The cytogenetics and molecular biology of myelodysplastic syndromes

The Myelodysplastic Syndromes: Pathobiology and Clinical Management

Volumn , Issue , 2002, Pages 89-120

  Olney, Harold J ^a   Le Beau, Michelle M ^b  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 70949091208     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (122)

1. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51:189-199.
2. Bagby GC, Jr. The concept of preleukemia: clinical and laboratory studies (review). Crit Rev Oncol Hematol 1986; 4:203-220.
3. Morel P, Hebbar M, Lai JL, Duhamel A, Preudhomme C, Wattel E, Bauters F, Fenaux P. Cytogenetic analysis has strong independent prognostic value in de novo myelodysplastic syndromes and can be incorporated in a new scoring system: a report on 408 cases. Leukemia 1993; 7:1315-1323.
4. Jotterand M, Parlier V. Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes. Leuk Lymphoma 1996; 23(3 -4):253-266.
5. Toyama K, Ohyashiki K, Yoshida Y, Abe T, Asano S, Hirai H, Hirashima K, Hotta T, Kuramot A, Kurix S, et al. Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan. Leukemia 1993; 7:499-508.
6. Sole F, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Luno E, Prieto F, Granada I, Hernandez JM, Cigudosa JC, Diez JL, Bureo E, Marques ML, Arranz E, Rios R, Martinez, Climent JA, Vallespi T, Florensa L, Woessner S. Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Espanol de Citoge-netica Hematologica. Br J Haematol 2000; 108:346-356.
7. Vallespi T, Imbert M, Mecucci C, Preudhomme C, Fenaux P. Diagnosis, classification, and cytogenetics of myelodysplastic syndromes (review). Haematologica 1998; 83:258-275.
8. Greenberg P, Cox C, Le Beau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Obyashiki K, Toyama K, Aul C, Mufti G, Bennett J. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89:2079-2088.
9. Bennett JM. World Health Organization classification of the acute leukemias and myelodysplastic syndrome (review). Int J Hematol 2000; 72:131-133.
10. Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, Lister TA, Bloomfield CD. World Health Organization 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 1999; 17:3835-3849.
11. Van den Berghe H, Michaux L. 5q-, twenty-five years later: a synopsis. Cancer Genet Cytogenet 1997; 94:1-7.
12. Jary L, Mossafa H, Fourcade C, Genet P, Pulik M, Flandrin G. The 17p- syndrome: a distinct myelodysplastic syndrome entity? Leuk Lymphoma 1997; 25:163-168.
13. Dewald GW, Pierre RV, Phyliky RL. Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. Blood 1982; 59:100-105.
14. Rowley JD. The role of chromosome translocations in leukemogenesis (review). Semin Hematol 1999; 36(Suppl 7):59-72.
15. Smadja N, Krulik M, Hagemeijer A, van der Plas DC, Gonzalez Canali G, de Gra-mont A. Cytogenetic and molecular studies of the Philadelphia translocation t(9;22) observed in a patient with myelodysplastic syndrome. Leukemia 1989; 3:236-238.
16. Sanz GF, Sanz MA, Vallespi T, Canizo MC, Torrabadella M, Garcia S, Irriguible D, San Miguel JF. 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 1989; 74:395-408.
17. Aul C, Gattermann N, Germing U, Runde V, Heyll A, Schneider W. Risk assessment in primary myelodysplastic syndromes: validation of the Dusseldorf score. Leukemia 1994; 8:1906-13.
18. Parlier V, van Melle G, Beris P, Schmidt PM, Tobler A, Haller E, Bellomo MJ. Prediction of 18-month survival in patients with primary myelodysplastic syndrome. A regression model and scoring system based on the combination of chromosome findings and the Bournemouth score. Cancer Genet Cytogenet 1995; 81: 158-165.
19. Sanz GF, Sanz MA, Greenberg PL. Prognostic factors and scoring systems in myelodysplastic syndromes (review). Haematologica 1998; 83:358-368.
20. Nevill TJ, Fung HC, Shepherd JD, Horsman DE, Nantel SH, Klingemann HG, Forrest DL, Toze CL, Sutherland HJ, Hogge DE, Naiman SC, Le A, Brockington DA, Barnett MJ. Cytogenetic abnormalities in primary myelodysplastic syndrome are highly predictive of outcome after allogeneic bone marrow transplantation. Blood 1998; 96:1910-1917.
