Skip to main content
SpringerLink
Log in

Cytogenetics of MDS

  • Chapter
  • First Online:
The Myelodysplastic Syndromes

Abstract

Cytogenetic aberrations are major markers in pathogenesis, diagnosis, and prognosis of patients with myelodysplastic syndromes (MDS). Their relevance for an individualized therapy in selected patients with MDS is increasing. Using conventional chromosomal banding analysis, aberrations are detectable in about 50% of patients. The application of additional methods like fluorescence in situ hybridization (FISH)-techniques improves the detection rate and diagnostic accuracy. In spite of the cytogenetic heterogeneity of MDS patients, the prognostic impact of the most frequent chromosomal changes is known and the understanding of rare abnormalities, independent clones, and double and complex aberrations is increasing. Future research will also focus on karyotype evolution, as it could give notice of disease progression and thus affect therapy decisions. International cooperations facilitate to unravel the remaining challenges for cytogenetics in MDS.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Haase D, Feuring-Buske M, Schäfer C, Schoch C, Troff C, Gahn B, Hiddemann W, Wörmann B (1997) Cytogenetic analysis of CD34+ subpopulations in AML and MDS characterized by the expression of CD38 and CD117. Leukemia 11:674–679

    Article  PubMed  CAS  Google Scholar 

  2. Nilsson L, Astrand-Grundström I, Anderson K, Arvidsson I, Hokland P, Bryder D, Kjeldsen L, Johansson B, Hellström-Lindberg E, Hast R, Jacobsen SEW (2002) Involvement and functional impairment of the CD34+CD38-Thy-1+ hematopoietic stem cell pool in myelodysplastic syndromes with trisomy 8. Blood 100:259–267

    PubMed  CAS  Google Scholar 

  3. Blau O, Hofmann WK, Baldus CD, Thiel G, Serbent V, Schümann E, Thiel E, Blau IW (2007) Chromosomal aberrations in bone marrow mesenchymal stroma cells from patients with myelodysplastic syndrome and acute myeloblastic leukemia. Exp Hematol 35:221–229

    Article  PubMed  CAS  Google Scholar 

  4. Haferlach C, Rieder H, Lillington DM, Dastugue N, Hagemeijer A, Harbott J, Stilgenbauer S, Knuutila S, Johansson B, Fonatsch C (2007) Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes. Genes Chromosomes Cancer 46:494–499

    Article  PubMed  CAS  Google Scholar 

  5. Steidl C, Steffens R, Gassmann W, Hildebrandt B, Hilgers R, Germing U, Trümper L, Haase D (2005) Adequate cytogenetic examination in myelodysplastic syndromes: analysis of 529 patients. Leukemia Res 29:987–993

    Article  Google Scholar 

  6. Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B, Kündgen A, Lübbert M, Kunzmann R, Giagounidis AAN, Aul C, Trümper L, Krieger O, Stauder R, Müller TH, Wimazal F, Valent P, Fonatsch C, Steidl 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

    Article  PubMed  CAS  Google Scholar 

  7. 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

    PubMed  CAS  Google Scholar 

  8. Pozdnyakova O, Miron PM, Tang GL, Walter O, Raza A, Woda B, Wang SA (2008) Cytogenetic abnormalities in a series of 1029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities. Cancer 113:3331–3340

    Article  PubMed  Google Scholar 

  9. Solé F, Luño E, Sanzo C, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Cigudosa JC, Millà F, Ribera JM, Bureo E, Martin 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

    PubMed  Google Scholar 

  10. Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G (1985) The 5q- anomaly. Cancer Genet Cytogenet 17:189–255

    Article  PubMed  CAS  Google Scholar 

  11. 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

    Article  PubMed  CAS  Google Scholar 

  12. 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

    Google Scholar 

  13. Graubert TA, Payton MA, Shao J, Walgren RA, Monahan RS, Frater JL, Walshauser MA, Martin MG, Kasai Y, Walter MJ (2009) Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. PLoS One 4:e4583

    Google Scholar 

  14. Mauritzson N, Albin M, Rylander L, Billström R, Ahlgren T, Mikoczy Z, Bjork J, Strömberg U, Nilsson PG, Mitelman F, Hagmar L, Johansson B (2002) Pooled analysis of clinical and cytogenetic features in treatment-related and de novo adult acute myeloid leukemia and myelodysplastic syndromes based on a consecutive series of 761 patients analyzed 1976–1993 and on 5098 unselected cases reported in the literature 1974–2001. Leukemia 16:2366–2378

    Google Scholar 

  15. Galvan AB, Mallo M, Arenillas L, Salido M, Espinet B, Pedro C, Florensa L, Serrano S, Solé F (2010) Does monosomy 5 really exist in myelodysplastic syndromes and acute myeloid leukemia? Leukemia Res 34:1242–1245

    Article  CAS  Google Scholar 

  16. 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 Acad Sci U S A 95:3781–3785

    Article  PubMed  CAS  Google Scholar 

  17. 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

    Article  PubMed  CAS  Google Scholar 

  18. Olney HJ, Le Beau MM (2002) The cytogenetics and molecular biology of myelodysplastic syndromes. In: Bennett JM (ed) The myelodysplastic syndromes: pathobiology and clinical management. Marcel Dekker, New York, pp 89–119

    Google Scholar 

  19. Chen GB, Zeng WH, Miyazato A, Billings E, Maciejewski JP, Kajigaya S, Sloand EM, Young NS (2004) Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities. Blood 104:4210–4218

    Article  PubMed  CAS  Google Scholar 

  20. Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tonnissen ER, van der Heijden A, Scheele TN, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH (2010) Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nature Genet 42:665–667

