Biologic and clinical relevance of cytogenetic analysis in primary myelodysplastic syndromes;Place de la cytogénétique dans la prise en charge des syndromes myélodysplasiques primaires

Pathologie Biologie

Volumn 51, Issue 6, 2003, Pages 346-355

  Raynaud, S D ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

Cytogenetic; IPSS index; MDS

Indexed keywords

CHROMOSOMAL LOCALIZATION; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CYTOGENETICS; DISEASE CLASSIFICATION; EVALUATION; GENE DELETION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; HUMAN; INTERNATIONAL COOPERATION; MYELODYSPLASTIC SYNDROME; PHENOTYPE; PROGNOSIS; RECURRENT DISEASE; REVIEW; RISK ASSESSMENT; SCORING SYSTEM;

EID: 0041358909     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0369-8114(03)00111-1     Document Type: Article

References (100)

1. Aul C, Gatterman N, Schneider W. Epidemiological and etiological aspects of myelodysplastic syndromes. Leuk Lymph 1995;16:247-62.
2. Williamson PJ, Kruger AR, Reynolds PJ, Hamblin TJ, Oscier DG. Establishing the incidence of myelodysplstic syndrome. Br J Haematol 1994;87:743-5.
3. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR, et al. The French-American-British (FAB) Co-operative Group Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982;51:189-99.
4. Vardiman JW, Lee Harris N, Brunning RD. The world health organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-302.
5. Fourth International Workshop on Chromosomes in Leukemia. Correlation of karyotype and occupational exposure to potential mutagenic/carcinogenic agents in acute non-lymphocytic leukemia. Cancer Genet Cytogenet 1984;11:326.
6. Third MIC, Cooperative Study Group. Morphologic, immunologic, and cytogenetic (MIC) working classification of the primary myelodysplastic syndromes and therapy-related myelodysplasias and leukemias. Cancer Genet Cytogenet 1988;32:1.
7. Fenaux P, Morel P, Laï JL. Cytogenetics of myelodysplastic syndromes. Semin Hematol 1996;33:127-38.
8. Jacobs RA, Combleet M, Vardiman J, Larson R, Le Beau MM, Rowley JD. Prognostic implications of morphology and karyotype in primary myelodysplastic syndromes. Blood 1765;67:71-2 (1986).
9. Yunis JJ, Lobell M, Arnesen MA, Oken MM, Mayer MG, Rydell RE, et al. Refined chromosome study helps define prognostic subgroups in most patients with primary myelodysplastic syndrome and acute myelogenous leukemia. Br J Haematol 1988;68:189-94.
10. Sanz GF, Sanz MA, Vallespi T, Canizo M. 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.
11. Aul C, Gatterman N, Heyll A, Germing U, Derigs G, Schneider W. Primary myelodysplastic syndromes: Analysis of prognostic factors in 235 patients and proposals for an improved scoring system. Leukemia 1992;6:52-9.
12. Morel P, Hebbar M, Lai JL, Duhamel A. 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 1993;7:1315-23.
13. Toyama K, Ohyashiki K, Yoshida Y, Abe T. Clinical implications of chromosomal abnormalities in 401 patients with MDS: A multicentric study in Japan. Leukemia 1993;7:499-508.
14. Greenberg P, Cox C, LeBeau M, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997;89:2079-88.
15. Van den Berghe H, Cassiman JJ, David G, Fryns JP, Michaux JL, Sokal G. Distinct haematological disorder with deletion of long arm of n, 5 chromosome. Nature 1974;251:437-8.
16. Boultwood J, Lewis S, Wainscoat JS. The 5q-syndrome. Blood 1994;84:3253-60.
17. Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G. The 5q-anomaly. Cancer Genet Cytogenet 1985;17:189-255.
18. Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa 3rd, et al. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). Genomics 2001;71:235-45.
19. Boultwood J, Strickson AJ, Jabs EW, Cheng JF, Fidler C, Wainscoat JS. Physical mapping of the human ATXI homologue (HAH1) to the critical region of the 5q-syndrome within 5q32, and immediately adjacent to the SPARC gene. Hum Genet 2000;106:127-9.
