Myelodysplastic Syndromes

Cancer Cytogenetics

Volumn , Issue , 2010, Pages 141-178

[No Author Info available]

Author keywords

Acute myeloid leukemia; Bone marrow; Chronic myelomonocytic leukemia; Cytogenetic evaluation; Myelodysplastic syndromes

Indexed keywords

EID: 84886338661     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118010136.ch6     Document Type: Chapter

References (177)

1. Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H (1997), Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. Blood 90, 4271-4277.
2. Adeyinka A, Dewald GW (2003), Cytogenetics of chronic myeloproliferative disorders and related myelodysplastic syndromes. Hematol Oncol Clin North Am 17, 1129-1149.
3. Alcalay M, Orleth A, Sebastiani C, Meani N, Chiaradonna F, Casciari C, Sciurpi MT, Gelmetti V, Riganelli D, Minucci S, Fagioli M, Pellicci PG (2001), Common themes in the pathogenesis of acute myeloid leukemia. Oncogene 20, 5680-5694.
4. Apperley JF, Gardembas M, Melo JV, Russell-Jones R, Bain BJ, Baxter EJ, Chase A, Chessells JM, Colombat M, Dearden CE, Dimitrijevic S, Mahon FX, Marin D, Nikolova Z, Olavarria E, Silberman S, Schultheis B, Cross NC, Goldman JM (2002), Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med 347, 481-487.
5. Arland M, Fiedler W, Samalecos A, Hossfeld DK (1994), 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 8, 498-501.
6. Armstrong SA, Staunton JE, Silverman LB, Pieters R, Minden MD, Sallan SE, Lander ES, Golub TR, Korsmeyer SJ (2002), MLL translocation specify a distinct gene expression profile that distinguishes a unique leukemia. Nat Genet 30, 41^47.
7. Aul C, Bowen DT, Yoshida Y (1998), Pathogenesis, etiology and epidemiology of myelodysplastic syndromes. Haematologica 83, 71-86.
8. Bacher U, Haferlach T, Kern W, Haferlach C, Schnittger S (2007), A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. Haematologica 92, 744-752.
9. Bain BJ, Moorman AV, Johansson B, Mehta AB, Seeker-Walker LM (1998), Myelodysplastic syndromes associated with 1 Iq23 abnormalities. Leukemia 12, 834-839.
10. Beaupre DM, Kurzrock R (1999), RAS and leukemia, from basic mechanisms to gene-directed therapy. J Clin Oncol 17, 1071-1079.
11. Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, Champion KM, Li J, WhittakerP, Stavrides G, Hunt AR, Huntly BJ, Campbell LJ, Bentley DR, Deloukas P, Green AR (2000), 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 19, 3902-3913.
12. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C (1982), Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 51, 189-199.
13. Bjork J, Albin M, Mauritzson N, Stromberg U, Johansson B, Hagmar L (2000), Smoking and myelodysplastic syndromes. Epidemiology 11, 285-291.
14. Block AW, Carroll AJ, Hagemeijer A, Michaux L, van Lorn K, OIney HJ, Baer MR (2002), Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia, report from an international workshop. Genes Chromosomes Cancer 33, 401-412.
15. Bloomfield CD, Archer KJ, Mrozek K, Lillington DM, Kaneko Y, Head DR, Dal Cin P, Raimondi SC (2002), 11 q23 balanced chromosome aberrations in treatment-related myelodysplastic syndromes and acute leukemia, report from an international workshop. Genes Chromosomes Cancer 33, 362-378.
16. Boultwood J, Lewis S, Wainscoat JS (1994), The 5q- syndrome. Blood 84, 3253-3260.
17. Boultwood J, Fidler C, Strickson AJ, Watkins F, Gama S, Kearney L, Tosi S, Kasprzyk A, Cheng JF, Jaju RJ, Wainscoat JS (2002), Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. Blood 99, 4638-4641.
18. Boultwood J, Pellagatti A, Cattan H, Lawrie CH, Giagounidis A, Malcovati L, Delia Porta MG, Jadersten M, Killick S, Fidler C, Cazzola M, Hellstom-Lindberg E, Wainscoat JS (2007), Gene expression profiling of CD34+ cells in patients with the 5q- syndrome. Br J Haematol 139, 578-589.
19. Bouscary D, Preudhomme C, Ribrag V, Melle J, Viguie F, Picard F, Guesnu M, Fenaux P, Gisselbrecht S, Dreyfus F (1995), Prognostic value of c-mpl expression in myelodysplastic syndromes. Leukemia 9, 783-788.
20. Bowen D, Culligan D, Jowitt S, Kelsey S, Mufti G, Oscier D, Parker J (2003), Guidelines for the diagnosis and therapy of adult myelodysplastic syndromes. Br J Haematol 120, 187-200.