    Article  PubMed  CAS  Google Scholar 

  21. Emanuel PD (1999) Myelodysplasia and myeloproliferative disorders in childhood: an update. Br J Haematol 105:852–863

    Article  PubMed  CAS  Google Scholar 

  22. Luna-Fineman S, Shannon KM, Lange BJ (1995) Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 85:1985–1999

    PubMed  CAS  Google Scholar 

  23. Passmore SJ, Hann IM, Stiller CA, Ramani P, Swansbury GJ, Gibbons B, Reeves BR, Chessells JM (1995) Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood 85:1742–1750

    PubMed  CAS  Google Scholar 

  24. Levine EG, Bloomfield CD (1992) Leukemias and myelodysplastic syndromes secondary to drug, radiation, and environmental exposure. Semin Oncol 19:47–84

    PubMed  CAS  Google Scholar 

  25. Pedersen-Bjergaard J, Pedersen M, Roulston D, Philip P (1995) Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia. Blood 86:3542–3552

    PubMed  CAS  Google Scholar 

  26. 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

    PubMed  CAS  Google Scholar 

  27. Huebner G, Karthaus M, Pethig K, Freund M, Ganser A (2000) Myelodysplastic syndrome and acute myelogenous leukemia secondary to heart transplantation. Transplantation 70:688–690

    Article  PubMed  CAS  Google Scholar 

  28. Knipp S, Hildebrandt B, Richter J, Haas R, Germing U, Gattermann C (2005) Secondary myelodysplastic syndromes following treatment with azathioprine are associated with aberrations of chromosome 7. Haematologica 90:691–693

    PubMed  Google Scholar 

  29. Schoch C, Kohlmann A, Dugas M, Kern W, Schnittger S, Haferlach T (2006) Impact of trisomy 8 on expression of genes located on chromosome 8 in different AML subgroups. Genes Chromosomes Cancer 45:1164–1168

    Article  PubMed  CAS  Google Scholar 

  30. Iwabuchi A, Ohyashiki K, Ohyashiki JH, Sasao I, Murakami T, Kodama A, Toyama K (1992) Trisomy of chromosome 8 in myelodysplastic syndrome: significance of the fluctuating trisomy 8 population. Cancer Genet Cytogenet 62:70–74

    Article  PubMed  CAS  Google Scholar 

  31. Sloand EM, Pfannes L, Reddy R, Reddy P, Groopman JS, Young NS (2007) Suppression of cyclin D1 by on 01910.Na is associated with decreased survival of trisomy 8 myelodyplastic bone marrow progenitors: a potential targetted therapy. Blood (ASH Annual Meeting Abstracts) 110:822

    Google Scholar 

  32. Sloand EM, Kim S, Fuhrer M, Risitano AM, Nakamura R, Maciejewski JP, Barrett AJ, Young NS (2002) Fas-mediated apoptosis is important in regulating cell replication and death in trisomy 8 hematopoietic cells but not in cells with other cytogenetic abnormalities. Blood 100:4427–4432

    Article  PubMed  CAS  Google Scholar 

  33. Sloand EM, Pfannes L, Chen GB, Shah S, Solomou EE, Barrett J, Young NS (2007) CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) express early apoptotic markers but avoid programmed cell death by up-regulation of antiapoptotic proteins. Blood 109:2399–2405

    Article  PubMed  CAS  Google Scholar 

  34. Laï JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Lepelley P, Wattel E, Fenaux P (1995) Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of p53 mutations. Leukemia 9:370–381

    PubMed  Google Scholar 

  35. Becher R, Carbonell F, Bartram CR (1990) Isochromosome 17q in Ph1-negative leukemia: a clinical, cytogenetic, and molecular study. Blood 75:1679–1683

    PubMed  CAS  Google Scholar 

  36. Mc Clure RF, Dewald GW, Hoyer JD, Hanson CA (1999) Isolated isochromosome 17q: a distinct type of mixed myeloproliferative disorder/myelodysplastic syndrome with an aggressive clinical course. Br J Haematol 106:445–454

    Article  Google Scholar 

  37. Kaneko H, Misawa S, Horiike S, Nakai H, Kashima K (1995) TP53 mutations emerge at early phase of myelodysplastic syndrome and are associated with complex chromosomal abnormalities. Blood 85:2189–2193

    PubMed  CAS  Google Scholar 

  38. Wattel E, Preudhomme C, Hecquet B, Vanrumbeke M, Quesnel B, Dervite I, Morel P, Fenaux P (1994) p53 mutations are associated with resistance to chemotherapy and short survival in hematologic malignancies. Blood 84:3148–3157

    PubMed  CAS  Google Scholar 

  39. Horiike S, Misawa S, Kaneko H, Sasai Y, Kobayashi M, Fujii H, Tanaka S, Yagita M, Abe T, Kashima K, Taniwaki M (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 13:1235–1242

    Article  PubMed  CAS  Google Scholar 

  40. Schoch C, Kern W, Kohlmann A, Hiddemann W, Schnittger S, Haferlach T (2005) Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specific gene expression profile. Genes Chromosomes Cancer 43:227–238

    Article  PubMed  CAS  Google Scholar 

  41. Ben-Yehuda D, Krichevsky S, Caspi O, Rund D, Polliack A, Abeliovich D, Zelig O, Yahalom V, Paltiel O, Or R, Peretz T, Ben-Neriah S, Yehuda O, Rachmilewitz EA (1996) Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype. Blood 88:4296–4303

    PubMed  CAS  Google Scholar 

  42. Douet-Guilbert N, Basinko A, Morel F, Bris MJ, Ugo V, Morice P, Berthou C, Braekeleer M (2008) Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions. Ann Hematol 87:537–544

    Article  PubMed  CAS  Google Scholar 

  43. Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, Champion KM, Li J, Whittaker P, Stavrides G, Hunt AR, Huntly BJP, 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