21. Hamblin TJ, Oscier DG. The myelodysplastic syndrome—a practical guide (review). Hematol Oncol 1987; 5:19-34.
22. Horiike S, Taniwaki M, Misawa S, Abe T. Chromosome abnormalities and karyo-typic evolution in 83 patients with myelodysplastic syndrome and predictive value for prognosis. Cancer 1988; 62:1129-1138.
23. Geddes AA, Bowen DT, Jacobs A. Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome. Br J Haematol 1990; 76:194-202.
24. de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E. Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia. Leuk Res 2000; 24:839-848.
25. Prchal JT, Throckmorton DW, Carroll AJ 3rd, Fuson EW, Gams RA, Prchal JF. A common progenitor for human myeloid and lymphoid cells. Nature 1978; 274: 590-591.
26. Busque L, Gilliland DG. X-inactivation analysis in the 1990s: promise and potential problems (review). Leukemia 1998; 12:128-135.
27. Okamoto T, Okada M, Wada H, Kanamaru A, Kakishita E, Hashimoto T, Furuyama J. Clonal analysis of hematopoietic cells using a novel polymorphic site of the X chromosome. Am J Hematol 1998; 58:263-266.
28. Weimar IS, Bourhis JH, De Gast GC, Gerritsen WR. Clonality in myelodysplastic syndromes (review). Leuk Lymphoma 1994; 13:215-221.
29. Lawrence HJ, Broudy VC, Magenis RE, Olson S, Tomar D, Barton S, Fitchen JH, Bagby GC Jr. Cytogenetic evidence for involvement of B lymphocytes in acquired idiopathic sideroblastic anemias. Blood 1987; 70:1003-1005.
30. Nilsson L, Astrand-Grundstrom I, Arvidsson I, Jacobsson B, Hellstrom-Lindberg E, Hast R, Jacobsen SE. 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.
31. Asimakopoulos FA, Green AR. Deletions of chromosome 20q and the pathogenesis of myeloproliferative disorders (review). Br J Haematol 1996; 95:219-226.
32. Rebollo A, Martinez-A C. Ras proteins: recent advances and new functions (re view). Blood 1999; 94:2971-2980.
33. Neubauer A, Dodge RK, George SL, Davey FR, Silver RT, Schiffer CA, Mayer RJ, Ball ED, Wurster-Hill D, Bloomfield CD, et al. Prognostic importance of mutations in the ras proto-oncogenes in de novo acute myeloid leukemia. Blood 1994; 83:1603-1611.
34. Gallagher A, Darley R, Padua RA. RAS and the myelodysplastic syndromes (review). Pathol Biol (Paris) 1997; 45:561-568.
35. Beaupre DM, Kurzrock R. RAS and leukemia: from basic mechanisms to gene-directed therapy (review). J Clin Oncol 1999; 17:1071-1079.
36. Padua RA, Guinn BA, Al-Sabah AI, Smith M, Taylor C, Pettersson T, Ridge S, Carter G, White D, Oscier D, Chevret S, West R. RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up. Leukemia 1998; 12: 887-892.
37. de Souza Fernandez T, Menezes de Souza J, Macedo Silva ML, Tabak D, Abdelhay E. Correlation of N-ras point mutations with specific chromosomal abnormalities in primary myelodysplastic syndrome. Leuk Res 1998; 22:125-134.
38. Tien HF, Wang CH, Chuang SM, Chow JM, Lee FY, Liu MC, Chen YC, Shen MC, Lin DT, Lin KH. Cytogenetic studies, ras mutation, and clinical characteristics in primary myelodysplastic syndrome. A study on 68 Chinese patients in Taiwan. Cancer Genet Cytogenet 1994; 74:40-49.
39. Vander Heiden MG, Thompson CB. Bcl-2 proteins: regulators of apoptosis or of mitochondrial homeostasis? (review). Nat Cell Biol 1999; 1:E209-E216.
40. Raza A, Mundle S, Iftikhar A, Gregory S, Marcus B, Khan Z, Alvi S, Shetty V, Dameron S, Wright V, et al. Simultaneous assessment of cell kinetics and programmed cell death in bone marrow biopsies of myelodysplastics reveals extensive apoptosis as the probable basis for ineffective hematopoiesis. Am J Hematol 1995; 48:143-154.
41. 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.
