Clinical and prognostic characterization of myelodysplastic syndromes

Myelodysplastic Syndromes: Clinical and Biological Advances

Volumn , Issue , 2005, Pages 1-33

  Peter, L Greenberg ^a  

^a STANFORD CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84928625307     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511545269.002     Document Type: Chapter

References (108)

1. Greenberg, P. L. (2000). The myelodysplastic syndromes. In Hematology: Basic Principles and Practice, 3rd edn, ed. R. B. E. Hoffman, S. Shattil, and H. Cohen. New York: Churchill Livingstone, pp. 1106–29.
2. Bennett, J. M., Catovsky, D., Daniel, M. T. et al. (1982). Proposals for the classification of the myelodysplastic syndrome. Br. J. Haematol., 51, 189.
3. Groupe Franc¸ais de Cytog´en´etique H´ematologique (1991). Chronic myelomonocytic leukemia: single entity or heterogeneous disorder? A prospective multicenter study of 100 patients. Cancer Genet. Cytogenet., 55, 57.
4. Bennett, J. M., Catovsky, D., Daniel, M. T. et al. (1994). The chronic myeloid leukemias: guidelines for distinguishing chronic granulocytic, atypical chronic myeloid, and chronic myelomonocytic leukemia. Br. J. Haematol., 87, 746.
5. Harris, N., Jaffe, E., Diebold, J. et al. (1999). WHO classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting – Airlie House, Virginia, November 1997. J. Clin. Oncol., 17, 3835–49.
6. Bennett, J. M. (2000). WHO classification of the acute leukemias and myelodysplastic syndrome. Int. J. Hematol., 72, 131–3.
7. Brunning, R. D., Bennett, J. M., Flandrin, G. et al. (2001). Myelodysplastic syndromes. In Tumours of the Hematopoietic and Lymphoid Tissues, ed. E. S. Jaffe, N. L. Harris, H. Stein, and J. Vardiman. Lyon, France: IARC Press, pp. 62–73.
8. Rosati, S., Anastasi, J., and Vardiman, J. (1996). Recurring diagnostic problems in the pathology of the myelodysplastic syndromes. Semin. Hematol., 33, 111–26.
9. Katoutsi, V., Kohlmeyer, U., Maschek, H. et al. (1994).Comparison of bone marrow and hematologic findings in patientswithhumanimmunodeficiency virus infection and those with myelodysplastic syndromes and infectious disease. Am. J. Clin. Pathol., 101, 123.
10. Sokal, G., Michaux, J., Van den Berghe, H. et al. (1975). A new hematological syndrome with a distinct karyotype: the 5q− chromosome. Blood, 46, 519.
11. Mathew, P., Tefferi, A., Dewald, G. W. et al. (1993). The 5q− syndrome: a single institution study of 43 consecutive patients. Blood, 81, 1040.
12. Larripa, I., Acevedo, S., Paulau, N. M. et al. (1991). Leukemic transformation in patients with 5q− and additional abnormalities. Haematologica, 76, 363.
13. Albitar, M., Manshouri, T., Shen, Y. et al. (2002).Myelodysplastic syndrome is not merely “preleukemia”. Blood, 100, 791–8.
14. Greenberg, P., Anderson, J., de Witte, T. et al. (2000). Problematic WHO reclassification of myelodysplastic syndromes. J. Clin. Oncol., 18, 3447–9.
15. Germing, U., Gatterman, N., Strupp, C., Aivado, M., and Aul, C. (2000). Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: a retrospective analysis of 1600 patients. Leuk. Res., 24, 983–92.
16. Nosslinger, T., Reisner, R., Koller, E. et al. (2001). Myelodysplastic syndromes, from French–American–British to World Health Organization: comparison of classifications on 431 unselected patients from a single institution. Blood, 98, 2935–41.
17. Greenberg, P. L., Bennet, J., Bloomfield, C. et al. (2003). NCCN practice guidelines for myelodysplastic syndromes, version 2004. J. Natl Comp. Cancer Network (JNCCN), 1, 456–71.
18. Bowen, D., Culligan, D., Jowitt, S. et al.(2003). UK MDS guidelines group. Guidelines for the diagnosis and therapy of adult myelodysplastic syndromes. Br. J. Haematol., 120, 187–200.
19. Alessandrino, E. P., Amadori, S., Barosi, G. et al.Italian Society of Hematology: evidence- and consensus-based practice guidelines for the therapy of primary myelodysplastic syndromes. A statement from the Italian Society of Hematology. Haematologica, 87, 1286–306.