    Article  PubMed  CAS  Google Scholar 

  44. Roulston D, Espinosa R, Stoffel M, Bell GI, Le Beau MM (1993) Molecular genetics of myeloid leukemia: identification of the commonly deleted segment of chromosome 20. Blood 82:3424–3429

    PubMed  CAS  Google Scholar 

  45. Wang PW, Iannantuoni K, Davis EM, Espinosa R, Stoffel M, Le Beau MM (1998) Refinement of the commonly deleted segment in myeloid leukemias with a del(20q). Genes Chromosomes Cancer 21:75–81

    Article  PubMed  CAS  Google Scholar 

  46. 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

    Article  PubMed  CAS  Google Scholar 

  47. Douet-Guilbert N, Laï JL, Basinko A, Gueganic N, Andrieux J, Pollet B, Plantier I, Delattre C, Crépin O, Corm S, Le Bris MJ, Morel F, De Braekeleer M (2008) Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome. Br J Haematol 143:716–720

    Article  PubMed  CAS  Google Scholar 

  48. United Kingdom Cancer Cytogenetics Group (UKCCG) (1992) Loss of the Y chromosome from normal and neoplastic bone marrows. Genes Chromosomes Cancer 5:83–88 (Erratum in: Genes Chromosom Cancer 85, 411)

    Google Scholar 

  49. Wong AK, Fang B, Zhang L, Guo XQ, Lee S, Schreck R (2008) Loss of the Y chromosome—an age-related or clonal phenomenon in acute myelogenous leukemia/myelodysplastic syndrome? Arch Pathol Lab Med 132:1329–1332

    PubMed  Google Scholar 

  50. Zhang LJ, Shin ES, Yu ZX, Li SB (2007) Molecular genetic evidence of Y chromosome loss in male patients with hematological disorders. Chin Med J 120:2002–2005

    PubMed  CAS  Google Scholar 

  51. 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

    Article  PubMed  CAS  Google Scholar 

  52. Bernasconi P (2008) Molecular pathways in myelodysplastic syndromes and acute myeloid leukemia: relationships and distinctions—a review. Br J Haematol 142:695–708

    Article  PubMed  CAS  Google Scholar 

  53. Xiao Z, Zhang M, Liu X, Zhang Y, Yang L, Hao Y (2006) MEL1S, not MEL1, is overexpressed in myelodysplastic syndromes patients with t(1;3)(p36;q21). Leukemia Res 30:332–334

    Article  CAS  Google Scholar 

  54. 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

    Article  PubMed  CAS  Google Scholar 

  55. Raimondi SC, Dubé ID, Valentine MB, Mirro J, Watt HJ, Larson RA, Bitter MA, Le Beau MM, Rowley JD (1989) Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia. Leukemia 3:42–47

    PubMed  CAS  Google Scholar 

  56. Yoneda-Kato N, Look AT, Kirstein MN, Valentine MB, Raimondi SC, Cohen KJ, Carroll AJ, Morris SW (1996) The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. Oncogene 12:265–275

    PubMed  CAS  Google Scholar 

  57. Estey E, Trujillo JM, Cork A, O’Brien S, Beran M, Kantarjian H, Keating M, Freireich EJ, Stass S (1992) AML-associated cytogenetic abnormalities (inv (16), del (16), t(8;21)) in patients with myelodysplastic syndromes. Hematol Pathol 6:43–48

    PubMed  CAS  Google Scholar 

  58. Kojima K, Omoto E, Hara M, Sasaki K, Katayama Y, Nawa Y, Kimura Y, Azuma T, Takimoto H, Harada M (1998) Myelodysplastic syndrome with translocation (8;21): a distinct myelodysplastic syndrome entity or M2-acute myeloid leukemia with extensive myeloid maturation? Ann Hematol 76:279–282

    Article  PubMed  CAS  Google Scholar 

  59. Taj AS, Ross FM, Vickers M, Choudhury DN, Harvey JF, Barber JCK, Barton C, Smith AG (1995) t(8;21) myelodysplasia, an early presentation of M2 AML. Br J Haematol 89:890–892

    Article  PubMed  CAS  Google Scholar 

  60. Narayanan MN, Geary CG, Harrison CJ, Cinkotai KI, Lewis MJ (1993) Three cases of the myelodysplastic syndrome with pericentric inversion of chromosome 16. Br J Haematol 85:217–219

    Article  PubMed  CAS  Google Scholar 

  61. Ohyashiki K, Murakami T, Ohyashiki JH, Kawakubo K, Fujimura T, Iwabuchi A, Toyama K (1995) Double-minute chromosomes appearing in a patient with myelodysplastic syndrome with disease evolution. Cancer Genet Cytogenet 79:169–172

    Article  PubMed  CAS  Google Scholar 

  62. Reddy KS, Sulcova V (1997) c-myc amplification in a preleukemia patient with trisomy 4 and double minutes: review of the unique coexistence of these two chromosome abnormalities in acute myelogenous leukemia. Cancer Genet Cytogenet 95:206–209

    Article  PubMed  CAS  Google Scholar 

  63. Sambani C, Trafalis DTP, Vessalas G, Politis G, Peristeris P, Nakopoulou L, Giannopoulou J, Michaelidis C, Ayoutantis M, Fantelias GE (1998) Trisomy 6 and double minute chromosomes in a case of chronic myelomonocytic leukemia. Cancer Genet Cytogenet 106:180–181

    Article  PubMed  CAS  Google Scholar 

  64. Mohamed AN, Macoska JA, Kallioniemi A, Kallioniemi OP, Waldman F, Ratanatharathorn V, Wolman SR (1993) Extrachromosomal gene amplification in acute myeloid leukemia; characterization by metaphase analysis, comparative genomic hybridization, and semi-quantitative PCR. Genes Chromosomes Cancer 8:185–189