21. Bueso-Ramos CE, Manshouri T, Haidar MA, Huh YO, Keating MJ, Albitar M (1995), Multiple patterns of MDM-2 deregulation in human leukemias, implications in leukemogenesis and prognosis. Leuk Lymphoma 17, 13-18.
22. Cazzola M, Malcovati L (2005), Myelodysplastic syndromes, coping with ineffective hematopoiesis. N EngI J Med 352, 536-538.
23. Chen CY, Lin LI, Tang JL, Ko BS, Tsay W, Chou WC, Yao M, Wu SJ, Tseng MH, Tien HF (2007), RUNX1 gene mutation in primary myelodysplastic syndrome, the mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome. Br J Haematol 139, 405^14.
24. Christiansen DH, Andersen MK, Pedersen-Bjergaard J (2001), Mutations with loss of heterozygosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis. J Clin Oncol 19, 1405-1413.
25. Christiansen DH, Andersen MK, Pedersen-Bjergaard J (2003), Methy lation of p 15INK4B is common, is associated with deletion of genes on chromosome arm 7q and predicts a poor prognosis in therapy-related myelodysplasia and acute myeloid leukemia. Leukemia 17, 1813-1819.
26. Cilloni D, Saglio G (2004), WT1 as a universal marker for minimal residual disease detection and quantification in myeloid leukemias and in myelodysplastic syndrome. Ada Haematol 112, 79-84.
27. Counter CM, Gupta J, Harley CB, Leber B, Bacchetti S (1995), Telomerase activity in normal leukocytes and in hematologic malignancies. Blood 85, 2315-2320.
28. Curtiss NP, Bonifas JM, Lauchle JO, Balkman JD, Kratz CP, Emerling BM, Green ED, Le Beau MM, Shannon KM (2005), Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22. Genomics 85, 600-607.
29. de Souza Fernandez T, Menezes de Souza J, Macedo Silva ML, Tabak D, Abdelhay E (1998), Correlation of N-ras point mutations with specific chromosomal abnormalities in primary myelodysplastic syndrome. Leuk Res 22, 125-134.
30. de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E (2000), Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia. Leuk Res 24, 839-848.
31. Dewald GW, Pierre RV, Phyliky RL (1982), Three patients with structurally abnormal X chromosomes, each with Xql3 breakpoints and a history of idiopathic acquired sideroblastic anemia. Blood 59, 100-105.
32. Dohner K, Brown J, Hehmann U, Hetzel C, Stewart J, Lowther G, Scholl C, Frohling S, Cuneo A, Tsui LC, Lichter P, Scherer SW, Dohner H (1998), Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood92, 4031-4035.
33. Dohner K, Habdank M, Rucker FG, Miller S, Froling S, Scherer SW, Bullinger L, Dohner H (2006), Molecular characterization of distinct hot spot regions on chromosome 7q in myeloid leukemias. Blood 108, 2349.
34. Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR (2008), Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451, 335-339.
35. Emanuel PD (1999), Myelodysplasia and myeloproliferative disorders in childhood, an update. Br J Haematol 105, 852-863.
36. Faderl S, Kantarjian HM, Estey E, Manshouri T, Chan C Y, Rahman Elsaied A, Komblau SM, Cortes J, Thomas DA, Pierce S, Keating MJ, Estrov Z, Albitar M (2000), The prognostic significance of pl6 (INK4a)/pl4(ARF) locus deletion and MDM-2 protein expression in adult acute myelogenous leukemia. Cancer 89, 1976-1982.
37. Fairman J, Chumakov I, Chinault AC, Nowell PC, Nagarajan L (1995), Physical mapping of the minimal region of loss in 5q- chromosome. Proc Natl Acad Sci USA 92, 7406-7410.
38. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, Liso A, Vignetti M, Fazi P, Meani N, Pettirossi V, Saglio G, Mandelli F, Lo-Coco F, Pelicci PG, Mattelli MF, GIMEMA Acute Leukemia Working Party (2005), Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyo-type. N Engl J Med 352, 254-266.
39. Fenaux P, Lucidarme D, Lai JL, Bauters F (1989), Favorable cytogenetic abnormalities in secondary leukemia. Cancer 63, 2505-2508.
40. Fero ML, Ri vkin M, Tasch M, Porter P, Carow CE, Firpo E, Polyak K, Tsai LH, Broudy V, Perlmutter RM, Kaushansky K, Roberts JM (1996), A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kipl)-deficient mice. Cell 85, 733-744.
41. Fischer K, Frohling S, Scherer SW, McAllister Brown J, Scholl C, Stilgenbauer S, Tsui LC, Lichter P, Dohner H (1997), Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 89, 2036-2041.
42. French JE, Lacks GD, Trempus C, Dunnick JK, Foley J, Mahler J, Tice RR, Tennant RW (2001), Loss of heterozygosity frequency at the Trp53 locus in p53-deficient (+/-) mouse tumors is carcinogen- and tissue-dependent. Carcinogenesis 22, 99-106.
