Myeloproliferative disorders and myelodysplastic syndromes

Molecular Pathology in Clinical Practice

Volumn , Issue , 2007, Pages 383-396

  Vergilio, Jo Anne ^a   Bagg, Adam ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 41449107597     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-33227-7_35     Document Type: Chapter

References (78)

1. Jaffe ES, Harris NL, Stein H, et al. World Health Organization Classification of Tumours, Pathology and Genetics, Tumours of Haematopoetic and Lymphoid Tissues. Lyon, France: IARC Press; 2001
2. Nowell PC. Progress with chronic myelogenous leukemia: A personal perspective over four decades. Annu Rev Med. 2002;53:1-13
3. Barnes DJ, Melo JV. Cytogenetic and molecular genetic aspects of chronic myeloid leukemia. Acta Haematol. 2002;108:180-202
4. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood. 1996;93:3167-3215
5. Faderl S, Jeha S, Kantarjian HM. The biology and therapy of adult acute lymphoblastic leukemia. Cancer. 2003;98:1337-1354
6. Pane F, Frigeri F, Sindona M, et al. Neutrophilic-chronic myeloid leukemia: A distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction). Blood. 1996;88:2410-2414
7. Elliott MA, Hanson CA, Dewald GW, Smoley SA, Lasho TL, Tefferi A. WHO-defined chronic neutrophilic leukemia: A long-Term analysis of 12 cases and a critical review of the literature. Leukemia. 2005;19:313-317
8. Shepter PJ, Ben-Yehuda D. Molecular evolution of chronic myeloid leukaemia. Semin Cancer Biol. 2001;11:313-322
9. Calabretta B, Perrotti D. The biology of CML blast crisis. Blood. 2004;103:4010-4022
10. Johansson B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002;107:76-94
11. Huntly BJ, Bench A, Green AR. Double jeopardy from a single translocation: Deletions of the derivative chromosome 9 in chronic myeloid leukemia. Blood. 2003;102:1160-1168
12. Kaeda J, Chase A, Goldman JM. Cytogenetic and molecular monitoring of residual disease in chronic myeloid leukemia.Acta Haematol. 2002;107:64-75
13. O'Dwyer ME, Mauro MJ, Druker BJ. Recent advancements in the treatment of chronic myelogenous leukemia. Annu Rev Med. 2002;53:369-381
14. Kantarjian HM, Talpaz M, Cortes J, et al. Quantitative polymerase chain reaction monitoring of BCR-ABL during therapy with imatinib mesylate (STI571; Gleevec) in chronic-phase chronic myelogenous leukemia. Clin Cancer Res. 2003;9:160-166
15. O'Brien SG, Guilhot F, Larson RA, et al. Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronicphase chronic myeloid leukemia. N Eng J Med. 2003;348:994-1004
16. Branford S, Rudzki Z, Harper A, et al. Imatinib produces significantly superior molecular responses compared to interferon alfa plus cytarabine in patients with newly diagnosed chronic myeloid leukemia in chronic phase. Leukemia. 2003;17:2401-2409
17. 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 Eng J Med. 2003;349:1423-1432
18. Kantarjian H, Talpaz M, O'Brien S, et al.High-dose imatinib mesylate therapy in newly diagnosed Philadelphia chromosome-positive chronic phase chronic myeloid leukemia.Blood. 2004;103:2873-2878
19. Kantarjian HM, O'Brien S, Cortes JE, et al.Complete cytogenetic and molecular responses to interferon-〈-based therapy for chronic myelogenous leukemia are associated with excellent long-Term prognosis. Cancer. 2003;97:1033-1041
20. Deininger M, Buchdunger E, Druker BJ. The development of imatinib as a therapeutic agent for chronic myeloid leukemia. Blood. 2005;105:2640-2653
21. Gilleece MH, Dazzi F. Donor lymphocyte infusions for patients who relapse after allogeneic stem cell transplantation for chronic myeloid leukaemia. Leuk Lymphoma. 2003;44:23-28
22. Tsao AS, Kantarjian H, Talpaz DM. STI-571 in chronic myelogenous leukemia. Br J Haematol. 2002;119:15-24
23. Shannon KM. Resistance in the land of molecular cancer therapeutics. Cancer Cell. 2002;2:99-102
24. Branford S, Rudzki Z, Parkinson I, et al. 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
25. Wang YL, Bagg A, Pear W, et al. Chronic myelogenous leukemia: Laboratory diagnosis and monitoring. Genes Chromosomes Cancer. 2001;32:97-111
26. Bagg A. Chronic myeloid leukemia: A minimalistic view of post-Therapeutic monitoring. J Mol Diag. 2002;4:1-10
27. Branford S, Hughes TP, Rudzki Z. Monitoring chronic myeloid leukaemia therapy by real-Time quantitative PCR in blood is a reliable alternative to bone marrow cytogenetics. Br J Haematol. 1999;107:587-599