    Article  PubMed  CAS  Google Scholar 

  65. Sait SNJ, Qadir MU, Conroy JM, Matsui SI, Nowak NJ, Baer MR (2002) Double minute chromosomes in acute myeloid leukemia and myelodysplastic syndrome: identification of new amplification regions by fluorescence in situ hybridization and spectral karyotyping. Genes Chromosomes Cancer 34:42–47

    Article  PubMed  CAS  Google Scholar 

  66. Streubel B, Valent P, Jäger U, Edelhäuser M, Wandt H, Wagner T, Büchner T, Lechner K, Fonatsch C (2000) Amplification of the MLL gene on double minutes, a homogeneously staining region, and ring chromosomes in five patients with acute myeloid leukemia or myelodysplastic syndrome. Genes Chromosomes Cancer 27:380–386

    Article  PubMed  CAS  Google Scholar 

  67. Han JY, Theil KS, Hoeltge G (2006) Frequencies and characterization of cytogenetically unrelated clones in various hematologic malignancies: seven years of experiences in a single institution. Cancer Genet Cytogenet 164:128–132

    Article  PubMed  CAS  Google Scholar 

  68. Heim S, Mitelman F (1989) Cytogenetically unrelated clones in hematological neoplasms. Leukemia 3:6–8

    PubMed  CAS  Google Scholar 

  69. Johansson B, Billstroem R, Broberg K, Fioretos T, Nilsson PG, Ahlgren T, Malm C, Samuelsson BO, Mitelman F (1999) Cytogenetic polyclonality in hematologic malignancies. Genes Chromosomes Cancer 24:222–229

    Article  PubMed  CAS  Google Scholar 

  70. Kobayashi H, Kaneko Y, Maseki N, Sakurai M (1990) Karyotypically unrelated clones in acute leukemias and myelodysplastic syndromes. Cancer Genet Cytogenet 47:171–178

    Article  PubMed  CAS  Google Scholar 

  71. Mitelman F (1998) Catalog of chromosome aberrations in cancer, 6th edn. Wiley-Liss, New York

    Google Scholar 

  72. Musilová R, Michalová K, Zemanová Z, Brezinová J (1996) Multiple unrelated clones in myelodysplastic syndrome and in acute myeloid leukemia. Cancer Genet Cytogenet 88:141–143

    Article  PubMed  Google Scholar 

  73. Pedersen-Bjergaard J, Timshel S, Andersen MK, Andersen AS, Philip P (1998) Cytogenetically unrelated clones in therapy-related myelodysplasia and acute myeloid leukemia: experience from the Copenhagen series updated to 180 consecutive cases. Genes Chromosomes Cancer 23:337–349

    Article  PubMed  CAS  Google Scholar 

  74. Mitelman F (1991) ISCN Guidelines for cancer cytogenetics, supplement to an international system for human cytogenetic nomenclature. Karger, Basel

    Google Scholar 

  75. Pedersen-Bjergaard J, Andersen MK, Christiansen DH, Nerlov C (2002) Genetic pathways in therapy-related myelodysplasia and acute myeloid leukemia. Blood 99:1909–1912

    Article  PubMed  CAS  Google Scholar 

  76. Trost D, Hildebrandt B, Beier M, Müller N, Germing U, Royer-Pokora B (2006) Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia. Cancer Genet Cytogenet 165:51–63

    Article  PubMed  CAS  Google Scholar 

  77. Rücker FG, Bullinger L, Schwaenen C, Lipka DB, Wessendorf S, Frohling S, Bentz M, Miller S, Scholl C, Schlenk RF, Radlwimmer B, Kestler HA, Pollack JR, Lichter P, Döhner K, Döhner H (2006) Disclosure of candidate genes in acute myeloid leukemia with complex karyotypes using microarray-based molecular characterization. J Clin Oncol 24:3887–3894

    Article  PubMed  CAS  Google Scholar 

  78. Boultwood J, Wainscoat JS (2001) Clonality in the myelodysplastic syndromes. Int J Hematol 73:411–415

    Article  PubMed  CAS  Google Scholar 

  79. Cermák J, Belicková M, Krejcová H, Michalová K, Zilovcová S, Zemanová Z, Brezinová J, Sieglová Z (2005) The presence of clonal cell subpopulations in peripheral blood and bone marrow of patients with refractory cytopenia with multilineage dysplasia but not in patients with refractory anemia may reflect a multistep pathogenesis of myelodysplasia. Leukemia Res 29:371–379

    Article  Google Scholar 

  80. Galili N, Cerny J, Raza A (2007) Current treatment options: impact of cytogenetics on the course of myelodysplasia. Curr Treat Options Oncol 8:117–128

    Article  PubMed  Google Scholar 

  81. Raskind WH, Tirumali N, Jacobson R, Singer J, Fialkow PJ (1984) Evidence for a multistep pathogenesis of a myelodysplastic syndrome. Blood 63:1318–1323

    Google Scholar 

  82. Johansson B, Mertens F, Mitelman F (1996) Primary vs, secondary neoplasia-associated chromosomal abnormalities—balanced rearrangements vs, genomic imbalances? Genes Chromosomes Cancer 16:155–163

    Article  PubMed  CAS  Google Scholar 

  83. Mallo M, Cervera J, Schanz J, Such E, García-Manero G, Luño E, Steidl C, Espinet B, Vallespí T, Germing U, Blum S, Ohyashiki K, Grau J, Pfeilstöcker M, Hernández JM, Noesslinger T, Giagounidis A, Aul C, Calasanz MJ, Martín ML, Valent P, Collado R, Haferlach C, Fonatsch C, Lübbert M, Stauder R, Hildebrandt B, Krieger O, Pedro C, Arenillas L, Sanz MA, Valencia A, Florensa L, Sanz GF, Haase D, Solé F (2010) Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q. Leukemia (in press)