20. Horrigan SK, Arbieva ZH, Xie HY, Kravarusic J, Fulton NC, Naik H, et al. Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 2000;95:2372-7.
21. Boultwood J, Fidler C, Watkins F, Gama S, Kearney L, Tosi S, et al. Narrowing and genomic annotation of the commonly deleted region of the 5q-syndrome. Blood 2002;99:4638-41.
22. Zhao N, Stoffel A, Wang PW, Eisenbart JD, Espinosa 3rd, Larson RA, et al. 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(13):6948-53.
23. Grimwade DJ, Stephenson J, De Silva C, Dalton RG, Multi GJ. Familial MDS with 5q-abnormality. Br J Haematol 1993;84:536-8.
24. Mitelman F. Catalog of Chromosomes Aberrations in Cancer. New York: Wiley-Liss,; 1995.
25. Davis MP, Dewald GW, Pierre RV, Hoagland HC. Hematologic manifestations associated with deletions of the long arm of chromosome 20. Cancer Genet Cytogenet 1984;12:63-71.
26. White NJ, Nacjeva E, Asimakopoulos FA, Bloxham D, Paul B, Green AR. Deletion of chromosome 20q in myelodysplasia can occur in a multipotent precursor of both myeloid cells and B cells. Blood 1994;83:2809-16.
27. Asimakopoulos FA, Holloway TL, Nacheva EP, Scott MA, Fenaux P, Green AR. Detection of chromosome 20q deletions in bone marrow metaphases but not in peripheral blood granulocytes in patients with myeloproliferative disorders or myelodysplastic syndromes. Blood 1996;87:1561-70.
28. Roulston D, Espinosa III R, Stoffel M, Bell GI, Le Beau MM. Molecular genetics of myeloid leukemia: identification of the commonly deleted segment of chromosome 20. Blood 1993;82:3424-9.
29. Asimakopoulos FA, White NJ, Nacheva EP, Green AR. Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. Blood 1994;84:3086-94.
30. Stoffel M, Le Beau MM, Espinosa 3rd R, Bohlander SF, Le Paslier D, Cohen D, et al. A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MOPDYI, and a myeloid leukemia related gene. Proc Natl Acad Sci USA 1996;93:3937-41.
31. McGrogan D, Alvarez S, DeBlasio T, Jhanwar SC, Nimer SD. Identification of candidate genes on chromosome band 20q12 by physical mapping of translocation breakpoints found in myeloid leukemia cell lines. Oncogene 2001;20:4150-60.
32. Wattel E, Lai JL, Hebbar M, Preudhomme C. De novo myelodysplastic syndrome with deletion of the long arm of chromosome 20: A subtype of MDS with distinct hematological and prognostic features? Leuk Res 1993;17:921-6.
33. Campbell LJ, Garson OM. The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. Leukemia 1994;8:67-71.
34. United Kingdom Cancer Cytogenetics Group (UKCCG). Loss of the Y chromosome from normal and neoplastic bone marrows. Genes Chromosomes Cancer 1992;5:83-8.
35. Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, et al. Clinical significance of Y chromosome loss in hematologic disease. Genes Chrom Cancer 2000;27:11-6.
36. Garcia-Isidoro M, Tabernero MD, Najera ML, Garcia JL, Hernandez JM, Duran A, et al. Clinical and biological characteristics of myelodysplastic syndromes with nullisomy Y by FISH. Haematologica 1997;82:537-41.
37. Pedersen B. MDS and AML with trisomy 8 as the sole chromosome aberration show different sex ratios and prognostic profiles: a study of 115 published cases. Am J Haematol 1997;56:224-9.
38. Saitoh K, Miura I, Takahashi N, Miura AB. Fluorescence in situ hybridization of progenitor cells obtained by fluorescence-activated cell sorting for the detection of cells affected by chromosome abnormality trisomy 8 in patients with myelodysplastic syndromes. Blood 1998;92:2886-92.
39. Matsuda A, Yagasaki F, Jinnai I, Kusumato S, Murohashi I, Bessho M, et al. Trisomy 8 may not be related to the pathogenesis of myelodysplastic syndromes: disappearance of trisomy 8 in a patient with refractory anemia without haematological improvement. Eur J Haematol 1998;60:260-1.
