Myelodysplastic syndromes: Recent progress in diagnosis and understanding of their pathophysiology

Journal of Nippon Medical School

Volumn 73, Issue 6, 2006, Pages 300-307

  Ogata, Kiyoyuki ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Diagnosis; Myelodysplastic syndromes; Pathophysiology

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; AZACITIDINE; CYCLOSPORIN; ERYTHROPOIETIN; GRANULOCYTE COLONY STIMULATING FACTOR; THYMOCYTE ANTIBODY;

ACUTE GRANULOCYTIC LEUKEMIA; APOPTOSIS; BONE MARROW CELL; CYTOGENETICS; CYTOLOGY; EPIGENETICS; FLOW CYTOMETRY; HUMAN; IMMUNOLOGY; MYELODYSPLASTIC SYNDROME; NONHUMAN; PATHOPHYSIOLOGY; REFRACTORY ANEMIA; REFRACTORY ANEMIA WITH EXCESS BLASTS; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; REVIEW;

APOPTOSIS; CYTOGENETICS; EPIGENESIS, GENETIC; FLOW CYTOMETRY; HUMANS; IMMUNOCOMPETENCE; LEUKEMIA, MYELOCYTIC, ACUTE; MYELODYSPLASTIC SYNDROMES; T-LYMPHOCYTES;

EID: 33846080168     PISSN: 13454676     EISSN: 13473409     Source Type: Journal    
DOI: 10.1272/jnms.73.300     Document Type: Review

References (69)