    Google Scholar 

  84. Steidl C, Schabla R, Germing U, Hildebrandt B, Noesslinger T, Pfeilstoecker M, Giagounidis A, Kunzmann R, Haas P, Luebbert M, Truemper L, Haase D (2005) Sequential cytogenetic analyses of 577 patients with myelodysplastic syndromes: correlations between initial karyotype, cytogenetic dynamics, and clinical course. Blood (ASH Annual Meeting Abstracts) 106:2531

    Google Scholar 

  85. Tricot G, Boogaerts MA, De Wolf-Peeters C, Van den Berghe H, Verwilghen RL (1985) The myelodysplastic syndromes: different evolution patterns based on sequential morphological and cytogenetic investigations. Br J Haematol 59:659–670

    Article  PubMed  CAS  Google Scholar 

  86. Ghaddar HM, Stass SA, Pierce S, Estey EH (1994) Cytogenetic evolution following the transformation of myelodysplastic syndrome to acute myelogenous leukemia: implications on the overlap between the two diseases. Leukemia 8:1649–1653

    PubMed  CAS  Google Scholar 

  87. Horiike S, Misawa S, Nakai H, Kaneko H, Yokota S, Taniwaki M, Yamane Y, Inazawa J, Abe T, Kashima K (1994) N-ras mutation and karyotypic evolution are closely associated with leukemic transformation in myelodysplastic syndromes. Leukemia 8:1331–1336

    PubMed  CAS  Google Scholar 

  88. 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

    Article  PubMed  CAS  Google Scholar 

  89. Lai YY, Qiu JY, Zhang Y, Shi Y, He Q, Dang H, Lu DP (2004) Clinical significance of continuous karyotyping in myelodysplastic syndromes. Zhonghua Xue Ye Xue Za Zhi 25:645–648

    PubMed  Google Scholar 

  90. Tien HF, Wang CH, Chuang SM, Lee FY, Liu MC, Chen YC, Shen MC, Lin KH, Lin DT (1995) Acute leukemic transformation of myelodysplastic syndrome—immunophenotypic, genotypic, and cytogenetic studies. Leukemia Res 19:595–603

    Article  CAS  Google Scholar 

  91. White AD, Hoy TG, Jacobs A (1994) Extended cytogenetic follow-up and clinical progress in patients with myelodysplastic syndromes (MDS). Leukemia Lymphoma 12:401–412

    Google Scholar 

  92. Daniel CP, Ponting IL, Dexter TM (1989) Growth and development of haemopoietic cells: a deterministic process? Haematol Blood Transfus 32:172–177

    PubMed  CAS  Google Scholar 

  93. Kanamaru A, Tamura S (1993) Application of long-term marrow cultures for studying the leukemic transformation of myelodysplastic syndromes. Leukemia Lymphoma 11:345–352

    Article  PubMed  CAS  Google Scholar 

  94. Tamura S, Kanamaru A, Takemoto Y, Kakishita E, Nagai K (1993) Clonal evolutions during long-term cultures of bone marrow from de novo acute myeloid leukemia with trilineage myelodysplasia and with myelodysplastic remission marrow. Br J Haematol 84:219–226

    Article  PubMed  CAS  Google Scholar 

  95. Michalová K, Cermák J, Brezinová J, Zemanová Z (1999) Double minute chromosomes in a patient with myelodysplastic syndrome transforming into acute myeloid leukemia. Cancer Genet Cytogenet 109:76–78

    Article  PubMed  Google Scholar 

  96. Ohyashiki JH, Ohyashiki K, Fujimura T, Kawakubo K, Shimamoto T, Iwabuchi A, Toyama K (1994) Telomere shortening associated with disease evolution patterns in myelodysplastic syndromes. Cancer Res 54:3557–3560

    PubMed  CAS  Google Scholar 

  97. Pinheiro RF, de Sá Moreira ED, Silva MRR, Alberto FL, Chauffaille M (2008) FLT3 internal tandem duplication during myelodysplastic syndrome follow-up: a marker of transformation to acute myeloid leukemia. Cancer Genet Cytogenet 183:89–93

    Article  PubMed  CAS  Google Scholar 

  98. Lorenzo F, Nishii K, Mortma F, Kuwagata S, Usui E, Shiku H (2006) Mutational analysis of the KIT gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Leukemia Res 30:1235–1239

    Article  CAS  Google Scholar 

  99. Mori N, Morosetti R, Hoflehner E, Lübbert M, Mizoguchi H, Koeffler HP (2000) Allelic loss in the progression of myelodysplastic syndrome. Cancer Res 60:3039–3042

    PubMed  CAS  Google Scholar 

  100. Harada S, Komatsu H, Seto M, Ni HP, Xu JH, Hayami Y, Tsuboi K, Wakita A, Nitta M, Kato T, Ueda R (1998) Microsatellite instability is rare in the clinical course of myelodysplastic syndrome studied with DNA from fresh and paraffin embedded tissues. J Cancer Res Clin Oncol 124:231–235

    Article  PubMed  CAS  Google Scholar 

  101. Maeck L, Haase D, Schoch C, Hiddemann W, Alves F (2000) Genetic instability in myelodysplastic syndrome: detection of microsatellite instability and loss of heterozygosity in bone marrow samples with karyotype alterations. Br J Haematol 109:842–846

    Article  PubMed  CAS  Google Scholar 

  102. Tasaka T, Lee S, Spira S, Takeuchi S, Hatta Y, Nagai M, Takahara J, Koeffler HP (1996) Infrequent microsatellite instability during the evolution of the myelodysplastic syndrome to acute myelocytic leukemia. Leukemia Res 20:113–117