43. Gallagher A, Darley RL, Padua R (1997), The molecular basis of myelodysplastic syndromes. Haematologica 82, 191-204.
44. Garcia-Manero G, Shan J, Faderl S, Cortes J, Ravandi F, Borthakur G, Wierda WG, Pierce S, Estey E, Liu J, Huang X, Kantarjian H (2008), A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia 22, 538-543.
45. Geddes AA, Bowen DT, Jacobs A (1990), Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome. Br J Haematol 76, 194-202.
46. Godley LA, Larson RA (2002), The syndrome of therapy-related myelodysplasia and myeloid leukemia. In, Bennett JM, editor. The Myelodysplastic Syndromes, Pathobiology and Clinical Management. New York, Marcel Dekker Inc., pp 136-176.
47. Golub TR, Barker GF, Lovett M, Gilliland DG (1994), Fusion of PDGF receptor beta to a novel ETS-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77, 307-316.
48. Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP (2008), Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 111, 1534-1542.
49. Gozzetti A, Le Beau MM (2000), Fluorescence in situ hybridization, uses and limitations. Semin Hematol 37, 320-333.
50. Greenberg P, Cox C, Le Beau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Ohyashiki K, Toyama K, Aul C, Mufti G, Bennett J (1997), International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 89, 2079-2088.
51. Groupe Francais de Cytogenetique Hematologique (1991), Chronic myelomonocytic leukemia, single entity or heterogeneous disorder? A prospective multicenter study of 100 patients. Cancer Genet Cytogenet 55, 57-65.
52. Haase D, Germing U, Schanz J, Pfeilstocker M, Nosslinger T, Hildebrandt B, Kundgen A, Lubbert M, Kunzmann R, Giagounidis AA, Aul C, TriimperL, KriegerO, StauderR, Miiller TH, Wimazal F, Valent P, Fonatsch C, Steidle C (2007), New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes, evidence from a core dataset of 2124 patients. Blood 110, 4385-4395.
53. Hamblin TJ, Oscier DG (1987), The myelodysplastic syndrome, a practical guide. Hematol Oncol 5, 19-34.
54. Hasle H (2007), Myelodysplastic and myeloproliferative disorders in children. Curr Opin Pediatr 19, 1-8.
55. Hayes RB, Yin SN, Dosemeci M, Li GL, Wacholder S, Travis LB, Li CY, Rothman N, Hoover RN, Linet MS (1997), 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 89, 1065-1071.
56. Hofmann WK, de Vos S, Komor M, Hoelzer D, Wachsman W, KoefflerHP (2002), Characterization of gene expression of CD34+ cells from normal and myelodysplastic bone marrow. Blood 100, 3553-3560.
57. Horiike S, Taniwaki M, Misawa S, Abe T (1988), Chromosome abnormalities and karyotypic evolution in 83 patients with myelodysplastic syndrome and predictive value for prognosis. Cancer 62, 1129-1138.
58. Horiike S, Yokota S, Nakao M, Iwai T, Sasai Y, Kaneko H, Taniwaki M, Kashima K, Fujii H, Abe T, Misawa S (1997), Tandem duplications of the FLT3 receptor gene are associated with leukemic transformation of myelodysplasia. Leukemia 11, 1442-1446.
59. Horrigan SK, Arbieva ZH, Xie HY, Kravarusic J, Fulton NC, Naik H, Le TT, Westbrook CA (2000), Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 95, 2372-2377.
60. Jaffe ES, Harris NL, Stein H, Vardiman JW, editors (2001), World Health Organization Classification ofTumours. Pathology and Genetics ofTumours of Haematopoietic andLymphoid Tissues. Lyon, IARC Press.
61. Jaju RJ, Boultwood J, Oliver FJ, Kostrzewa M, Fidler C, Parker N, McPherson JD, Morris SW, Muller U, Wainscoat JS, Kearney L (1998), Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. Genes Chromosomes Cancer 22, 251-256.
62. Jary L, Mossafa H, Fourcade C, Genet P, Pulik M, Flandrin G (1997), The 17p- syndrome, a distinct myelodysplastic syndrome entity? Leuk Lymphoma 25, 163-168
63. Johansson B, Mertens F, Mitelman F (1993), Cytogenetic deletion maps of hematologic neoplasms, circumstantial evidence for tumor suppressor loci. Genes Chromosomes Cancer 8, 205-218.
64. Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, Cotter FE (1996), Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood 87, 3579-3586.
65. Joslin JM, Fernald AA, Tennant TR, Davis EM, Kogan SC, Anastasi J, Crispino JD, Le Beau MM (2007), Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders. Blood 110, 719-726.