42. Kurotaki H, Tsushima Y, Nagai K, Yagihashi S. Apoptosis, bcl-2 expression and p53 accumulation in myelodysplastic syndrome, myelodysplastic-syndrome-de-rived acute myelogenous leukemia and de novo acute myelogenous leukemia. Acta Haematol 2000; 102:115-123.
43. Reza S, Dar S, Andric T, Qawi H, Mundle S, Shetty V, Venugopal P, Ali I, Lisak L, Raza A. Biologic characteristics of 164 patients with myelodysplastic syndromes. Leuk Lymphoma 1999; 33:281-287.
44. Yoshida Y, Mufti GJ. Apoptosis and its significance in MDS: controversies revisited (review). Leuk Res 1999; 23:777-785.
45. Raza A, Mundle S, Shetty V, Alvi S, Chopra H, Span L, Parcharidou A, Dar S, Venugopal P, Borok R, Gezer S, Showel J, Loew J, Robin E, Rifkin S, Alston D, Hernandez B, Shah R, Kaizer H, Gregory S. Novel insights into the biology of myelodysplastic syndromes: excessive apoptosis and the role of cytokines (review). Int J Hematol 1996; 63:265-278.
46. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68:820-823.
47. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23:166-175.
48. Wattel E, Lai JL, Hebbar M, Preudhomme C, Grahek D, Morel P, Bauters F, Fenaux P. De novo myelodysplastic syndrome (MDS) with deletion of the long arm of chromosome 20: a subtype of MDS with distinct hematological and prognostic features? (review). Leuk Res 1993; 17:921-926.
49. Kurtin PJ, Dewald GW, Shields DJ, Hanson CA. Hematologic disorders associated with deletions of chromosome 20q: a clinicopathologic study of 107 patients. Am J Clin Pathol 1996; 106:680-688.
50. Davis MP, Dewald GW, Pierre RV, Hoagland HC. Hematologic manifestations associated with deletions of the long arm of chromosome 20. Cancer Genet Cyto-genet 1984; 12:63-71.
51. Aatola M, Armstrong E, Teerenhovi L, Borgstrom GH. Clinical significance of the del(20q) chromosome in hematologic disorders. Cancer Genet Cytogenet 1992; 62: 75-80.
52. Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene 2000; 19:3902-3913.
53. Wang PW, Eisenbart JD, Espinosa R 3rd, Davis EM, Larson RA, Le Beau MM. Refinement of the smallest commonly deleted segment of chromosome 20 in malignant myeloid diseases and development of a PAC-based physical and transcription map. Genomics 2000; 67:28-39.
54. Pierre RV, Hoagland HC. Age-associated aneuploidy: loss of Y chromosome from human bone marrow cells with aging. Cancer 1972; 30:889-894.
55. United Kingdom Cancer Cytogenetics Group (UKCCG). Loss of the Y chromosome from normal and neoplastic bone marrows. Genes Chromosomes Cancer 1992; 5:83-88.
56. Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, Van Dyke DL. Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer 2000; 27:11-16.
57. Thirman MJ, Larson RA. Therapy-related myeloid leukemia (review). Hematol Oncol Clin North Am 1996; 10:293-320.
58. West RR, Stafford DA, White AD, Bowen DT, Padua RA. Cytogenetic abnormalities in the myelodysplastic syndromes and occupational or environmental exposure. Blood 2000; 95:2093-2097.
59. Larson RA, LeBeau MM, Vardiman JW, Rowley JD. Myeloid leukemia after hema-totoxins. Environ Health Perspect 1996; 104(suppl 6):1303-1307.
60. Aul C, Bowen DT, Yoshida Y. Pathogenesis, etiology and epidemiology of myelodysplastic syndromes (review). Haematologica 1998; 83:71-86.
61. Pedersen-Bjergaard J, Andersen MK, Christiansen DH. Therapy-related acute myeloid leukemia and myelodysplasia after high-dose chemotherapy and autologous stem cell transplantation (review). Blood 2000; 95:3273-3279.
62. McCarthy CJ, Sheldon S, Ross CW, McCune WJ. Cytogenetic abnormalities and therapy-related myelodysplastic syndromes in rheumatic disease. Arthritis Rheum 1998; 41:1493-1496.
