
2. Campana D, Pui CH. Detection of minimal residual disease in acute leukemia: methodologic advances and clinical significance. Blood 1995; 85(6): 1416-1434.
3. Krsková L, Mrhalová M, Hilská I, et al. Detection and clinical significance of bone marrow involvement in patients with rhabdomyosarcoma. Virchows Arch 2010; 456(5): 463-472.
4. Wagner LM, Smolarek TA, Sumegi J, Marmer D. Assessment of minimal residual disease in ewing sarcoma. Sarcoma 2012; 2012: 780129.
5. Stark B, Avigad S, Luria D, et al. Bone marrow minimal disseminated disease (MDD) and minimal residual disease (MRD) in childhood T-cell lymphoblastic lymphoma stage III, detected by flow cytometry (FC) and real-time quantitative polymerase chain reaction (RQ-PCR). Pediatr Blood Cancer 2009; 52(1): 20-25.
6. Ghossein RA, Bhattacharya S. Molecular detection and characterisation of circulating tumour cells and micrometastases in solid tumours. Eur J Cancer 2000; 36(13 Spec No): 1681-1694.
7. Sun YF, Yang XR, Zhou J, et al. Circulating tumor cells: advances in detection methods, biological issues, and clinical relevance. J Cancer Res Clin Oncol 2011; 137(8): 1151-1173.
8. Cabinaková M, Tesařová P. Disseminated and circulating tumour cells and their role in breast cancer. Folia Biol (Praha) 2012; 58(3): 87-97.
9. Heiss MM, Simon EH, Beyer BC, et al. Minimal residual disease in gastric cancer: evidence of an independent prognostic relevance of urokinase receptor expression by disseminated tumor cells in the bone marrow. J Clin Oncol 2002; 20(8): 2005-2016.
10. Biondi A, Yokota S, Hansen-Hagge TE, et al. Minimal residual disease in childhood acute lymphoblastic leukemia: analysis of patients in continuous complete remission or with consecutive relapse. Leukemia 1992; 6(4): 282-288.
11. Brisco MJ, Condon J, Hughes E, et al. Outcome prediction in childhood acute lymphoblastic leukaemia by molecular quantification of residual disease at the end of induction. Lancet 1994; 343 (8891): 196-200.
12. Goulden NJ, Knechtli CJ, Garland RJ, et al. Minimal residual disease analysis for the prediction of relapse in children with standard-risk acute lymphoblastic leukaemia. Br J Haematol 1998; 100(1): 235-244.
13. Krejci O, van der Velden VH, Bader P, et al. Level of minimal residual disease prior to haematopoietic stem cell transplantation predicts prognosis in paediatric patients with acute lymphoblastic leukaemia: a report of the Pre-BMT MRD Study Group. Bone Marrow Transplant 2003; 32(8): 849-851.
14. Neale GA, Menarguez J, Kitchingman GR, et al. Detection of minimal residual disease in T-cell acute lymphoblastic leukemia using polymerase chain reaction predicts impending relapse. Blood 1991; 78(3): 739-747.
15. Nizet Y, Van Daele S, Lewalle P, et al. Long-term follow-up of residual disease in acute lymphoblastic leukemia patients in complete remission using clonogeneic IgH probes and the polymerase chain reaction. Blood 1993; 82(5): 1618-1625.
16. Wasserman R, Galili N, Ito Y, et al. Residual disease at the end of induction therapy as a predictor of relapse during therapy in childhood B-lineage acute lymphoblastic leukemia. J Clin Oncol 1992; 10(12): 1879-1888.
17. Yokota S, Hansen-Hagge TE, Ludwig WD, et al. Use of polymerase chain reactions to monitor minimal residual disease in acute lymphoblastic leukemia patients. Blood 1991; 77(2): 331-339.
18. Froňková E, Mejstříková E, Avigad S, et al. Minimal residual disease (MRD) analysis in the non-MRD-based ALL IC-BFM 2002 protocol for childhood ALL: is it possible to avoid MRD testing? Leukemia 2008; 22(5): 989-997.