1. Steensma DP, Bennett JM: The myelodysplastic syndromes: diagnosis and treatment. Mayo Clin Proc 2006; 81: 104-130.
2. Smith MT, Linet MS, Morgan GJ: Causative agents in the etiology of myelodysplastic syndromes and the acute myeloid leukemias. In The Myelodysplastic Syndromes: Pathobiology and Clinical Management (Bennett JM, ed), 2002; pp 29-63, Marcel Dekker, New York.
3. Miller JS, Arthur DC, Litz CE, Neglia JP, Miller WJ, Weisdorf DJ: Myelodysplastic syndrome after autologous bone marrow transplantation: an additional late complication of curative cancer therapy. Blood 1994; 83: 3780-3786.
4. Hamblin TJ: Epidemiology of the myelodysplastic syndromes. In The Myelodysplastic Syndromes: Pathobiology and Clinical Management (Bennett JM, ed), 2002; pp 15-27, Marcel Dekker, New York.
5. Aul C, Giagounidis A, Germing U: Epidemiological features of myelodysplastic syndromes: results from regional cancer surveys and hospital-based statistics. Int J Hematol 2001; 73: 405-410.
6. Hofmann WK, Lubbert M, Hoelzer D, Koeffler PH: Myelodysplastic syndromes. Hematol J 2004; 5: 1-8.
7. Phelan JTII, Kouides PA, Bennett JM: Myelodysplastic syndromes: historical aspects. In The Myelodysplastic Syndromes: Pathobiology and Clinical Management (Bennett JM, ed), 2002; pp 1-14, Marcel Dekker, New York.
8. Bennett JM, Catovsky D, Daniel MT, et al: Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51: 189-199.
9. Vardiman JW, Harris NL, Brunning RD: The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292-2302.
10. Mathew P, Tefferi A, Dewald GW, et al: The 5q-syndrome: a single-institution study of 43 consecutive patients. Blood 1993; 81: 1040-1045.
11. Inokuchi K: Chronic myelogenous leukemia: from molecular biology to clinical aspects and novel targeted therapies. J Nippon Med Sch 2006; 73: 178-192.
12. Sole F, Espinet B, Sanz GF, et al: Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Br J Haematol 2000; 108: 346-356.
13. Hamblin T: Minimal diagnostic criteria for the myelodysplastic syndrome in clinical practice. Leuk Res 1992; 16: 3.
14. Bowen D, Culligan D, Jowitt S, et al: Guidelines for the diagnosis and therapy of adult myelodysplastic syndromes. Br J Haematol 2003; 120: 187-200.
15. Valent P, Horny HP, Bennett JM, et al: Definitions and standards in the diagnosis and treatment of myelodysplastic syndromes: consensus statements and report from a working conference. Leuk Res (in press).
16. Stetler-Stevenson M, Arthur DC, Jabbour N, et al.: Diagnostic utility of flow cytometric immunophenotyping in myelodysplastic syndrome. Blood 2001; 98: 979-987.
17. Kussick SJ, Wood BL: Using 4-color flow cytometry to identify abnormal myeloid populations. Arch Pathol Lab Med 2003; 127: 1140-1147.
18. Cherian S, Moore J, Bantly A, et al: Peripheral blood MDS score: a new flow cytometric tool for the diagnosis of myelodysplastic syndromes. Cytometry B (Clin Cytom) 2005; 64: 9-17.
19. Malcovati L, Della Porta MG, Lunghi M, et al: Flow cytometry evaluation of erythroid and myeloid dysplasia in patients with myelodysplastic syndrome. Leukemia 2005; 19: 776-783.
20. Ogata K, Kishikawa Y, Satoh C, Tamura H, Dan K, Hayashi A: Diagnostic application of flow cytometric characteristics of CD34+ cells in low-grade myelodysplastic syndromes. Blood 2006; 108: 1037-1044.
21. Elghetany MT: Diagnostic utility of flow cytometric immunophenotyping in myelodysplastic syndrome. Blood 2002; 99: 391.
22. Stetler-Stevenson M, Rick M, Arthur D: Diagnostic flow cytometric immunophenotyping in myelodysplastic syndrome: the US-Canadian consensus recommendations on the immunophenotypic analysis of hematological neoplasia by flow cytometry apply. Blood 2002; 99: 392.
23. Ogata K, Nakamura K, Yokose N, et al: Clinical significance of phenotypic features of blasts in patients with myelodysplastic syndrome. Blood 2002; 100: 3887-3896.
24. Ogata K, Yoshida Y: Clinical implications of blast immunophenotypes in myelodysplastic syndromes. Leuk Lymphoma 2005; 46: 1269-1274.