40. Iwabuchi A, Ohyashiki K, Ohyashiki JH, et al. Trisomy of the chromosome 8 in myelodysplastic syndrome, Significance of the fluctuating trisomy 8 population. Cancer Genet Cytogenet 1992;62:70-441.
41. Virtaneva K, Wright FA, Tanner SM, Yuan B, Lemon WJ, Caligiuri MA, et al. Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. PNAS 2001;98:1124-9.
42. Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, et al. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chrom Cancer 1996;17:94-101.
43. Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, et al. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer 2002;33:93-7.
44. Solé F, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Luno E, et al. Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Br J Haemat 2000;108:346-56.
45. La Starza R, Matteucci C, Crescenzi B, Criel A, Selleslag D, Martelli MF, et al. Trisomy 6 is the hallmark of a dysplastic clone in one marrow aplasia. Cancer Genet Cytogenet 1998;105:55-9.
46. Michaux L, Dierlamm J, Zeller W, Deneys V, Wlodarska I, Scheiff JM, et al. Trisomy 13 in myeloid malignancies: clinical, morphologic and immunologic correlations and characterization by combined immunophenotyping and interphase fluorescence in situ hybridization (FISH). Blood 1996;88:372a.
47. Mugneret F, dastugue N, Favre B, Sidaner I, Salles B, Huguet-Rigal F, et al. der(16)t(1;16)(q11;q11) in myelodysplastic syndromes: a new non random abnormality characterized by cytogenetic and fluorescence in situ hybridization studies. Br J Haemat 1995;90:119-24.
48. Streubel B, Sauerland C, Heil G, Freund M, Bartels H, Lengfelder E, et al. Correlation of cytogenetic, molecular genetic and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12. Br J Haematolo 1998;100:521-33.
49. Srivastava A, Boswell HS, Heerema NA, Nahreini P, Lauer RC, Antony AC, et al. KRAS2 oncogene overexpression in myelodysplastic syndrome with translocation 5;12. Cancer Genet Cytogenet 1988;35:61-71.
50. Lerza R, Castello G, Sessarego M, Cavallini D, Pannacciulli I. Myelodysplastic syndrome associated with increased bone marrow fibrosis and translocation t(5;12)(q33;p12-3). Br J Haematol 1992;82:476-7.
51. Wessels JW, Fibbe WE, Van der Keur D, Landegent JE, Van der Plas DC, den Ottolander GJ, et al. T(5;12)(q31;p12): a clinical entity with features of both myeloid leukemia and chronic myelomonocytic leukemia. Cancer Genet Cytogenet 1993;65:7-11.
52. 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;12) chromosomal translocation. Cell 1994;77:307-16.
53. Wlodarska I, Mecucci C, Marynen P, Guo C, Franckx D, La Starza R, et al. TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) or its variant t(10;12)(q24; p13). Blood 1995;85:2848-52.
54. Raynaud SD, Baens M, Grosgeorge J, Rodgers J, Reid RDL, Dainton M, et al. Fluorescence in situ hybridization analysis of t(3;12) (q26;p13): A recurring translocation involving the TEL gene (ETV6) in myelodysplastic syndromes. Blood 1996;88:682-9.
55. Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D, et al. FISH characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies. Blood 1998;91:1399-406.
56. Wlodarska I, Mecucci C, Baens M, Marynen P, Van den Berghe H. ETV6 gene rearrangements in hematopoietic malignant disorders. Leuk Lymph 1996;23:287-95.
57. Sato Y, Suto Y, Pietenpol J, Golub TR, Gilliland DG, Davis EM, et al. TEL and KIP1 define the smallest region of deletions on 12p13 in hematologic malignancies. Blood 1995;86:1525-33.
58. Hoglund M, Johansson B, Pedersen-Bjergaard J, Marynen P, Mitelman F. Molecular characterization of 12p abnormalities in hematologic malignancies: Deletion of KIP1, rearrangement of TEL, and amplification of CCND2. Blood 1996;87:324-30.