19. Pott C, Schrader C, Gesk S, et al. Quantitative assessment of molecular remission after high-dose therapy with autologous stem cell transplantation predicts long-term remission in mantle cell lymphoma. Blood 2006; 107(6): 2271-2278.
20. Trka J, Kalinová M, Hrušák O, et al. Real-time quantitative PCR detection of WT1 gene expression in children with AML: prognostic significance, correlation with disease status and residual disease detection by flow cytometry. Leukemia 2002; 16(7): 1381-1389.
21. Zaliova M, Froňková E, Krejčíková K, et al. Quantification of fusion transcript reveals a subgroup with distinct biological properties and predicts relapse in BCR/ABL-positive ALL: implications for residual disease monitoring. Leukemia 2009; 23(5): 944-951.
22. Szczepanski T, Orfao A, van der Velden VH, San Miguel JF, van Dongen JJ. Minimal residual disease in leukaemia patients. Lancet Oncol 2001; 2(7): 409-417.
23. Gertler R, Rosenberg R, Fuehrer K, et al. Detection of circulating tumor cells in blood using an optimized density gradient centrifugation. Recent Results Cancer Res 2003; 162: 149-155.
24. Sleijfer S, Gratama JW, Sieuwerts AM, et al. Circulating tumour cell detection on its way to routine diagnostic implementation? Eur J Cancer 2007; 43(18): 2645-2650.
25. Berois N, Varangot M, Aizen B, et al. Molecular detection of cancer cells in bone marrow and peripheral blood of patients with operable breast cancer. Comparison of CK19, MUC1 and CEA using RT-PCR. Eur J Cancer 2000; 36(6): 717-723.
26. Gkalpakiotis S, Arenberger P, Kremen J, Arenbergerova M. Quantitative detection of melanoma-associated antigens by multimarker real-time RT-PCR for molecular staging: results of a 5 years study. Exp Dermatol 2010; 19(11): 994-999.
27. Hoshino M, Ogose A, Kawashima H, et al. Molecular analyses of cell origin and detection of circulating tumor cells in the peripheral blood in alveolar soft part sarcoma. Cancer Genet Cytogenet 2009; 190(2): 75-80.
28. Beiske K, Ambros PF, Burchill SA, Cheung IY, Swerts K. Detecting minimal residual disease in neuroblastoma patients-the present state of the art. Cancer Lett 2005; 228(1-2): 229-240.
29. van der Velden VH, Jacobs DC, Wijkhuijs AJ, et al. Minimal residual disease levels in bone marrow and peripheral blood are comparable in children with T cell acute lymphoblastic leukemia (ALL), but not in precursor-B-ALL. Leukemia 2002; 16(8): 1432-1436.
30. Kalinová M, Krsková L, Břízová H, et al. Quantitative PCR detection of NPM/ALK fusion gene and CD30 gene expression in patients with anaplastic large cell lymphoma—residual disease monitoring and a correlation with the disease status. Leuk Res 2008; 32(1): 25-32.
31. Grimwade D. The significance of minimal residual disease in patients with t(15;17). Best Pract Res Clin Haematol 2002; 15(1): 137-158.
32. van der Velden VH, Hochhaus A, Cazzaniga G, et al. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects. Leukemia 2003; 17(6): 1013-1034.
33. Hrušák O, Porwit-MacDonald A. Antigen expression patterns reflecting genotype of acute leukemias. Leukemia 2002; 16(7): 1233-1258.
34. Lucio P, Parreira A, van den Beemd MW, et al. Flow cytometric analysis of normal B cell differentiation: a frame of reference for the detection of minimal residual disease in precursor-B-ALL. Leukemia 1999; 13(3): 419-427.
35. Campana D, Coustan-Smith E. Detection of minimal residual disease in acute leukemia by flow cytometry. Cytometry 1999; 38(4): 139-152.
36. van Wering ER, Beishuizen A, Roeffen ET, et al. Immunophenotypic changes between diagnosis and relapse in childhood acute lymphoblastic leukemia. Leukemia 1995; 9(9): 1523-1533.