66. Jotterand M, Parlier V (1996), Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes. Leuk Lymphoma 23, 253-266.
67. Kardos G, Baumann I, Passmore SJ, Locatelli F, Hasle H, Schultz KR, Stary J, Schmitt-Graeff A, Fischer A, Harbott J, Chessells JM, Hann I, Fenu S, Rajnoldi AC, Kerndru G, Van Wering E, Rogge T, Nollke P, Niemeyer CM (2003), Refractory anemia in childhood, a retrospective analysis of 67 patients with particular reference to monosomy 7. Blood 102, 1997-2003.
68. Kearney L (1999), The impact of the new fish technologies on the cytogenetics of haematological malignancies. Br J Haematol 104, 648-658.
69. Kelly LM, Gilliland DG (2002), Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet 3, 179-198.
70. Kere J (1989), Chromosome 7 long arm deletion breakpoints in preleukemia, mapping by pulsed field gel electrophoresis. Nucleic Acids Res 17, 1511-1520.
71. Kita-Sasai Y, Horiike S, Misawa S, Kaneko H, Kobayashi M, Nakao M, Nakagawa H, Fujii H, Taniwaki M (2001), International prognostic scoring system and TP53 mutations are independent prognostic indicators for patients with myelodysplastic syndrome. Br J Haematol 115, 309-312.
72. Kiyoi H, Towatari M, Yokota S, Hamaguchi M, Ohno R, Saito H, Naoe T (1998), Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product. Leukemia 12, 1333-1337.
73. Knudson AG Jr (1971), Mutation and cancer, statistical study of retinoblastoma. Proc Natl Acad Sci USA 68, 820-823.
74. Kratz CP, Emerling BM, Donovan S, Laig-Webster M, Taylor BR, Thompson P, Jensen S, Banerjee A, Bonifas J, Makalowski W, Green ED, Le Beau MM, Shannon KM (2001), Candidate gene isolation and comparative analysis of a commonly deleted segment of 7q22 implicated in myeloid malignancies. Genomics 77, 171-180.
75. Kulkami S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC (2000), Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res 60, 3592-3598.
76. Kurtin PJ, Dewald GW, Shields DJ, Hanson CA (1996), Hematologic disorders associated with deletions of chromosome 20q, a clinicopathologic study of 107 patients. Am J Clin Pathol 106, 680-688.
77. Kurzrock R, Kantarjian HM, Cortes JE, Singhania N, Thomas DA, Wilson EF, Wright JJ, Freireich EJ, Talpaz M, Sebti SM (2003), Farnesyltransferase inhibitor Rl 15777 in tnyelodysplastic syndrome, clinical and biologic activities in the phase I setting. Blood 102, 4527^534.
78. Kussick SJ, Fromm JR, Rossini A, Li Y, Chang A, Norwood TH, Wood BL (2005), Four-color flow cytometry shows strong concordance with bone marrow morphology and cytogenetics in the evaluation for myelodysplasia. Am J Clin Pathol 124, 170-181.
79. Lai JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Lepelley P, Wattel E, Fenaux P (1995), Myelodysplastic syndromes and acute myeloid leukemia with I7p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of P53 mutations. Leukemia 9, 370-381.
80. Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R 3rd, Zhao N, Pamintuan L, Till BG, Larson RA, Qian Z, Le Beau MM (2001), Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q3l in malignant myeloid diseases with a del(5q). Genomics 71, 235-245.
81. Larson RA, LeBeau MM, Vardiman JW, Rowley JD (1996), Myeloid leukemia after hematotoxins. Environ Health Perspect 104, 1303-1307.
82. Le Beau MM, Albain KS, Larson RA, Vardiman JW, Davis EM, Blough RR, Golomb HM, Rowley JD (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, 325-345.
83. Le Beau MM, Espinosa R 3rd, Neuman WL, Stock W, Roulston D, Larson RA, Keinanen M, Westbrook CA (1993), Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc Natl Acad Sci USA 90, 5484-5488.
84. Le Beau MM, Espinosa R 3rd, Davis EM, Eisenbart JD, Larson RA, Green ED (1996), Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood 88, 1930-1935.
85. Lepelley R, Soenen V, Preudhomme C, Merlat A, Cosson A, Fenaux P (1995), bcl-2 expression in myelodysplastic syndromes and its correlation with hematological features, p53 mutations and prognosis. Leukemia 9, 726-730.
86. Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C (2005), CEBPA point mutations in hematological malignancies. Leukemia 19, 329-334.
87. Lewis S, Abrahamson G, Boultwood J, Fidler C, Potter A, Wainscoat JS (1996), Molecular characterization of the 7q deletion in myeloid disorders. Br J Haematol 93, 75-80.
88. Li B, Yang J, Andrews C, Chen YX, Toofanfard P, Huang RW, Horvath E, Chopra H, Raza A, Preisler HD (2000), Telomerase activity in preleukemia and acute myelogenous leukemia. Leuk Lymphoma 36, 579-587.
89. Liang H, Fairman J, Claxton DF, Nowell PC, Green ED, Nagarajan L (1998), Molecular anatomy of chromosome 7q deletions in myeloid neoplasms, evidence for multiple critical loci. Proc Natl AcadSci USA 95, 3781-3785.