28. Hochhaus A. Detection and quantification of leukemia-specific rearrangements. In: Boultwood J, Fidler C, eds. Methods in Molecular Medicine. Totowa, NJ: Humana Press; 2002:67-96
29. Branford S, Hughes TP, Rudzki Z. Dual transcription of b2a2 and b3a2 BCR-ABL transcripts in chronic myeloid leukaemia is confined to patients with a linked polymorphism within the BCR gene. Br J Haematol. 2002;117:875-877
30. Lichty BD, Keating A, Callum J, et al. Expression of p210 and p190 BCR-ABL due to alternative splicing in chronic myelogenous leukaemia. Br J Haematol. 1998;103:711-715
31. Kreuzer KA, Lass U, Bohn A, et al. LightCycler technology for the quantitation of bcr/abl fusion transcripts. Cancer Res. 1999;59: 3171-3174
32. 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;13:1825-1832
33. Serrano J, Roman J, Sanchez J, et al. Molecular analysis of lineagespecific chimerism and minimal residual disease by RT-PCR of p210 (BCR-ABL) and p190 (BCR-ABL) after allogeneic bone marrow transplantation for chronic myeloid leukemia: Increasing mixed myeloid chimerism and p190 (BCR-ABL) detection precede cytogenetic relapse. Blood. 2000;95:2659-2665
34. Formankova R, Honzatkova L, Moravcova J, et al. Prediction and reversion of post-Transplant relapse in patients with chronic myeloid leukemia using mixed chimerism and residual disease detection and adoptive immunotherapy. Leuk Res. 2000;24:339-347
35. Biernaux C, Loos M, Sels A, et al. Detection of major bcr-Abl gene expression at a very low level in cells of some healthy individuals. Blood. 1995;86:3118-3122
36. Bose S, Deininger M, Gora-Tybor J, et al. The presence of typical and atypical BCR-ABL fusion genes in leukocytes of normal individuals: Biologic significance and implications for the assessment of minimal residual disease. Blood. 1998;92:3362-3367
37. Radich JP, Gehley G, Gooley T, et al.Polymerase chain reaction detection of the BCR-ABL fusion transcript after allogeneic marrow transplantation for chronic myeloid leukemia: Results and implications in 346 patients. Blood. 1995;85:2632-2638
38. Radich JP, Gooley T, Bryant E, et al. The significance of bcr-Abl molecular detection in chronic myeloid leukemia patients late, 18 months or more after transplantation. Blood. 2001;98:1701-1707
39. Chomel JC, Brizard F, Veinstein A, et al. Persistence of BCR-ABL genomic rearrangement in chronic myeloid leukemia patients in complete and sustained cytogenetic remission after interferon-Alpha therapy or allogeneic bone marrow transplantation. Blood. 2000;95:404-408
40. Lion T. Clinical implications of qualitative and quantitative polymerase chain reaction analysis in the monitoring of patients with chronic myelogenous leukemia: The European Investigators on Chronic Myelogenous Leukemia Group. Bone Marrow Transplant. 1994;14:505-509
41. Wang L, Pearson K, Ferguson JE, et al. The early molecular response to imatinib predicts cytogenetic and clinical outcome in chronic myeloid leukaemia. Br J Haematol. 2003;120:990-999
42. Marin D, Kaeda J, Szydlo R, et al. Monitoring patients in complete cytogenetic remission after treatment of CML in chronic phase with imatinib: Patterns of residual leukaemia and prognostic factors for cytogenetic relapse. Leukemia. 2005;19:507-512
43. Tipping AJ, Deininger MW, Goldman JM, et al. Comparative gene expression profile of chronic myeloid leukemia cells innately resistant to imatinib mesylate. Exp Hematol. 2003;31:1073-1080
44. Vergilio J, Bagg A. Chronic myeloid leukemia: Molecular diagnosis and monitoring. In: Fuchs J, Podda M, eds. Encyclopedia of Medical Genomics and Proteomics. New York: Marcel Dekker; 2005
45. Goldman J. Monitoring minimal residual disease in BCR-ABLpositive chronic myeloid leukemia in the imatinib era. Curr Opin Hematol. 2005;12:33-39
46. O'Dwyer ME, Gatter KM, Loriaux M, et al. Demonstration of Philadelphia chromosome negative abnormal clones in patients with chronic myelogenous leukemia during major cytogenetic responses induced by imatinib mesylate. Leukemia. 2003;17:481-487
47. Saussele S, Weisser A, Muller MC, et al. Frequent polymorphism in BCR exon b2 identified in BCR-ABL positive and negative individuals using fluorescent hybridization probes. Leukemia. 2000;14:2006-2010