37. Mejstříková E, Froňková E, Kalina T, et al. Detection of residual B precursor lymphoblastic leukemia by uniform gating flow cytometry. Pediatr Blood Cancer 2010; 54(1): 62-70.
38. van Dongen JJ, Langerak AW, Bruggemann M, et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia 2003; 17(12): 2257-2317.
39. van Dongen JJ, Macintyre EA, Gabert JA, et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia 1999; 13(12): 1901-1928.
40. Langerak AW, Wolvers-Tettero IL, van Gastel-Mol EJ, Oud ME, van Dongen JJ. Basic helix-loop-helix proteins E2A and HEB induce immature T-cell receptor rearrangements in nonlymphoid cells. Blood 2001; 98(8): 2456-2465.
41. van der Velden VH, Bruggemann M, Hoogeveen PG, et al. TCRB gene rearrangements in childhood and adult precursor-B-ALL: frequency, applicability as MRD-PCR target, and stability between diagnosis and relapse. Leukemia 2004; 18(12): 1971-1980.
42. van der Velden VH, Wijkhuijs JM, Jacobs DC, van Wering ER, van Dongen JJ. T cell receptor gamma gene rearrangements as targets for detection of minimal residual disease in acute lymphoblastic leukemia by real-time quantitative PCR analysis. Leukemia 2002; 16(7): 1372-1380.
43. van der Velden VH, Willemse MJ, van der Schoot CE, et al. Immunoglobulin kappa deleting element rearrangements in precursor-B acute lymphoblastic leukemia are stable targets for detection of minimal residual disease by real-time quantitative PCR. Leukemia 2002; 16(5): 928-936.
44. Verhagen OJ, Willemse MJ, Breunis WB, et al. Application of germline IGH probes in real-time quantitative PCR for the detection of minimal residual disease in acute lymphoblastic leukemia. Leukemia 2000; 14(8): 1426-1435.
45. Szczepanski T, Beishuizen A, Pongers-Willemse MJ, et al. Cross-lineage T cell receptor gene rearrangements occur in more than ninety percent of childhood precursor-B acute lymphoblastic leukemias: alternative PCR targets for detection of minimal residual disease. Leukemia 1999; 13(2): 196-205.
46. Pongers-Willemse MJ, Verhagen OJ, Tibbe GJ, et al. Real-time quantitative PCR for the detection of minimal residual disease in acute lymphoblastic leukemia using junctional region specific TaqMan probes. Leukemia 1998; 12(12): 2006-2014.
47. Tsujimoto Y, Yunis J, Onorato-Showe L, et al. Molecular cloning of the chromosomal breakpoint of B-cell lymphomas and leukemias with the t(11;14) chromosome translocation. Science 1984; 224(4656): 1403-1406.
48. Pongers-Willemse MJ, Seriu T, Stolz F, et al. Primers and protocols for standardized detection of minimal residual disease in acute lymphoblastic leukemia using immunoglobulin and T cell receptor gene rearrangements and TAL1 deletions as PCR targets: report of the BIOMED-1 CONCERTED ACTION: investigation of minimal residual disease in acute leukemia. Leukemia 1999; 13(1): 110-118.
49. Beillard E, Pallisgaard N, van der Velden VH, 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; 17(12): 2474-2486.
50. Froňková E, Trka J. Detekce minimální reziduální nemoci u akutních lymfoblastických leukémií pomocí kvantifikace přestaveb genů pro imunoglobuliny a T-buněčné receptory: jak se vyhnout špatné interpretaci výsledků. Transfuze a hematologie dnes 2005; 11(3): 110-115.
51. van der Velden VH, Cazzaniga G, Schrauder A, et al. Analysis of minimal residual disease by Ig/TCR gene rearrangements: guidelines for interpretation of real-time quantitative PCR data. Leukemia 2007; 21(4): 604-611.
Štítky
Patológia Súdne lekárstvo ToxikológiaČlánok vyšiel v časopise
Česko-slovenská patologie
2013 Číslo 4
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