90. List A, Dewald G, Bennett J, Giagounidis A, Raza A, Feldman E, Powell B, Greenberg P, Thomas D, Stone R, Reeder C, Wride K, Patin J, Schmidt M, Zeldis J, Knight R, Myelodysplastic Syndrome-003 Study Investigators (2006), Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med 355, 1456-1465.
91. Liu TX, Becker MW, Jelinek J, Wu WS, Deng M, Mikhalkevich N, Hsu K, Bloomfield CD, Stone RM, DeAngelo DJ, Galinski IA, Issa JP, Clarke MF, Look AT (2007), Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nat Med 13, 78-83.
92. Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM (2004), Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood 103, 2325-2331.
93. Look AT (1997), Oncogenic transcription factors in the human acute leukemias. Science 278, 1059-1064.
94. Luna-Fineman S, Shannon KM, Lange BJ (1995), Childhood monosomy 7, epidemiology, biology, and mechanistic implications. Blood 85, 1985-1999.
95. Ma X, Does M, Raza A, Mayne ST (2007), Myelodysplastic syndromes, incidence and survival in the United States. Cancer 109, 1536-t542.
96. MacGrogan D, Kalakonda N, Alvarez S, Scandura JM, Boccuni P, Johansson B, Nimer SD (2004), Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells. Genes Chromosomes Cancer 41, 203-213.
97. Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ, Dunbar CE (2001), Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. Blood 98, 2518-2525.
98. Malcovati L, Germing U, Kuendgen A, Delia Porta MG, Pascutto C, Invernizzi R, Giagounidis A, Hildebrandt B, Bernasconi P, Knipp S, Strupp C, Lazzarino M, Aul C, Cazzola M (2007), Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol 25, 3503-3510.
99. Martinelli G, Ottaviani E, Buonamici S, Isidori A, Borsaru G, Visani G, Piccaluga PP, Malagola M, Testoni N, Rondoni M, Nucifora G, Tura S, Baccarani M (2003), Association of 3q21 q26 syndrome with different RPN1/EV11 fusion transcripts. Haematologica 88, 1221-1228.
100. Martinez-Climent JA, Garcia-Conde J (1999), Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes. J Pediatr Hematol Oncol 21, 91-102.
101. Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, Milone G, Minelli A, Bernadi F, Lo Curto F, Pasquali F (2002), Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer 33, 93-97.
102. Mastrangelo R,Tornesello A, Mastrangelo S, Zollino M, Neri G (1995), Constitution trisomy 8 mosaicism evolving to primary myelodysplastic syndrome, a new subset of biologically related patients? Am J Hematol 48, 67-68
103. Matsuda A, Yagasaki F, Jinnai I, Kusumoto S, Murohasi I, Bessho M, Hirashima K (1998), Trisomy 8 may not be related to the pathogenesis of myelodysplastic syndromes. Eur J Hematol 60, 260-261.
104. McCarthy CJ, Sheldon S, Ross CW, McCune WJ (1998), Cytogenetic abnormalities and therapy-related myelodysplastic syndromes in rheumatic disease. Arthritis Rheum 41, 1493-1496.
105. Merlat A, Lai JL, Sterkers Y, Demory JL, Bauters F, Preudhomme C, Fenaux P (1999), Therapy-related myelodysplastic syndrome and acute myeloid leukemia with 17p deletion. A report on 25 cases. Leukemia 13, 250-257.
106. Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS (2002), In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia, implications for mechanisms of pathogenesis. Blood 99, 1364-1372.
107. Misawa S, Horiike S (1996), TP53 mutations in myelodysplastic syndrome. Leuk Lymphoma 23, 417-22.
108. Mitelman F, Johansson B, Mertens F, editors (2008), Mitelman Database of Chromosome Aberrations in Cancer. http,//cgap.nci.nih.gov/Chromosomes/Mitelman.
109. Mohamedali A, Gaken J, Twine NA, Ingram W, Westwood N, Lea NC, Hayden J, Donaldson N, Aul C, Gattermann N, Giagounidis A, Germing U, List AF, Mufti GJ (2007), Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes. Blood 110, 3365-3373.
110. Morel P, Hebbar M, Lai JL, Duhamcl A, Preudhomme C, Wattel E, Bautcrs F, Fenaux P (1993), 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 7, 1315-1323.
111. Nakao M, Horiike S, Fukushima-Nakase Y, Nishimura M, Fujita Y, Taniwaki M, Okuda T (2004), Novel loss-of-function mutations of the hacmalopoiesis-related transcription factor, acute myeloid leukaemia 1/Runt-related transcription factor 1. detected in acute myeloblastic leukaemia and myelodysplastic syndrome. Br J Haematol 125, 709-719.
112. Neubauer A, Greenberg P, Negrin R, Ginzton N, Liu E (1994), Mutations in the ras proto-oncogenes in patients with myelodysplastic syndromes. Leukemia 8, 638-641.