48. Cools J, Stover EH, Wlodarska I, Marynen P, Gilliland DG. The FIP1L1-PDGFRalpha kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia. Curr Opin Hematol. 2004;11:51-57
49. Goldman JM.A unifying mutation in chronic myeloproliferative disorders. N Engl J Med. 2005;352:1744-1746
50. Tefferi A, Gilliland DG. The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: Status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc. 2005;80:947-958
51. Spivak JL. Polycythemia vera: Myths, mechanisms, and management. Blood. 2002;100:4272-4290
52. Harrison CN. Current trends in essential thrombocythemia. Br J Haematol. 2002;117:796-808
53. Steensma DP, Tefferi A. Cytogenetic and molecular genetic aspects of essential thrombocythemia. Acta Haematol. 2002;108:55-65
54. Vergilio J, Bagg A. Myelodysplastic syndromes: Contemporary biologic concepts and emerging diagnostic approaches. Am J Clin Pathol. 2003;199(suppl):S58-S77
55. Greiner TC. Diagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders. Am J Clin Pathol. 2006;125: 651-653
56. Cherian S, Bagg A. The genetics of the myelodysplastic syndromes: Classical cytogenetics and recent molecular insights. Hematology. 2006;11:1-13
57. Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: A distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol. 2002;107:101-107
58. Steer EJ, Cross NC.Myeloproliferative disorders with translocations of chromosome 5q31-35: Role of the platelet-derived growth factor receptor Beta. Acta Haematol. 2002;107:113-122
59. Mundschau G, Gurbuxani S, Gamis AS, et al.Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood. 2003;101:4298-4300
60. Gupta R, Bain BJ, Knight CL. Cytogenetic and molecular genetic abnormalities in systemic mastocytosis. Acta Haematol. 2002;107: 123-128
61. Padua RA, West RR. Oncogene mutation and prognosis in the myelodysplastic syndromes. Br J Haematol. 2000;111:873-874
62. Emanuel PD. Juvenile myelomonocytic leukemia. Curr Hematol Rep. 2004;3:203-209
63. Side L, Taylor B, Cayouette M, et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Eng J Med. 1997;336: 1713-1720
64. Kita-Sasai Y, Horiike S, Misawa S, et al. International prognostic scoring system and TP53 mutations are independent prognostic indicators for patients with myelodysplastic syndromes.Br J Haematol. 2001;115:309-312
65. Lai JL, Preudhomme C, Roumier C, et al.Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of p53 mutations. Leukemia. 1995;9:370-381
66. Soenen V, Preudhomme C, Roumier C, et al. 17p Deletion in acute myeloid leukemia and myelodysplastic syndromes. Analysis of breakpoints and deleted segments by fluorescence in situ. Blood. 1998;91:1008-1015
67. Quesnel B, Guillerm G, Vereecque R, et al. Methylation of the p15(INK4b) gene in myelodysplastic syndromes is frequent and acquired during disease progression. Blood. 1998;91:2985-2990
68. Tien H-F, Tang J-L, Tsay W, et al.Methylation of the p15INK4B gene in myelodysplastic syndrome: It can be detected early at diagnosis or during disease progression and is highly associated with leukaemic transformation. Br J Haematol. 2001;112:148-154
69. Padua RA, Guinn BA, Al-Sabah AI, et al. RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: A 10-year follow-up. Leukemia. 1998;12:887-892
70. Slovak ML, Bedell V, Popplewell L, et al. 21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: A report from an international workshop. Genes Chromosomes Cancer. 2002; 33:379-394
71. Reddy PL, Sheet VT, Dutt D, et al. Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. Br J Haematol. 2002;116:564-575
72. Gattermann N. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes. Leuk Res. 2000;24:141-151
73. Gale RE. Evaluation of clonality in myeloid stem-cell disorders. Semin Hematol. 1999;36:361-372
74. Allen RC, Zoghbi HY, Moseley AB, et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.Am J Hum Genet. 1992;51:1229-1239
75. Uchida T, Ohashi H, Aoki E, et al. Clonality analysis by methylationspecific PCR for the human androgen-receptor gene (HUMARAMSP). Leukemia. 2000;14:207-212
76. Briere J, el-Kassar N. Clonality markers in polycythaemia and primary thrombocythaemia. Baillieres Clin Haematol. 1998;11: 787-801
77. Klippel S, Strunck E, Busse CE, et al. Biochemical characterization of PRV-1, a novel hematopoietic cell surface receptor, which is overexpressed in polycythemia rubra vera. Blood. 2002;100:2441-2448
78. 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