20. Yoshida, Y., Oguma, S., Uchino, H. et al. (1988). Refractory myelodysplastic anaemias with hypocellular bone marrow. J. Clin. Pathol., 41, 763.
21. Maschek, H., Kalousti, V., Rodriguez-Kaiser, M.et al. (1993).Hypoplasticmyelodysplastic syndrome: incidence, morphology, cytogenetics, and prognosis. Ann. Hematol., 66, 117.
22. Toyama, K., Ohyashiki, K., Yoshida, Y. et al. (1993). Clinical and cytogenetic findings ofmyelodysplastic syndromes showing hypocellular bone marrow or minimal dysplasia, in comparison with typical myelodysplastic syndromes. Int. J. Hematol., 58, 33.
23. Tichelli, A., Gratwohl, A., and Nissen, C. (1994). Late clonal complications in severe aplastic anemia. Leuk. Lymphoma, 12, 167.
24. Maschek, H., Georgii, A., Kaloutsi, V. et al. (1992). Myelofibrosis in primary myelodysplastic syndromes: a retrospective study of 352 patients. Eur. J. Haematol., 48, 208.
25. Ohyashiki, K., Sasao, I., Ohyashiki, J. H. et al. (1991). Clinical and cytogenetic characteristics ofmyelodysplastic syndromes developingmyelofibrosis. Cancer, 68, 178.
26. Park, D. J. and Koeffler, H. (1996). Therapy-related myelodysplastic syndromes. Semin. Hematol., 33, 256.
27. Krishnan, A., Bhatia, S., Slovak, M. L. et al. (2000). Predictors of therapy-related leukemia andmyelodysplasia following autologous transplantation for lymphoma: an assessment of risk factors. Blood, 95, 1588.
28. Pedersen-Bjergaard, J., Aandersen, M., and Christiansen, D. H. (2000). Therapyrelated acute myeloid leukemia and myelodysplasia after high-dose chemotherapy and autologous stem cell transplantation. Blood, 95, 3273–9.
29. Le Beau, M. M., Albain, K., Larson, R. A. et al. (1986). Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7. J. Clin. Oncol., 4, 325.
30. Jacobs, R. H., Cornbleet, M. A., Vardiman, J. et al. (1986). Prognostic implications of morphology and karyotype in primary myelodysplastic syndromes. Blood, 67, 1765.
31. Pedersen-Bjergaard, J., Philip, P., Larsen, S. O. et al. (1990). Chromosome aberrations and prognostic factors in therapy-related myelodysplasia and acute nonlymphocytic leukemia. Blood, 76, 1083.
32. Pedersen-Bjergaard, J. and Philip, P. (1991). Balanced translocations involving chromosome bands 11q23 and 21q22 are highly characteristic of myelodysplasia and leukemia following therapy with cytostatic agents targeting at DNA-topoisomerase II. Blood, 78, 1147.
33. Zhang, L., Rothman, N., Wang, Y. et al. (1996). Interphase cytogenetics of workers exposed to benzene. Environ. Health Perspect., 104, 1325–9.
34. Sanz, G. F., Sanz, M., Vallespi, T. et al. (1989). Two regression models and a scoring system for predicting survival and planning treatment in myelodysplastic syndromes: a multivariate analysis of prognostic factors in 370 patients. Blood, 74, 395–408.
35. Morel, P., Hebbar, M., Lai, J. et al. (1993).Cytogenetic analysis has strong prognostic value in de novo myelodysplastic syndromes and can be incorporated in a new scoring system: a report on 408 cases. Leukemia, 7, 1315.
36. Mufti, G. J., Stevens, J., Oscier, D. G., Hamblin, T. J., and Machin, D. (1985).
37. Myelodysplastic syndromes: a scoring system with prognostic significance. Br. J. Haematol., 59, 425.
38. Aul, C., Gatterman, N., Heyll, A., and Germing, U. (1992). Primarymyelodysplastic syndromes: analysis of prognostic factors in 235 patients and proposals for an improved scoring system. Leukemia, 6, 52.
39. Toyama, K., Ohyakashi, K., Yoshida, Y., and Abe, T. (1993). Clinical implications of chromosomal abnormalities in 401 patients with MDS: a multicentric study in Japan. Leukemia, 7, 499.
40. Worsley, A., Oscier, D., Stevens, J. et al. (1988). Prognostic features of chronic myelomonocytic leukaemia: a modified Bournemouth score gives the best prediction of survival. Br. J. Haematol., 68, 17.
41. Del Canizo, M. C., Sanz, G., SanMiguel, J. F. et al. (1989). Chronicmyelomonocytic leukemia clinico-biological characteristics: a multivariate analysis in a series of 70 cases. Eur. J. Haematol., 42, 466.