113. Niimi H, Harada H, Harada Y, Ding Y, Imagawa J, Inaba T, Kyo T, Kimura A, (2006), Hyperacuvation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations. Leukemia 20, 635-644.
114. Nilsson L, Eden P, Olsson E, Mansson R, Astrand-Grundstrom 1, Strombeck B, Theilgaard-Monch K, Anderson K, Hast R, Hellstrom-Lindberg E, Samuelsson J, Bergh G, Nerlov C, Johansson B, Sigvardsson M, Borg A, Jacobsen SE (2007), The molecular signature of MDS stem cells supports a stem-cell origin of 5q myelodysplastic syndromes. Blood 110, 3005-3014.
115. Norrback KF, Roos G (1997), Telomeres and telomerase in normal and malignant haematopoietic cells. Eur J Cancer 33, 774-780.
116. Nucifora G, Begy CR, Kobayashi H, Roulston D, Claxton D, Pedersen-Bjergaard J, Parganas E, Ihle JN, Rowley JD (1994), Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations. Proc Natl AcadSci USA 91, 4004-4008.
117. Ogata K, Tamura H (2000), Thrombopoietin and myelodysplastic syndromes. Int J Hematol 72, 173-177.
118. 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 (1998), RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias, a 10-year follow-up. Leukemia 12, 887-892.
119. Parker JE, Mufti GJ, Rassool F, Mijovic A, Devereux S, Pagliuca A (2000), The role of apoptosis, proliferation, and the bcl-2-related proteins in the myelodysplastic syndromes and acute myeloid leukemia secondary to MDS. Blood 96, 3932-3938.
120. Paulsson K, Sail T, Fioretos T, Mitelman F, Johansson B (2001), The incidence of trisomy 8 as a sole chromosomal aberration in myeloid malignacies varies in relation to gender, age, prior iatrogenic genotoxic exposure, and morphology. Cancer Genet Cytogenet 130, 160-165.
121. Paulsson K, Heidenblad M, Strombeck B, Staaf J, Jonsson G, Borg A, Fioretos T, Johansson B (2006), High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MODS cases with trisomy 8 as die sole cytogenetic aberration. Leukemia 20, 840-846.
122. Pedersen-Bjergaard J, Andersen MK, Christiansen DH (2000), Therapy-related acute myeloid leukemia and myelodysplasia after high-dose chemotherapy and autologous stem cell transplantation. Blood 95, 3273-3279.
123. Pedersen-Bjergaard J, Andersen MK, Christiansen DH, Nerlov C (2002), Genetic pathways in therapy-related myelodysplasia and acute myeloid leukemia. Blood 99, 1909-1912.
124. Pedersen-Bjergaard J, Andersen MT, Andersen MK (2007), Genetic pathways in the pathogenesis of therapy-related myelodysplasia and acute myeloid leukemia. Hematology 2007, 392-397.
125. Pekarsky Y. Rynditch A, Wieser R, Fonatsch C, Gardiner K (1997), Activation of a novel gene in 3q21 and identification of intergenic fusion transcripts with ecotropic viral insertion site I in leukemia. Cancer Res 57, 3914-3919.
126. Pellagatti A, Cazzola M, Giagounidis AA, Malcovati L, Porta MG, Killick S, Campbell LJ, Wang L, Langford CF, Fidler C, Oscier D, Aul C, Wainscoat JS, Boultwood J (2006), Gene expression profiles of CD34 + cells in myelodysplastic syndromes, involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood 108, 337-345.
127. Pierre RV, Hoagland HC (1972), Age-associated aneuploidy, loss of Y chromosome from human bone marrow cells with aging. Cancer 30, 889-894.
128. Qian Z, Fernald AA, Godley LA, Larson RA, Le Beau MM (2002), Expression profiling of CD34+ hematopoietic stem/progenitor cells reveals distinct subtypes of therapy-related acute myeloid leukemia. Proc Nat I Acad Sci USA 99, 14925-14930.
129. Raynaud SD, Baens M, Grosgeorge J, Rodgers K, Reid CD, Dainton M, Dyer M, Fuzibet JG, Gratecos N, Taillan B, Ayraud N, Marynen P (1996), Fluorescence in situ hybridization analysis of t(3;12) (q26;p!3), a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes. Blood 88, 682-689.
130. Ridge SA, Worwood M, Oscier D, Jacobs A, Padua RA (1990), FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc NatI Acad Sci USA 87, 1377-1380.
131. Rosenbauer F, Wagner K, Kutok JL, Iwasaki H, Le Beau MM, Okuno Y, Akashi K, Fiering S, Tenen DG (2004), Acute myeloid leukemia induced by graded reduction of a lineage-specific transcription factor, PU. 1. Nat Genet 36, 624-630.