63. Hayes RB, Yin SN, Dosemeci M, Li GL, Wacholder S, Travis LB, Li CY, Rothman N, Hoover RN, Linet MS. Benzene and the dose-related incidence of hematologic neoplasms in China. Chinese Academy of Preventive Medicine—National Cancer Institute Benzene Study Group. J Natl Cancer Inst 1997; 89:1065-1071.
64. Fenaux P, Lucidarme D, Lai JL, Bauters F. Favorable cytogenetic abnormalities in secondary leukemia. Cancer 1989; 63:2505-2508.
65. Boultwood J, Lewis S, Wainscoat JS. The 5q- syndrome (review). Blood 1994; 84: 3253-3260.
66. Fairman J, Chumakov I, Chinault AC, Nowell PC, Nagarajan L. Physical mapping of the minimal region of loss in 5q- chromosome. Proc Natl Acad Sci USA 1995; 92:7406-7410.
67. Zhao N, Stoffel A, Wang PW, Eisenbart JD, Espinosa R 3rd, Larson RA, Le Beau MM. Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1-1.5 Mb and preparation of a PAC-based physical map. Proc Natl Acad Sci USA 1997; 94:6948-6953.
68. Jaju RJ, Boultwood J, Oliver FJ, Kostrzewa M, Fidler C, Parker N, McPherson JD, Morris SG, Muller U, Wainscoat JS, Kearney L. Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. Genes Chromosomes Cancer 1998; 22:251-256.
69. Horrigan SK, Arbieva ZH, Xie HY, Kravarusic J, Fulton NC, Naik H, Le TT, Westbrook CA. Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 2000; 95:2372-2377.
70. Le Beau MM, Espinosa R 3rd, Neuman WL, Stock W, Roulston D, Larson RA, Keinanen M, Westbrook C. Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc Natl Acad Sci USA 1993; 90:5484-5488.
71. Boultwood J, Fidler C, Strickson AJ, Watkins F, Kostrzewa M, Jaju RJ, Muller U, Wainscoat JS. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Genomics 2000; 66:26-34.
72. Luna-Fineman S, Shannon KM, Lange BJ. Childhood monosomy 7: epidemiology, biology, and mechanistic implications (review). Blood 1995; 85:1985-1999.
73. Emanuel PD. Myelodysplasia and myeloproliferative disorders in childhood: an update (review). Br J Haematol 1999; 105:852-863.
74. Martinez-Climent JA, Garcia-Conde J. Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes (review). J Pediatr Hematol Oncol 1999; 21:91-102.
75. Bjork J, Albin M, Mauritzson N, Stromberg U, Johansson B, Hagmar L. Smoking and myelodysplastic syndromes. Epidemiology 2000; 11:285-291.
76. Kere J. Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophoresis. Nucleic Acids Res 1989; 17:1511-1520.
77. Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, Cotter FE. Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood 1996; 87:3579-3586.
78. Le Beau MM, Espinosa R 3rd, Davis EM, Eisenbart JD, Larson RA, Green ED. Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood 1996; 88:1930-1935.
79. Fischer K, Frohling S, Scherer SW, McAllister Brown J, Scholl C, Stilgenbauer S, Tsui LC, Lichter P, Dohner H. Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 1997; 89:2036-2041.
80. Liang H, Fairman J, Claxton DF, Nowell PC, Green ED, Nagarajan L. Molecular anatomy of chromosome 7q deletions in myeloid neoplasms: evidence for multiple critical loci. Proc Natl Acad Sci USA 1998; 95:3781-3785.
81. Tosi S, Scherer SW, Giudici G, Czepulkowski B, Biondi A, Kearney L. Delineation of multiple deleted regions in 7q in myeloid disorders. Genes Chromosomes Cancer 1999; 25:384-392.
82. Dohner K, Brown J, Hehmann U, Hetzel C, Stewart J, Lowther G, Scholl C, Froh-ling S, Cuneo A, Tsui LC, Lichter P, Scherer SW, Dohner H. Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood 1998; 92:4031-4035.
83. Lewis S, Abrahamson G, Boultwood J, Fidler C, Potter A, Wainscoat JS. Molecular characterization of the 7q deletion in myeloid disorders. Br J Haematol 1996; 93: 75-80.
84. Johansson B, Mertens F, Mitelman F. Cytogenetic deletion maps of hematologic neoplasms: circumstantial evidence for tumor suppressor loci (review). Genes Chromosomes Cancer 1993; 8:205-218.