    Article  CAS  Google Scholar 

  103. Braulke F, Schanz J, Jung K, Shirneshan K, Schulte K, Schuetze C, Steffens R, Truemper L, Haase D (2010) FISH analysis of circulating CD34+ cells as a new tool for genetic monitoring in MDS: verification of the method and application to 27 MDS patients. Leukemia Res 34:1296–1301

    Google Scholar 

  104. Morel P, Hebbar M, Laï JL, Duhamel A, Preudhomme C, Wattel E, Bauters 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

    PubMed  CAS  Google Scholar 

  105. Toyama K, Ohyashiki K, Yoshida Y, Abe T, Asano S, Hirai H, Hirashima K, Hotta T, Kuramoto A, Kuriya S, Miyazaki T, Kakishita E, Mizoguchi H, Okada M, Shirakawa S, Takaku F, Tomonaga M, Uchino H, Yasunaga K, Nomura T (1993) Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan. Leukemia 7:499–508

    PubMed  CAS  Google Scholar 

  106. 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 chromosome 5 and chromosome 7. J Clin Oncol 4:325–345

    PubMed  CAS  Google Scholar 

  107. Andersen MK, Pedersen-Bjergaard J (2000) Increased frequency of dicentric chromosomes in therapy-related MDS and AML compared to de novo disease is significantly related to previous treatment with alkylating agents and suggests a specific susceptibility to chromosome breakage at the centromere. Leukemia 14:105–111

    Article  PubMed  CAS  Google Scholar 

  108. Andersen MK, Christiansen DH, Kirchhoff M, Pedersen-Bjergaard J (2001) Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy-related MDS and AML, and is closely related to mutation of the TP53 gene and to previous therapy with alkylating agents. Genes Chromosomes Cancer 31:33–41

    Article  PubMed  CAS  Google Scholar 

  109. Andersen MK, Christiansen DH, Pedersen-Bjergaard J (2005) Amplification or duplication of chromosome band 21q22 with multiple copies of the AML1 gene and mutation of the TP53 gene in therapy-related MDS and AML. Leukemia 19:197–200

    Article  PubMed  CAS  Google Scholar 

  110. Bernasconi P, Cavigliano PM, Boni M, Calatroni S, Klersy C, Giardini I, Rocca B, Crosetto N, Caresana M, Lazzarino M, Bernasconi C (2003) Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients. Leukemia 17:2107–2112

    Article  PubMed  CAS  Google Scholar 

  111. Rigolin GM, Bigoni R, Milani R, Cavazzini F, Roberti MG, Bardi A, Agostini P, Della Porta M, Tieghi A, Piva N, Cuneo A, Castoldi G (2001) Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. Leukemia 15:1841–1847

    Article  PubMed  CAS  Google Scholar 

  112. Mallo M, Arenillas L, Espinet B, Salido M, Hernández JM, Lumbreras E, del Rey M, Arranz E, Ramiro S, Font P, González O, Renedo M, Cervera J, Such E, Sanz GF, Luño E, Sanzo C, González M, Calasanz MJ, Mayans J, García-Ballesteros C, Amigo V, Collado R, Oliver I, Carbonell F, Bureo E, Insunza A, Yañez L, Muruzabal MJ, Gómez-Beltrán E, Andreu R, León P, Gómez V, Sanz A, Casasola N, Moreno E, Alegre A, Martín ML, Pedro C, Serrano S, Florensa L, Solé F (2008) Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q. Haematologica 93:1001–1008

    Article  PubMed  Google Scholar 

  113. Trost D, Hildebrandt B, Müller N, Germing U, Royer-Pokora B (2004) Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics. Leukemia Res 28:171–177

    Article  CAS  Google Scholar 

  114. Shen Y, Xue Y, Li J, Guo Y, Pan J, Wu Y (2001) Detection of monosomy 7 or 7q- in cases of myelodysplastic syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18:255–258

    PubMed  CAS  Google Scholar 

  115. Jakovleva K, Ogard I, Arvidsson I, Jacobsson B, Swolin B, Hast R (2001) Masked monosomy 7 in myelodysplastic syndromes is uncommon and of undetermined clinical significance. Leukemia Res 25:197–203

    Article  CAS  Google Scholar 

  116. Panani AD, Pappa V (2005) Hidden chromosome 8 abnormalities detected by FISH in adult primary myelodysplastic syndromes. In Vivo 19:979–981

    PubMed  Google Scholar 

  117. Romeo M, Chauffaille M, Silva MR, Bahia DM, Kerbauy J (2002) Comparison of cytogenetics with FISH in 40 myelodysplastic syndrome patients. Leukemia Res 26:993–996

    Article  CAS  Google Scholar 

  118. Cherry AM, Brockman SR, Paternoster SF, Hicks GA, Neuberg D, Higgins RR, Bennett JM, Greenberg PL, Miller K, Tallman MS, Rowe J, Dewald GW (2003) Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome: an Eastern Cooperative Oncology Group (ECOG) study. Leukemia Res 27:1085–1090

    Article  CAS  Google Scholar 

  119. Slovak ML, Dewald GW (2008) International Working Group on MDS cytogenetics: October 2007 meeting report. Leukemia Res 32:1329–1332

    Article  Google Scholar 

  120. Barouk-Simonet E, Soenen-Cornu V, Roumier C, Cosson A, Laï JL, Fenaux P, Preudhomme C (2005) Role of multiplex FISH in identifying chromosome involvement in myelodysplastic syndromes and acute myeloid leukemias with complex karyotypes: a report on 28 cases. Cancer Genet Cytogenet 157:118–126