42. Stark, A. N., Thorgood, J., Head, C. et al. (1987). Prognostic factors and survival in chronic myelomonocytic leukaemia (CMML). Br. J. Cancer, 56, 59.
43. Lambertenghi-Deliliers, G., Orazi, A., Luksch, R. et al. (1991). Myelodysplastic syndrome with increased marrow fibrosis: a distinct clinico-pathological entity. Br. J. Haematol., 78, 161.
44. Onida, F. Kantiarjian, H., Smith, T. L. et al. (2002). Prognostic factors and scoring systems in chronic myelomonocytic leukemia: a retrospective analysis of 213 patients. Blood, 99, 840–9.
45. Gatto, S., Ball, G., Onida, F. et al. (2003). Contribution of beta-2 microglobulin levels to the prognostic stratification of survival in patients with myelodysplastic syndrome (MDS). Blood, 102, 1622–5.
46. Wimazal, F., Sperr, W., Kundi, M. et al. (2001). Prognostic value of lactate dehydrogenase activity in myelodysplastic syndromes. Leuk. Res., 25, 287–94.
47. Greenberg, P., Cox, C., Le Beau, M. M. et al. (1997). International scoring system (IPSS) for evaluating prognosis in myelodysplastic syndrome. Blood, 89, 2079–88.
48. Vanden Berghe, H. andMichaux, L. (1997). 5q−, twenty-five years later: a synopsis. Cancer Genet. Cytogenet., 94, 1–7.
49. List, A. F., Kurtin, S., Glinsmann-Gibson, B. et al. (2003). Efficacy and safety of CC5013for treatment of anemia in patientswithmyelodysplastic syndromes. Blood, 102, abstract 641.
50. Tricot, G., Dewolf-Peeter, C., Vlietinck, R. et al. (1984). Bone marrow histology in myelodysplastic syndromes: II. Prognostic values of abnormal localization of immature precursors in MDS. Br. J. Haematol., 58, 217.
51. Tricot, G., Vlietinck, R., Boogaerts, M. A. et al. (1985). Prognostic factors in the myelodysplastic syndromes: importance of initial data on peripheral blood counts, bone marrowcytology, trephine biopsy and chromosomal analysis. Br. J.Haematol., 60, 19.
52. Greenberg, P. L. (1996). Biologic and clinical implications of marrowculture studies in the myelodysplastic syndromes. Semin. Hematol., 33, 163–75.
53. Berthier, R., Douday, F., Metral, J. et al. (1979). Invitro granulopoiesis in oligoblastic leukemia: prognostic value, characterization, and serial cloning of bone marrow colony and cluster forming cells in agar culture. Biomedicine, 30, 305.
54. Greenberg, P. L., Bax, I., Mara, B. et al. (1976). The myeloproliferative disorders: correlation between clinical evolution and alteration of granulopoiesis. Am. J.Med., 61, 878.
55. Faille, A., Dresch, C., Poirer, O. et al. (1978). Prognostic value of in vitro bone marrow culture in refractory anaemia with excess of myeloblasts. Scand. J. Haematol., 20, 280.
56. Milner, G. R., Testa, N., Geary, C. G. et al. (1977). Bone marrowstudies in refractory cytopenia and smoldering leukaemia. Br. J. Haematol., 35, 251.
57. Spitzer, G., Verma, D., Dicke, K. et al. (1979). Subgroups of oligoleukemia as identified by in vitro agar culture. Leuk. Res., 3, 29.
58. Verma, D. S., Spitzer, G., Dicke, K. A. et al. (1979). In vitro agar culture patterns in preleukemia and their clinical significance. Leuk. Res., 3, 41.
59. Greenberg, P., Cox, C., and Bennett, J. (1997). IPSS and other prognostic scoring systems for MDS. Blood, 90, 4232–4.
60. Pierre, R.V., Catovsky, D., Mufti, G. J. et al. (1989). Clinical-cytogenetic correlations in myelodysplasia (preleukemia). Cancer Genet. Cytogenet., 40, 149.
61. Yunis, J. J., Lobell, M., Arnesen, M. A. et al. (1988). Refined chromosome study helps define prognostic subgroups in most patients with primary myelodysplastic syndrome and acute myelogenous leukaemia. Br. J. Haematol., 68, 189.
62. Greenberg, P., Le Beau, M., Fenaux, P. et al. (1997). Application of the International Prognostic Scoring System for MDS. Blood, 90, 2843–6.
63. Pfeilstocker, M., Reisner, R., Nosslinger, T. et al. (1999). Cross-validation of prognostic scores inmyelodysplastic syndromes on 386 patients froma single institution confirms importance of cytogenetics. Br. J. Haematol., 106, 455–63.