132. Ross TS, Bernard OA, Berger R, Gilliland DG (1998), Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;ql 1.2). Blood 91, 4419-4426.
133. Rowley JD (1999), The role of chromosome translocations in leukemogenesis. Semin Hematol 36, 59-72.
134. Rowley JD (2000), Molecular genetics in acute leukemia. Leukemia 14, 513-517.
135. Rowley JD, Olney HJ (2002), International workshop on the relationship of prior therapy to balanced chromosome aberrations in therapy-related myelodysplastic syndromes and acute leukemia, overview report. Genes Chromosomes Cancer 33, 331-345.
136. 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 (1997), All patients with the t(H;16)(q23;pl3.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood 90, 535-541.
137. Rubin CM, Larson RA, Bitter MA, Carrino JJ, Le Beau MM, Diaz MO, Rowley JD (1987), Association of a chromosomal 3;21 translocation with the blast phase of chronic myelogenous leukemia. Blood 70, 1338-1342.
138. Rubin CM, Larson RA, Anastasi J, Winter JN, Thangavelu M, Vardiman JW, Rowley JD, Le Beau MM (1990), t(3;21)(q26;q22), a recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia. Blood 76, 2594-2598.
139. Saunthararajah Y, Nakamura R, Nam JM, Robyn J, Loberiza F, Maciejewski JP, Simonis T, Molldrem J, Young NS, Barrett AJ (2002), HLA-DR15 (DR2) is overrepresented in myelodysplastic syndrome and aplastic anemia and predicts a response to immunosuppression in myelodysplastic syndrome. Blood 100, 1570-1574.
140. Seeker-Walker LM (1998), General Report on the European Union Concerted Action Workshop on 1 Iq23, London, UK, May 1997. Leukemia 12, 776-778.
141. Shannon KM, O'Connell P, Martin GA, Paderanga D, Olson K, Dinndorf R McCormick F (1994), Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330, 597-601.
142. Shih LY, Huang CF, Lin TL, Wu JH, Wang PN, Dunn P, Kuo MC, Tang TC (2005), Heterogeneous patterns of CEBPalpha mutation status in the progression of myelodysplastic syndrome and chronic myelomonocytic leukemia to acute myelogenous leukemia. Clin Cancer Res 11, 1821-1826.
143. Shiseki M, Kitagawa Y, Wang YH, Yoshinaga K, Kondo T, Kuroiwa H, Okada M, Mori N, Motoji T (2007), Lack of nucleophosmin mutation in patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities. Leuk Lymphoma 48, 2141-2144.
144. Side LE, Curtiss NP, Teel K, Kratz C, Wang PW, Larson RA, Le Beau MM, Shannon KM (2004), RAS, FLT3, and TP53 mutations in therapy-related myeloid malignancies with abnormalities of chromosomes 5 and 7. Genes Chromosomes Cancer 39, 217-223.
145. Siitonen T, Savolainen ER, Koistinen P (1994), Expression of the c-kit proto-oncogene in myelopro-liferative disorders and myelodysplastic syndromes. Leukemia 8, 631-637.
146. Sitailo S, Sood R, Barton K, Nucifora G (1999), Forced expression of the leukemia-associated gene EVI1 in ES cells, a model for myeloid leukemia with 3q26 rearrangements. Leukemia 13, 1639-1645.
147. Smadja N, Krulik M, Hagemeijer A, van der Plas DC, Gonzalez Canali G, de Gramont A (1989), Cytogenetic and molecular studies of the Philadelphia translocation t(9;22) observed in a patient with myelodysplastic syndrome. Leukemia 3, 236-238.
148. 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, Ri'os R, Martinez Climent JA, Vallespi T, Florensa L, Woessner S (2000), Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Br J Haematol 108, 346-356.
149. Sole F, Luno E, Sanzo C, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Cigudosa JC, Milla F, Ribera JM, Bureo E, Marquez ML, Arranz E, Florensa L (2005), Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica 90, 1168-1178.
150. 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, Gewirta AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG (1999), Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23, 166-175.
151. Sood R, Talwar-Trikha A, Chakrabarti SR, Nucifora G (1999), MDS1/EV11 enhances TGF-betal signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AMLl/MDS 1/EV11, product of the t(3;21), abrogates growth-inhibition in response to TGF-betal. Leukemia 13, 348-357.
152. Spitzer G, Verma DS, Dicke KA, Smith T, McCredie KB (1979), Subgroups of oligoleukemia as identified by in vitro agar culture. Leuk Res 3, 29-39.
153. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland DG, Tefferi A (2005), The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloproliferative disorders and myelodysplastic syndromes. Blood 106, 1207-1209.
154. Strom SS, Velez-Bravo V, Estey EH (2008), Epidemiology of myelodysplastic syndromes. Semin Hemawl 45, 8-13.
155. Tidow N, Kasper B, Welte K (1998), Clinical implications of G-CSF receptor mutations. Crit Rev Oncol Hemalol 28, 1-6.