25. Wells DA, Benesch M, Loken MR, et al: Myeloid and monocytic dyspoiesis as determined by flow cytometric scoring in myelodysplastic syndrome correlates with the IPSS and with outcome after hematopoietic stem cell transplantation. Blood 2003; 102: 394-403.
26. van Kamp H, Fibbe WE, Jansen RP, et al: Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene. Blood 1992; 80: 1774-1780.
27. Kibbelaar RE, van Kamp H, Dreef EJ, et al.: Combined immunophenotyping and DNA in situ hybridization to study lineage involvement in patients with myelodysplastic syndromes. Blood 1992; 79: 1823-1828.
28. Passegue E, Jamieson CH, Ailles LE, Weissman IL: Normal and leukemic hematopoiesis: are leukemias a stem cell disorder or a reacquisition of stem cell characteristics? Proc Natl Acad Sci USA 2003; 100 (Suppl 1): 11842-11849.
29. Warner JK, Wang JC, Hope KJ, Jin L, Dick JE: Concepts of human leukemic development. Oncogene 2004; 23: 7164-7177.
30. Civin CI, Almeida-Porada G, Lee MJ, Olweus J, Terstappen LW, Zanjani ED: Sustained, retransplantable, multilineage engraftment of highly purified adult human bone marrow stem cells in vivo. Blood 1996; 88: 4102-4109.
31. Bhatia M, Wang JC, Kapp U, Bonnet D, Dick JE: Purification of primitive human hematopoietic cells capable of repopulating immune-deficient mice. Proc Natl Acad Sci USA 1997; 94: 5320-5325.
32. Haase D, Feuring-Buske M, Konemann S, et al.: Evidence for malignant transformation in acute myeloid leukemia at the level of early hematopoietic stem cells by cytogenetic analysis of CD34+ subpopulations. Blood 1995; 86: 2906-2912.
33. Mehrotra B, George TI, Kavanau K, et al.: Cytogenetically aberrant cells in the stem cell compartment (CD34+lin-) in acute myeloid leukemia. Blood 1995; 86: 1139-1147.
34. Lapidot T, Sirard C, Vormoor J, et al.: A cell initiating human acute myeloid leukaemia after transplantation into SCID mice. Nature 1994; 367: 645-648.
35. Bonnet D, Dick JE: Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 1997; 3: 730-737.
36. Reya T, Morrison SJ, Clarke MF, Weissman IL: Stem cells, cancer, and cancer stem cells. Nature 2001; 414: 105-111.
37. Takano H, Ema H, Sudo K, Nakauchi H: Asymmetric division and lineage commitment at the level of hematopoietic stem cells: inference from differentiation in daughter cell and granddaughter cell pairs. J Exp Med 2004; 199: 295-302.
38. Sudo K, Ema H, Morita Y, Nakauchi H: Age-associated characteristics of murine hematopoietic stem cells. J Exp Med 2000; 192: 1273-1280.
39. Muller-Sieburg CE, Cho RH, Thoman M, Adkins B, Sieburg HB: Deterministic regulation of hematopoietic stem cell self-renewal and differentiation. Blood 2002; 100: 1302-1309.
40. Muller-Sieburg CE, Cho RH, Karlsson L, Huang JF, Sieburg HB: Myeloid-biased hematopoietic stem cells have extensive self-renewal capacity but generate diminished lymphoid progeny with impaired IL-7 responsiveness. Blood 2004; 103: 4111-4118.
41. Satoh C, Ogata K: Hypothesis: myeloid-restricted hematopoietic stem cells with self-renewal capacity may be the transformation site in acute myeloid leukemia. Leuk Res 2006; 30: 491-495.
42. Nilsson L, Astrand-Grundstrom I, Arvidsson I, et al.: Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level. Blood 2000; 96: 2012-2021.
43. Nilsson L, Astrand-Grundstrom I, Anderson K, et al.: Involvement and functional impairment of the CD34 (+) CD38 (-) Thy-1 (+) hematopoietic stem cell pool in myelodysplastic syndromes with trisomy 8. Blood 2002; 100: 259-267.
44. Thanopoulou E, Cashman J, Kakagianne T, Eaves A, Zoumbos N, Eaves C: Engraftment of NOD/SCID-beta2 microglobulin null mice with multilineage neoplastic cells from patients with myelodysplastic syndrome. Blood 2004; 103: 4285-4293.
45. Fenaux P: Chromosome and molecular abnormalities in myelodysplastic syndromes. Int J Hematol 2001; 73: 429-437.
46. Sloand EM, Mainwaring L, Fuhrer M, et al.: Preferential suppression of trisomy 8 compared with normal hematopoietic cell growth by autologous lymphocytes in patients with trisomy 8 myelodysplastic syndrome. Blood 2005; 106: 841-851.