    Article  PubMed  CAS  Google Scholar 

  121. Crescenzi B, La Starza R, Romoli S, Beacci D, Matteucci C, Barba G, Aventin A, Marynen P, Ciolli S, Nozzoli C, Martelli MF, Mecucci C (2004) Submicroscopic deletions in 5q-associated malignancies. Haematologica 89:281–285

    PubMed  CAS  Google Scholar 

  122. Li JY, Xiao B, Chen LJ, Pan JL, Xu W, Qiu HR, Li L, Xue YQ (2008) An analysis of complex chromosomal aberrations in seven cases of myelodysplastic syndromes by M-FISH and whole chromosome painting. Int J Hematol 88:369–373

    Article  PubMed  Google Scholar 

  123. Mohr B, Bornhäuser M, Thiede C, Schäkel U, Schaich M, Illmer T, Pascheberg U, Ehninger G (2000) Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome. Leukemia 14:1031–1038

    Article  PubMed  CAS  Google Scholar 

  124. Van Limbergen H, Poppe B, Michaux L, Herens C, Brown J, Noens L, Berneman Z, De Bock R, De Paepe A, Speleman F (2002) Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH. Genes Chromosomes Cancer 33:60–72

    Article  PubMed  CAS  Google Scholar 

  125. Vehmeyer K, Haase D, Alves F (2001) Increased peripheral stem cell pool in MDS: an indication of disease progression? Leukemia Res 25:955–959

    Article  CAS  Google Scholar 

  126. Knapp RH, Dewald GW, Pierre RV (1985) Cytogenetic studies in 174 consecutive patients with preleukemic or myelodysplastic syndromes. Mayo Clinic Proc 60:507–516

    Article  CAS  Google Scholar 

  127. Billström R, Thiede T, Hansen S, Heim S, Kristoffersson U, Mandahl N, Mitelman F (1988) Bone marrow karyotype and prognosis in primary myelodysplastic syndromes. Euro J Haematol 41:341–346

    Article  Google Scholar 

  128. Nowell PC, Besa EC (1989) Prognostic significance of single chromosome abnormalities in preleukemic states. Cancer Genet Cytogenet 42:1–7

    Article  PubMed  CAS  Google Scholar 

  129. Pierre RV, Catovsky D, Mufti GJ, Swansbury GJ, Mecucci C, Dewald GW, Ruutu T, Vandenberghe H, Rowley JD, Mitelman F, Reeves BR, Alimena G, Garson OM, Lawler SD, de la Chapelle A (1989) Clinical-cytogenetic correlations in myelodysplasia (preleukemia). Cancer Genet Cytogenet 40:149–161

    Article  PubMed  CAS  Google Scholar 

  130. Giagounidis AAN, Germing U, Aul C (2006) Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res 12:5–10

    Article  PubMed  CAS  Google Scholar 

  131. Steidl C, Schanz J, Le Beau MM, Bennett JM, Germing U, Greenberg PL, Haase D (2007) Coalescence of the German-Austrian and IMRAW cytogenetic MDS databases: modification of patient risk groups. Blood (ASH Annual Meeting Abstracts) 110:2468

    Google Scholar 

  132. Schanz J, Slovak ML, Ohyashiki K, Solé F, Mallo MD, Steidl C, Pfeilstoecker M, Noesslinger T, Hildebrandt B, Luebbert M, Andersen MK, Giagounidis A, Valent P, Fonatsch C, Germing U, Haase D (2008) New prognostic data on rare cytogenetic abnormalities in MDS: a collaborative study of the international working group on MDS cytogenetics. Blood (ASH Annual Meeting Abstracts) 112:2688

    Google Scholar 

  133. Schanz J, Tuechler H, Solé F, Mallo M, Hildebrandt B, Slovak ML, Ohyashiki K, Steidl C, Fonatsch C, Pfeilstoecker M, Noesslinger T, Valent P, Giagounidis A, Luebbert M, Stauder R, Krieger O, Le Beau MM, Bennett JM, Greenberg PL, Germing U, Haase D (2009) Cytogenetic risk features in MDS-update and present state. Blood (ASH Annual Meeting Abstracts) 114:1084

    Google Scholar 

  134. Braulke F, Schanz J, Steidl C, Truemper LH, Haase D (2007) FISH-Analyses of cirulating CD34+cells in MDS-Patients—a suitable method to measure and predict response to 5-azacytidinie. Blood (ASH Annual Meeting Abstracts) 110:2466

    Google Scholar 

  135. Nowell PC, Besa EC, Stelmach T, Finan JB (1986) Chromosome studies in preleukemic states. V. Prognostic significance of single versus multiple abnormalities. Cancer 58:2571–2575

    Article  PubMed  CAS  Google Scholar 

  136. Schanz J, Estey EH, Steidl C, Germing U, Hildebrandt B, Garcia-Manero G, Kantarjian HM, Haase D (2007) Multivariate analysis suggests that the prognostic impact of poor cytogenetics is potentially underestimated in the IPSS. Blood (ASH Annual Meeting Abstracts) 110:248

    Google Scholar 

  137. Bennett JM (2005) A comparative review of classification systems in myelodysplastic syndromes (MDS). Semin Oncol 32:S3–S10

    Article  PubMed  Google Scholar 

  138. Lee JH, Shin YR, Lee JS, Kim WK, Chi HS, Park CJ, Seo EJ, Lee KH (2003) Application of different prognostic scoring systems and comparison of the FAB and WHO classifications in Korean patients with myelodysplastic syndrome. Leukemia 17:305–313

    Article  PubMed  Google Scholar 

  139. Müller-Berndorff H, Haas PS, Kunzmann R, Schulte-Mönting J, Lübbert M (2006) Comparison of five prognostic scoring systems, the French-American-British (FAB) and World Health Organization (WHO) classifications in patients with myelodysplastic syndromes: results of a single-center analysis. Ann Hematol 85:502–513