64. Verburgh, E., Achten, R., Maes, B. et al. (2003). Additional prognostic value of bone marrow histology in patients subclassified according to the International Prognostic Scoring System for myelodysplastic syndromes. J. Clin. Oncol., 21, 273–82.
65. Zhao, W. L., Xu, L., Wu, W. et al. (2002). The myelodysplastic syndromes: analysis of prognostic factors and comparison of prognostic systems in 128 Chinese patients from a single institution. Hematol. J., 3, 137–44.
66. Lee, J. H., Lee, J., Shin, Y. R. et al. (2003). Application of different prognostic scoring systems and comparison of the FAB and WHO classifications in Korean patients with myelodysplastic syndrome. Leukemia, 17, 305–13.
67. Cermak, J., Vitek, A., andMichalova, K. (2004). Combined stratification of refractory anemia according to bothWHOand IPSS criteria has a prognostic impact and improves identification of patients who may benefit from stem cell transplantation. Leuk. Res., 28, 551–7.
68. Nevill, T. J., Fung, H., Shepherd, J. D. et al. (1998). Cytogenetic abnormalities in primarymyelodysplastic syndromeare highly predictive of outcomeafter allogeneic bone marrow transplantation. Blood, 92, 1910–17.
69. Appelbaum, F. R. and Anderson, J. (1998). Allogeneic bone marrow transplantation for myelodysplastic syndrome: outcomes analysis according to IPSS score. Leukemia, 12(suppl. 1), S25–9.
70. Sole, F., Epsinet, B., Sanz, G. F. et al. (2000). Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Espa˜nol de Citogen´etica Hematol ´ ogica. Br. J. Haematol., 108, 346–56.
71. Maes, B., Meeus, P., Michaux, L. et al. (1999). Application of the International Prognostic Scoring System for myelodysplastic syndromes. Ann. Oncol., 10, 825–9.
72. Lambertenghi Deliliers, G., Annaloro, C., Soligo, D., and Oriani, A. (1998). The diagnostic and prognostic value of bone marrowimmunostaining inmyelodysplastic syndromes. Leuk. Lymphoma, 28, 231–9.
73. Bellamy, W. T., Richter, L., Sirjani, D. et al. (2001). Vascular endothelial cell growth factor is an autocrine promoter of abnormal localized immature myeloid precursors and leukemia progenitor formation in myelodysplastic syndromes. Blood, 97, 1427–34.
74. Pruneri, G., Bertolini, F., Soligo, D. et al. (1999). Angiogenesis in myelodysplastic syndromes. Br. J. Cancer, 81, 1398–401.
75. Aguayo, A., Kantarjian, H., Manshouri, T. et al. (2000). Angiogenesis in acute and chronic leukemias and myelodysplastic syndromes. Blood, 96, 2240–5.
76. Ogata, T., Nakamura, K., Yokose, N. et al. (2002). Clinical significance of phenotypic features of blasts in patients with myelodysplastic syndrome. Blood, 100, 3887–96.
77. Wells, D. A., Benesch, M., Loken, M. R. et al. (2003). 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, 102, 394–403.
78. Dunn, D. E., Tanattanacharoen, P., Boccuni, P. et al. (1999). Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann. Intern. Med., 131, 401–8.
79. Saunthararajah, Y., Nakamura, R., Nam, J. M. et al. (2002). HLA-DR15 (DR2) is over-represented in myelodysplastic syndrome and aplastic anemia and predicts a response to immunosuppression inmyelodysplastic syndrome. Blood, 100, 1570–4.
80. Maciejewski, J. P., Follman, D., Nakamura, R. et al. (2001). Increased frequency of HLA-DR2 in patients with paroxysmal nocturnal hemoglobinuria and the PNH/aplastic anemia syndrome. Blood, 98, 3513–19.
81. Padua, R. A., Guinn, B., Al-Sabah, A. I. et al. (1998). RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up. Leukemia, 12, 887–92.
82. Shih, L. Y., Huang, C., Wang, P. N. et al. (2004). Acquisition of FLT3 or N-ras mutations is frequently associated with progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia, 18, 466–75.
83. Paquette, R. L., Landaw, E., Pierre, R.V. et al.(1993). N-rasmutations are associated with poor prognosis and increased risk of leukemia in myelodysplastic syndrome. Blood, 82, 590–9.
84. Neubauer, A., Greenberg, P., Negrin, R. et al. (1994). Mutations in the ras protooncogenes in patients with myelodysplastic syndromes. Leukemia, 8, 638.