156. Tien HF, Wang CH, Chuang SM, Chow JM, Lee FY, Liu MC, Chen YC, Shen MC, Lin DT, Lin KH (1994), Cytogenetic studies, ras mutation, and clinical characteristics in primary myelodysplastic syndrome. A study on 68 Chinese patients in Taiwan. Cancer Genet Cytogenet 74, 40-49.
157. Tosi S, Scherer SW, Giudici G, Czepulkowski B, Biondi A, Kearney L (1999), Delineation of multiple deleted regions in 7q in myeloid disorders. Genes Chromosomes Cancer 25, 384-392.
158. Toyama K, Ohyashiki K, Yoshida Y, Abe T, Asano S, Hirai H, Hirashima K, Hotta T, Kuramoto A, Kuriya S,et al (1993), Clinical and cytogenetic findings of myelodysplastic syndromes showing hypocellular bone marrow or minimal dysplasia, in comparison with typical myelodysplastic syndromes, lnl J Hematol 58, 53-61
159. United Kingdom Cancer Cytogenetics Group (UKCCG) (1992), Loss of the Y chromosome from normal and neoplastic bone marrows. Genes Chromosomes Cancer 5, 83-88.
160. Vallespi T, Imbert M, Mecucci C, Preudhomme C, Fenaux P (1998), Diagnosis, classification, and cytogenetics of myelodysplastic syndromes. Haematologica 83, 258-275.
161. van de Loosdrecht AA, Westers TM, Westra AH, Drager AM, van der Velden VH, Ossenkoppele GJ (2008), identification of distinct prognostic subgroups in low- and intermediate-1-risk myelodysplastic syndromes by flow cytometry. Blood 111, 1067-1077.
162. Van den Berghe H, Michaux L (1997), 5q-, twenty-five years later, a synopsis. Cancer Genet Cytogenet 94, 1-7.
163. Vardiman JW (2003), Myelodysplastic syndromes, chronic myeloproliferative diseases, and myelo- dysplastic/myeloproliferative diseases. Semin Diagn Pathol 20, 154-179.
164. Venkatachalam S, Shi YP, Jones SN, Vogel H, Bradley A, Pinkel D, Donehower LA (1998), Retention of wild-type p53 in tumors from p53 heterozygous mice, reduction of p53 dosage can promote cancer formation. EMBO J 17, 4657^667.
165. Walker J, Flower D, Rigley K (2002), Microarrays in hematology. Curr Opin Hemalol 9, 23-29.
166. Wang P, Spielberger RT, Thangavelu M, Zhao N, Davis EM, lannantuoni K, Larson RA, Le Beau MM (1997), dic(5;17), a recurring abnormality in malignant myeloid disorders associated with mutations of TP53. Genes Chromosomes Cancer 20, 282-291.
167. Wang PW, Eisenbart JD, Espinosa R 3rd, Davis EM, Larson RA, Le Beau MM (2000), 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 67, 28-39.
168. Wattel E, Lai JL, Hebbar M, Preudhomme C, Grahek D, Morel P, Bauters F, Fenaux P (1993), De now myelodysplastic syndrome (MDS) with deletion of the long arm of chromosome 20, a subtype of MDS with distinct hematological and prognostic features? Leuk Res 17, 921-926
169. Weimar IS, Bourhis JH, De Gast GC, Gerritsen WR (1994), Clonality in myelodysplastic syndromes. Leuk Lymphoma 13, 215-221.
170. Wells DA, Benesch M, Loken MR, Vallejo C, Myerson D, Leisenring WM, Deeg HJ (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.
171. West RR, Stafford DA, White AD, Bowen DT, Padua RA (2000), Cytogenetic abnormalities in the myelodysplastic syndromes and occupational or environmental exposure. Blood 95, 2093-2097.
172. Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, Van Dyke DL (2000), Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer 27, 11-16.
173. Xu D, Gruber A, Peterson C, Pisa P (1998), Telomerase activity and the expression of telomerase components in acute myelogenous leukaemia. Br J Haematol 102, 1367-1375.
174. Zhang Y, Rowley JD (2006), Chromatin structural elements and chromosomal translocations in leukemia. DNA Repair 5, 1282-1297.
175. Zhao N, Stoffel A, Wang PW, Eisenbart JD, Espinosa R 3rd, Larson RA, Le Beau MM (1997), 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 NatlAcadSci USA 94, 6948-6953.
176. Zipperer E, Wulfert M, Germing U, Haas R, Gattermann N (2008), MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 x 10(9)/L. Ann Hematol 87, 413-15.
177. Zöchbauer S, Gsur A, Götzl M, Wallner J, Lechner K, Pirker R (1994), MDR1 gene expression in myelodysplastic syndrome and in acute myeloid leukemia evolving from myelodysplastic syndrome. Anticancer Res 14, 1293-1295.