59. Mecucci C, Van Orshoven A, Vermaelen K, Michaux JL, Tricot G, Louwagie A, et al. 11q- syndrome is associated with abnormal iron stores in myelodysplastic syndromes. Cancer Genet Cytogenet 1987;27:39-44.
60. La Starza R, Wlodarska I, Aventin A, Falzetti D, Crescenzi B, Martelli MF, et al. Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies. Blood 1998;91:231-7.
61. Preudhomme C, Vachee A, Lepelley P, Vanrumbeke M, Zandecki M, Quesnel B, et al. Inactivation of the retinoblastoma gene appears to be very uncommon in myelodysplastic syndromes. Br J Haematol 1994;87:61-7.
62. Taki T, Sako M, Tsuchida M, Hayashi Y. The t(11;16)(q23;p13) translocation in myelodysplastic syndromes fuses the MLL gene to the CBP gene. Blood 1997;89:3945-50.
63. Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, et al. The inv(11)(p15q22) chromosome translocation of de novo and therapy related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX 10. Blood 1997;89:3936-44.
64. Raimondi SC, Dube ID, Valentine MB, Mirro Jr. J, Watt HJ, Larson RA, et al. Clinico-pathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia. Leukemia 1989;3:42-7.
65. Yoneda-Kato N, Look AT, Kirstein MN, Valentine MB, Raimondi SC, Cohen KJ, et al. The (3;5)(q25;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. Oncogene 1996;12:265-75.
66. Nucifora G. The EVII gene in myeloid leukemia. Leukemia 1997;11:2022-31.
67. Legros L, Raynaud S. MDS1/EVI-1, un membre de la famille des gènes codant pour des protéines à domaine PR impliqués dans la régulation de la tumorigénicité. Hématologie 2002;8:121-8.
68. Fenaux P, Dreyfus F. Les syndromes myélodysplasiques. John Libbey Eurotext 2000.
69. Lai JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Lepelley P, et al. Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion, An entity characterized by specific dysgranulopoiesis and an incidence of P53 mutations. Leukemia 1995;9:370-81.
70. Sugimoto K, Hirano N, Toyoshima H, Chiba S, Mano H, Takaku F, et al. Mutations of P53 gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Blood 1993;81:3022-6.
71. Abruzzese E, Nagesh Rao P, Slatkoff M, Cruz J, Powelle BL, Jackle B, et al. Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases. Cancer Genet Cytogenet 1997;93:140-6.
72. Dewald GW, Brecher M, Travis LB, Stupca PJ. Twenty-six patients with hematologic disorders and X chromosome abnormalities, Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ring sideroblasts. Cancer Genet Cytogenet 1989;42:173-85.
73. Dierlmam J, Michaux L, Criel A, Wlodarska I, Zeller W, Louwagie A, et al. Isodicentric(x)(q13) in haematological malignancies: presentation of five new cases, application of fluorescence in situ hybridization (HSH) and review of the literature. Br J Haematol 1995;91:885-91.
74. Mecucci C. Molecular features of primary MDS with cytogenetic changes. Leuk Res 1998;22:293-302.
75. Van Lom K, Hagemeijer A, Smit EME, Hahlen K, Groeneveld K, Lowenberg B. Cytogenetic clonality analysis in myelodysplastic syndrome: monosomy 7 can be demonstrated in the myeloid and in the lymphoid lineage. Leukemia 1995;9:1818-21.
76. Le Beau MM, Espinosa III R, Davis EM, Eisenbart JD, Larson RA, Green ED. Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid disorders. Blood 1996;88:1930-5.
77. Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, et al. Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood 1996;87:3579-86.
78. Luna-Fineman S, Hannon KM, Lange BJ. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 1995;85:1985-9.
79. Cremer T, Lichter P, Borden J, Ward DC, Manuelidis L. Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes. Hum Genet 1988;80:235-46.
80. Wyandt HE, Chinnappan D, Ionnidon S, Salama M, O'Hara C. Fluorescence in situ hybridization to assess aneuploidy for chromosomes 7 and 8 in hematologic disorders. Cancer Genet Cytogenet 1998;102:114-24.