85. Ridge, S. A., Worwood, M., Oscier, D. et al. (1990). FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc. Natl Acad. Sci. U.S.A., 87, 1377.
86. Tobal, K., Pagliuca, A., Bhatt, B. et al. (1990). Mutation of the human FMS gene (M-CSF receptor) in myelodysplastic syndromes and acute myeloid leukemia. Leukemia, 4, 486.
87. Fidler, C., Watkins, F., Bowen, D. T. et al. (2004). N-Ras, Flt3 and TP53 mutations in patients with myelodysplastic syndrome and a del(5q). Haematologica, 89, 865–6.
88. Sugimoto, K., Hirano, N., Toyoshima, H. et al. Mutations of the p53 gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Blood, 81, 3022.
89. Adamson, D. J., Dawson, A., Bennett, B. et al. (1995). p53mutation in themyelodysplastic syndromes. Br. J. Haematol., 89, 61.
90. Horiike, S., Kita-Sasai, Y., Nakao, M., and Taniwaki, M. (2003).Configuration of the TP53 gene as an independent prognostic parameter of myelodysplastic syndrome. Leuk. Lymphoma, 44, 915–22.
91. Tang, J. L., Tien, H., Lin, M. T. et al. (1998). p53 mutation in advanced stage of primary myelodysplastic syndrome. Anticancer Res., 18, 3757.
92. Mori, N., Hidai, H., Yokota, J. et al. (1995).Mutations of the p53 gene inmyelodysplastic syndrome and overt leukemia. Leuk. Res., 19, 869.
93. Horiike, S., Misawa, S., Kaneko, H. et al. (1999). Distinct genetic involvement of the TP53 gene in therapy-related leukemia and myelodysplasia with chromosomal losses of nos 5 and/or 7 and its possible relationship to replication error phenotype. Leukemia, 13, 1235.
94. Wattel, E., Preudhomme, C., Hecquet, B. et al. (1994). p53 mutations are associated with resistance to chemotherapy and short survival in hematologic malignancies. Blood, 84, 3148.
95. Ben-Yehuda, D., Krichevsky, S., Caspi, O. et al. (1996).Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype. Blood, 88, 4296.
96. Kita-Sasai, Y., Horiike, S., Misawa, S. et al. (2001). International prognostic scoring system and TP53mutations are independent prognostic indicators for patientswith myelodysplastic syndrome. Br. J. Haematol., 115, 309–12.
97. Lai, J. L., Preudhomme, C., Zandecki, M. et al. (1995).Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of p53 mutations. Leukemia, 9, 370.
98. Cilloni, D., Gottardi, E., Messa, F. et al. (2003). Significant correlation between the degree of WT1 expression and the International Prognostic Scoring System Score in patients with myelodysplastic syndromes. J. Clin. Oncol., 21, 1988–95.
99. Boudard, D., Vasselon, C., Bertheas, M. F. et al. (2002). Expression and prognostic significance of Bcl-2 family proteins inmyelodysplastic syndromes.Am. J.Hematol., 70, 115–25.
100. Rajapaksa, R., Ginzton, N., Rott, L. (1996). Altered oncogene expression and apoptosis in myelodysplastic syndrome marrow cells. Blood, 88, 4275–87.
101. Parker, J. E., Mufti, G., Rasool, F. et al. (2000). The role of apoptosis, proliferation, and the Bcl-2-related proteins in themyelodysplastic syndromes and acutemyeloid leukemia secondary to MDS. Blood, 96, 3932–8.
102. Davis, R. E. and Greenberg, P. L. (1998). Bcl-2 expression by myeloid precursors in myelodysplastic syndromes: impact on disease progression. Leuk. Res., 22, 767–77.
103. Quesnel, B., Guillerm, G., Vereecque, R. et al. (1998).Methylationof the p15(INK4b) gene in myelodysplastic syndromes is frequent and acquired during disease progression. Blood, 91, 2985–90.
104. Nakao, M., Horiike, S., Fukushima-Nakase, Y. et al. (2004). Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic
105. leukaemia and myelodysplastic syndrome. Br. J. Haematol., 125, 709–19.
106. Harada, H., Harada, Y., Niimi, H. et al. (2004).High incidence of somaticmutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood, 103, 2316–24.
107. Shih, L. Y., Lin, T., Wang, P. N. et al. (2004). Internal tandem duplication of fms-like tyrosine kinase 3 is associated with poor outcome in patients with myelodysplastic syndrome. Cancer, 101, 989–98.
108. Ohyashiki, J. H., Iwama, H., Yahata, N. et al. (1999). Telomere stability is frequently impaired in high-risk groups of patients with myelodysplastic syndromes. Clin. Cancer Res., 5, 1155–60.