    Article  PubMed  Google Scholar 

  140. Steidl C, Schanz J, Pfeilstoecker M, Noesslinger T, Hildebrandt B, Kuendgen A, Luebbert M, Kunzmann R, Giagounidis A, Aul C, Truemper L, Krieger O, Stauder R, Mueller T, Wimazal F, Valent P, Fonatsch C, Germing U, Haase D (2007) Growing Evidence for an Underestimation of Poor-Risk Cytogenetics in the International Prognostic Scoring System in Myelodysplastic Syndromes. Clin Leukemia 1:353–356

    Article  Google Scholar 

  141. Giagounidis AAN, Haase S, Germing U, Schlegelberger B, Wilkens L, Büsche G, Kreipe HH, Wysk J, Grips KH, Grabenhorst U, Rothmann F, Lübbert M, Ganser A, Aivado M, Heinsch M, Aul C (2005) Treatment of myelodysplastic syndrome with isolated del(5q) including bands q31–q33 with a combination of all-trans-retinoic acid and tocopherol-alpha: a phase II study. Ann Hematol 84:389–394

    Article  PubMed  CAS  Google Scholar 

  142. List A, Kurtin S, Roe DJ, Buresh A, Mahadevan D, Fuchs D, Rimsza L, Heaton R, Knight R, Zeldis JB (2005) Efficacy of lenalidomide in myelodysplastic syndromes. N Engl J Med 352:549–557

    Article  PubMed  CAS  Google Scholar 

  143. 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 S (2006) Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med 355:1456–1465

    Article  PubMed  CAS  Google Scholar 

  144. Knipp S, Hildebrand B, Kundgen A, Giagounidis A, Kobbe G, Haas R, Aul C, Gattermann N, Germing U (2007) Intensive chemotherapy is not recommended for patients aged >60 years who have myelodysplastic syndromes or acute myeloid leukemia with high-risk karyotypes. Cancer 110:345–352

    Article  PubMed  CAS  Google Scholar 

  145. 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 (1998) Cytogenetic abnormalities in primary myelodysplastic syndrome are highly predictive of outcome after allogeneic bone marrow transplantation. Blood 92:1910–1917

    PubMed  CAS  Google Scholar 

  146. Fenaux P, Mufti GJ, Hellstrom-Lindberg E, Santini V, Finelli C, Giagounidis A, Schoch R, Gattermann N, Sanz G, List A, Gore SD, Seymour JF, Bennett JM, Byrd J, Backstrom J, Zimmerman L, McKenzie D, Beach CL, Silverman LR, International Vidaza High-Risk MDS Survival Study Group (2009) Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study. Lancet Oncol 10:223–232

    Google Scholar 

  147. Raj K, John A, Ho A, Chronis C, Khan S, Samuel J, Pomplun S, Thomas NSB, Mufti GJ (2007) CDKN2B methylation status and isolated chromosome 7 abnormalities predict responses to treatment with 5-azacytidine. Leukemia 21:1937–1944

    Article  PubMed  CAS  Google Scholar 

  148. Rüter B, Wijermans P, Claus R, Kunzmann R, Lübbert M (2007) Preferential cytogenetic response to continuous intravenous low-dose decitabine (DAC) administration in myelodysplastic syndrome with monosomy 7. Blood 110:1080–1082

    Article  PubMed  Google Scholar 

  149. Sloand EM, Yong ASM, Ramkissoon S, Solomou E, Bruno TC, Kim S, Fuhrer M, Kajigaya S, Barrett AJ, Young NS (2006) Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. Proc Natl Acad Sci U S A 103:14483–14488

    Article  PubMed  CAS  Google Scholar 

  150. Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, Pinto A, Beran M, de Witte TM, Stone RM, Mittelman M, Sanz GF, Gore SD, Schiffer CA, Kantarjian H (2006) Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood 108:419–425

    Article  PubMed  CAS  Google Scholar 

  151. Giagounidis AAN, Germing U, Strupp C, Hildebrandt B, Heinsch M, Aul C (2005) Prognosis of patients with del(5q) MDS and complex karyotype and the possible role of lenalidomide in this patient subgroup. Ann Hematol 84:569–571

    Article  PubMed  CAS  Google Scholar 

  152. Maciejewski JP, Mufti GJ (2008) Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood 112:965–974

    Article  PubMed  CAS  Google Scholar 

  153. Lübbert M, Wijermans P, Kunzmann R, Verhoef G, Bosly A, Ravoet C, Andre M, Ferrant A (2001) Cytogenetic responses in high-risk myelodysplastic syndrome following lowdose treatment with the DNA methylation inhibitor 5-aza-2′-deoxycytidine. Br J Haematol 114:349–57

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Abteilung Hämatologie/Onkologie, Georg-August-Universität Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany

    Detlef Haase, Christina Ganster, Katayoon Shirneshan, Friederike Braulke & Julie Schanz

  2. Department of Pathology, British Columbia Cancer Agency, 600 W 10th Avenue, V5Z 4E6, Vancouver, BC, Canada

    Christian Steidl

Authors
  1. Detlef Haase
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christina Ganster
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Christian Steidl
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Katayoon Shirneshan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Friederike Braulke
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Julie Schanz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Detlef Haase .

Editor information

Editors and Affiliations

  1. , 3rd Department of Internal Medicine, Semmelweis University, Kútvölgyi út 4, Budapest, 1125, Hungary

    Judit Várkonyi

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer Science+Business Media B.V.

About this chapter

Cite this chapter

Haase, D., Ganster, C., Steidl, C., Shirneshan, K., Braulke, F., Schanz, J. (2011). Cytogenetics of MDS. In: Várkonyi, J. (eds) The Myelodysplastic Syndromes. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0440-4_5

Download citation

Publish with us

Policies and ethics

Search

Navigation