85. Wang P, Spielberger RT, Thangavelu M, Zhao N, Davis EM, Iannantuoni K, Larson RA, Le Beau MM. Dic(5;17): a recurring abnormality in malignant myeloid disorders associated with mutations of TP53. Genes Chromosomes Cancer 1997; 20: 282-291.
86. Lai JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Lepelley P, Wattel E, Fenaux P. 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.
87. Merlat A, Lai JL, Sterkers Y, Demory JL, Bauters F, Preudhomme C, Fenaux P. Therapy-related myelodysplastic syndrome and acute myeloid leukemia with 17p deletion. A report on 25 cases. Leukemia 1999; 13:250-257.
88. Sankar M, Tanaka K, Kumaravel TS, Arif M, Shintani T, Yagi S, Kyo T, Dohy H, Kamada N. Identification of a commonly deleted region at l7pl3.3 in leukemia and lymphoma associated with 17p abnormality. Leukemia 1998; 12:510-516.
89. Rowley JD. Molecular genetics in acute leukemia. Leukemia 2000; 14:513-517.
90. Bain BJ, Moorman AV, Johansson B, Mehta AB, Secker-Walker LM. Myelodysplastic syndromes associated with llq23 abnormalities. European llq23 Workshop participants. Leukemia 1998; 12:834-839.
91. Secker-Walker LM, Moorman AV, Bain BJ, Mehta AB. Secondary acute leukemia and myelodysplastic syndrome with llq23 abnormalities. EU Concerted Action llq23 Workshop. Leukemia 1998; 12:840-844.
92. Le Beau MM, Albain KS, Larson RA, Vardiman JW, Davis EM, Blough RR, Golomb HM, Rowley JD. 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 1986; 4:325-345.
93. Cortes J, O’Brien S, Kantarjian H, Cork A, Stass S, Freireich EJ, Keating M, Pierce S, Estey E. Abnormalities in the long arm of chromosome 11 (llq) in patients with de novo and secondary acute myelogenous leukemias and myelodysplastic syndromes. Leukemia 1994; 8:2174-2178.
94. Super HJ, McCabe NR, Thirman MJ, Larson RA, Le Beau MM, Pedersen-Bjergaard J, Philip P, Diaz MO, Rowley JD. Rearrangements of the MLL gene in therapy-related acute myeloid leukemia in patients previously treated with agents targeting DNA-topoisomerase II. Blood 1993; 82:3705-3711.
95. Look AT. Oncogenic transcription factors in the human acute leukemias (review). Science 1997; 278:1059-1064.
96. Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;l2) chromosomal translocation. Cell 1994; 77:307-316.
97. Rubin CM, Larson RA, Bitter MA, Carrino JJ, Le Beau MM, Diaz MO, Rowley JD. Association of a chromosomal 3;2l translocation with the blast phase of chronic myelogenous leukemia. Blood 1987; 70:1338-1342.
98. Rubin CM, Larson RA, Anastasi J, Winter JN, Thangavelu M, Vardiman JW, Rowley JD, Le Beau MM. t(3;2l)(q26;q22): a recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia. Blood 1990; 76:2594-2598.
99. Nucifora G, Begy CR, Kobayashi H, Roulston D, Claxton D, Pedersen-Bjergaard J, Parganas E, Ihle JN, Rowley JD. Consistent intergenic splicing and production of multiple transcripts between AML1 at 2lq22 and unrelated genes at 3q26 in (3; 2l)(q26;q22) translocations. Proc Natl Acad Sci USA 1994; 91:4004-4008.
100. Sitailo S, Sood R, Barton K, Nucifora G. Forced expression of the leukemia-associated gene EVI1 in ES cells: a model for myeloid leukemia with 3q26 rearrangements. Leukemia 1999; 13:1639-1645.
101. Sood R, Talwar-Trikha A, Chakrabarti SR, Nucifora G. MDS1/EVI1 enhances TGF-beta 1 signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AML1/MDS1/EVI1, product of the t(3;21), abrogates growth-inhibition in response to TGF-beta1. Leukemia 1999; 13:348-357.
102. Rowley JD, Reshmi S, Sobulo O, Musvee T, Anastasi J, Raimondi S, Schneider NR, Barredo JC, Cantu ES, Schlegelberger B, Behm F, Doggett NA, Borrow J, Zeleznik-Le N. All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood 1997; 90:535-541.