81. Yan J, Zhang X, Fetni R, Drouin R. Trisomy 8 and monosmy 7 detected in bone marrow using primed in situ labeling, fluorescence in situ hybridization and conventional cytogenetic analyses, A study of 54 cases with hematological disorders. Cancer Genet Cytogenet 2001;125:30-40.
82. Ketterling RP, Wyatt WA, VanWier SA, Law M, Hodnefield JM, Hanson CA, et al. Primary myelodysplastic syndrome with normal cytogenetics: utility of "FISH panel testing" and M-FISH. Leuk Res 2002;26:235-40.
83. Mohr B, Bornhaüser M, Thiede C, Schäkel U, Schaich M, Illmer T, et al. Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome. Leukemia 2000;14:1031-8.
84. Van Limbergen H, Poppe B, Michaux L, Herens C, Brown J, Noens L, et al. Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH. Genes Chromosomes Cancer 2002;33:60-72.
85. Stephenson J, Lizhen H, Mufti GJ. Possible co-existence of ras activation and monosomy 7 in the leukemic transformation of myelodysplastic syndromes. Leuk Res 1995;19:741-8.
86. Bollag G, Clapp DW, Shih S, Adler F, Zhang YY, Thompson P, et al. Loss of NF1 results in activation of the RAS pathway and leads to aberrant growth in hematopoietic cells. Nat Genet 1996;12:144.
87. Padua RA, Guinn BA, Al-Sabah A, Smith M, Taylor C, Petterson T, et al. RAS, FMS, and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up. Leukemia 1998;12:887-92.
88. Yokota S, Kiyoi H, Nakao M, Iwai T, Misawa S, Okuda T, et al. Internal tandem duplication of the FLT3 gene is preferentially seen in acute myeloid leukemia and myelodysplastic syndrome among various hematologic malignancies, A study of a large series of patients and cell lines. Leukemia 1997;11:1605-9.
89. INK4b gene in myelodysplastic syndromes. Blood 1997;90:1403-9.
90. Raza A, Gezer S, Mundle S, Gao XZ, Alvi S, Borok R, et al. Apoptosis in bone marrow biopsy samples involving stromal and hematopoietic cells in 50 patients with myelodysplastic syndrome. Blood 1995;86:268-75.
91. Mundle SD, Venugopal P, Cartlidge JD, Pandav DV, Broady-Robinson L, Gezer S, et al. Indication of an involvement of interleukin-1b converting enzyme-like protease in intramedullary apoptotic cell death in the bone marrow of patients with myelodysplastic syndromes. Blood 1996;88:2640-7.
92. Busque L, Gilliland DG. X-inactivation analysis in the 1990s: promise and potential problems. Leukemia 1998;12:128-35.
93. Raskind WH, Steinmann L, Najfeld V. Clonal development of myeloproliferative disorders: clues to hematopoietic differentiation and multistep pathogenesis of cancer. Leukemia 1998;12:108-16.
94. Shannon KM, Turham AG, Chang SS, Bowcock AM, Rodgers PC, Carroll WL, et al. Familial bone marrow monosomy 7, Evidence that the predisposing locus is not on the long arm of chromosome 7. J Clin Invest 1989;84:984-9.
95. Luna-Fineman S, Shannon KM, Lange BJ. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 1995;85:1985-99.
96. Song SW, Sullivan MG, Legare RD, Hutchings S, Tan K, Kufrin D, et al. Haploinsufficiency of CBFA2 (AML1) causes familial thrombocytopenia with propensity to develop acute myelogenous leukemia (FDPIAML). Nat Genet 1999;23:166-74.
97. Nisse C, Lorthois C, Dorp V, Eloy E, Haguenoer JM, Fenaux P. Exposure to occupational and environmental factors in myelodysplastic syndromes, Preliminary results of a case-control study. Leukemia 1995;9:693-9.
98. West RR, Stafford DA, White AD, Bowen DT, Padua RA. Cytogenetic abnormalities in the myelodysplastic syndromes and occupational or environmental exposure. Blood 2000;95:2093-7.
99. Perera FA. Environment and cancer: who are susceptible? Science 1997;278:1068.
100. Willman CL. Molecular genetic features of myelodysplastic syndromes (MDS). Leukemia 1998;12(Suppl. 1):S2-6.