47. Kaiser J: First pass at cancer genome reveals complex landscape. Science 2006; 313: 1370.
48. Esteller M: Epigenetics provides a new generation of oncogenes and tumour-suppressor genes. Br J Cancer 2006; 94: 179-183.
49. 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.
50. Silverman LR, Demakos EP, Peterson BL, et al.: Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: a study of the Cancer and Leukemia Group B. J Clin Oncol 2002; 20: 2429-2440.
51. Wijermans P, Lubbert M, Verhoef G, et al.: Low-dose 5-aza-2′- deoxycytidine, a DNA hypomethylating agent, for the treatment of high-risk myelodysplastic syndrome: a multicenter phase II study in elderly patients. J Clin Oncol 2000; 18: 956-962.
52. Yoshida Y: Hypothesis: apoptosis may be the mechanism responsible for the premature intramedullary cell death in the myelodysplastic syndrome. Leukemia 1993; 7: 144-146.
53. Raza A, Gezer S, Mundle S, et al.: Apoptosis in bone marrow biopsy samples involving stromal and hematopoietic cells in 50 patients with myelodysplastic syndromes. Blood 1995; 86: 268-276.
54. Bogdanovic AD, Trpinac DP, Jankovic GM, Bumbasirevic VZ, Obradovic M, Colovic MD: Incidence and role of apoptosis in myelodysplastic syndrome: morphological and ultrastructural assessment. Leukemia 1997; 11: 656-659.
55. Bouscary D, De Vos J, Guesnu M, et al: Fas/Apo-1 (CD95) expression and apoptosis in patients with myelodysplastic syndromes. Leukemia 1997; 11: 839-845.
56. Parker JE, Mufti GJ, Rasool F, Mijovic A, Devereux S, Pagliuca A: The role of apoptosis, proliferation, and the Bcl-2-related proteins in the myelodysplastic syndromes and acute myeloid leukemia secondary to MDS. Blood 2000; 96: 3932-3938.
57. Hellstrom-Lindberg E, Kanter-Lewensohn L, Ost A: Morphological changes and apoptosis in bone marrow from patients with myelodysplastic syndromes treated with granulocyte-CSF and erythropoietin. Leuk Res 1997; 21: 415-425.
58. Navas TA, Mohindru M, Estes M, et al: Inhibition of overactivated p38 MAPK can restore hematopoiesis in myelodysplastic syndrome progenitors. Blood (in press).
59. Bynoe AG, Scott CS, Ford P, Roberts BE: Decreased T helper cells in the myelodysplastic syndromes. Br J Haematol 1983; 54: 97-102.
60. Hamblin T: Immunologic abnormalities in myelodysplastic syndromes. Hematol Oncol Clin North Am 1992; 6: 571-586.
61. Porzsolt F, Heimpel H: Impaired T-cell and NK-cell function in patients with preleukemia. Blut 1982; 45: 243-248.
62. Knox SJ, Greenberg BR, Anderson RW, Rosenblatt LS: Studies of T-lymphocytes in preleukemic disorders and acute nonlymphocytic leukemia: in vitro radiosensitivity, mitogenic responsiveness, colony formation, and enumeration of lymphocytic subpopulations. Blood 1983; 61: 449-455.
63. Justesen J, Hokland P, Hokland M: The interferon/2-5A synthetase system in primary preleukaemia patients. Prog Clin Biol Res 1985; 202: 439-447.
64. Baumann MA, Milson TJ, Patrick CW, Libnoch JA, Keller RH: Immunoregulatory abnormalities in myelodysplastic disorders. Am J Hematol 1986; 22: 17-26.
65. Ogata K, Tamura H, Yokose N, et al: Effects of interleukin-12 on natural killer cell cytotoxicity and the production of interferon-gamma and tumour necrosis factor-alpha in patients with myelodysplastic syndromes. Br J Haematol 1995; 90: 15-21.
66. Yokose N, Ogata K, Ito T, et al.: Elevated plasma soluble interleukin 2 receptor level correlates with defective natural killer and CD8+ T-cells in myelodysplastic syndromes. Leuk Res 1994; 18: 777-782.
67. Ogata K, Yokose N, An E, et al.: Plasma soluble interleukin-2 receptor level in patients with primary myelodysplastic syndromes: a relationship with disease subtype and clinical outcome. Br J Haematol 1996; 93: 45-52.
68. Socie G, Henry-Amar M, Bacigalupo A, et al.: Malignant tumors occurring after treatment of aplastic anemia. N Engl J Med 1993; 329: 1152-1157.
69. List AF, Vardiman J, Issa JP, DeWitte TM: Myelodysplastic syndromes. Hematology (Am Soc Hematol Educ Program) 2004; 297-317.