103. Lepelley P, Soenen V, Preudhomme C, Merlat A, Cosson A, Fenaux P. bcl-2 expression in myelodysplastic syndromes and its correlation with hematological features, p53 mutations and prognosis. Leukemia 1995; 9:726-730.
104. Ridge SA, Worwood M, Oscier D, Jacobs A, Padua RA. FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc Natl Acad Sci USA 1990; 87:1377-1380.
105. Kiyoi H, Towatari M, Yokota S, Hamaguchi M, Ohno R, Saito H, Naoe T. Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product. Leukemia 1998; 12:1333-1337.
106. Horiike S, Yokota S, Nakao M, Iwai T, Sasai Y, Kaneko H, Taniwaki M, Kashima K, Fujii H, Abe T, Misawa S. Tandem duplications of the FLT3 receptor gene are associated with leukemic transformation of myelodysplasia. Leukemia 1997; 11: 1442-1446.
107. Arland M, Fiedler W, Samalecos A, Hossfeld DK. Absence of point mutations in a functionally important part of the extracellular domain of the c-kit proto-oncogene in a series of patients with acute myeloid leukemia (AML). Leukemia 1994; 8: 498-501.
108. Siitonen T, Savolainen ER, Koistinen P. Expression of the c-kit proto-oncogene in myeloproliferative disorders and myelodysplastic syndromes. Leukemia 1994; 8: 631-637.
109. Zochbauer S, Gsur A, Gotzl M, Wallner J, Lechner K, Pirker R. MDR1 gene expression in myelodysplastic syndrome and in acute myeloid leukemia evolving from myelodysplastic syndrome. Anticancer Res 1994; 14:1293-1295.
110. Bueso-Ramos CE, Manshouri T, Haidar MA, Huh YO, Keating MJ, Albitar M. Multiple patterns of MDM-2 deregulation in human leukemias: implications in leu-kemogenesis and prognosis (review). Leuk Lymphoma 1995; 17:13-18.
111. Faderl S, Kantarjian HM, Estey E, Manshouri T, Chan CY, Rahman Elsaied A, Komblau SM, Cortes J, Thomas DA, Pierce S, Keating MJ, Estrov Z, Albitar M. The prognostic significance of p16(INK4a)/p14(ARF) locus deletion and MDM-2 protein expression in adult acute myelogenous leukemia. Cancer 2000; 89:1976-1982.
112. Ogata K, Tamura H. Thrombopoietin and myelodysplastic syndromes (review). Int J Hematol 2000; 72:173-177.
113. Bouscary D, Preudhomme C, Ribrag V, Melle J, Viguie F, Picard F, Guesnu M, Fenaux P, Gisselbrecht S, Dreyfus F. Prognostic value of c-mpl expression in myelodysplastic syndromes. Leukemia 1995; 9:783-788.
114. Tidow N, Kasper B, Welte K. Clinical implications of G-CSF receptor mutations. Crit Rev Oncol Hematol 1998; 28:1-6.
115. Shannon KM, O’Connell P, Martin GA, Paderanga D, Olson K, Dinndorf P, McCormick F. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 1994; 330:597-601.
116. Gallagher A, Darley RL, Padua R. The molecular basis of myelodysplastic syndromes (review). Haematologica 1997; 82:191-204.
117. Padua RA, West RR. Oncogene mutation and prognosis in the myelodysplastic syndromes. Br J Haematol 2000; 111:873-874.
118. Counter CM, Gupta J, Harley CB, Leber B, Bacchetti S. Telomerase activity in normal leukocytes and in hematologic malignancies. Blood 1995; 85:2315-2320.
119. Norrback KF, Roos G. Telomeres and telomerase in normal and malignant haematopoietic cells (review). Eur J Cancer 1997; 33:774-780.
120. Xu D, Gruber A, Peterson C, Pisa P. Telomerase activity and the expression of telomerase components in acute myelogenous leukaemia. Br J Haematol 1998; 102: 1367-1375.
121. Li B, Yang J, Andrews C, Chen YX, Toofanfard P, Huang RW, Horvath E, Chopra H, Raza A, Preisler HD. Telomerase activity in preleukemia and acute myelogenous leukemia. Leuk Lymphoma 2000; 36:579-587.
122. Misawa S, Horiike S. TP53 mutations in myelodysplastic syndrome (review). Leuk Lymphoma 1996; 23:417-422.