Leukemia Research
Volume 34, Issue 4 , Pages 447-453 , April 2010

FISH and SNP-A karyotyping in myelodysplastic syndromes: Improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)

  • Hideki Makishima

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Manjot Rataul

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Lukasz P. Gondek

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Jungwon Huh

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
    • Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, South Korea
  • ,
  • James R. Cook

      Affiliations

    • Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Karl S. Theil

      Affiliations

    • Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Mikkael A. Sekeres

      Affiliations

    • Department of Hematologic Oncology and Blood Disorders, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Elizabeth Kuczkowski

      Affiliations

    • Celgene Corporation, Summit, NJ, USA
  • ,
  • Christine O’Keefe

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
  • ,
  • Jaroslaw P. Maciejewski

      Affiliations

    • Department of Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH, USA
    • Department of Hematologic Oncology and Blood Disorders, Cleveland Clinic, Cleveland, OH, USA
    • Corresponding Author InformationCorresponding author at: Department of Translational Hematology and Oncology Research, Taussig Cancer Center/R40, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Tel.: +1 216 445 5962; fax: +1 216 636 2498.

Received 20 April 2009 ,Revised 15 August 2009 ,Accepted 17 August 2009.

References 

  1. Mufti GJ. Chromosomal deletions in the myelodysplastic syndrome. Leuk Res. 1992;16:35–41
  2. Morel P, Hebbar M, Lai JL, Duhamel A, Preudhomme C, Wattel E, et al. Cytogenetic analysis has strong independent prognostic value in de novo myelodysplastic syndromes and can be incorporated in a new scoring system: a report on 408 cases. Leukemia. 1993;7:1315–1323
  3. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079–2088
  4. Jenkins RB, Le Beau MM, Kraker WJ, Borell TJ, Stalboerger PG, Davis EM, et al. Fluorescence in situ hybridization: a sensitive method for trisomy 8 detection in bone marrow specimens. Blood. 1992;79:3307–3315
  5. Flactif M, Lai JL, Preudhomme C, Fenaux P. Fluorescence in situ hybridization improves the detection of monosomy 7 in myelodysplastic syndromes. Leukemia. 1994;8:1012–1018
  6. Paulsson K, Heidenblad M, Strombeck B, Staaf J, Jonsson G, Borg A, et al. High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia. 2006;20:840–846
  7. Evers C, Beier M, Poelitz A, Hildebrandt B, Servan K, Drechsler M, et al. Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH. Genes Chromosomes Cancer. 2007;46:1119–1128
  8. Maciejewski JP, Mufti GJ. Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood. 2008;112:965–974
  9. Cuneo A, Bigoni R, Roberti MG, Bardi A, Rigolin GM, Piva N, et al. Detection and monitoring of trisomy 8 by fluorescence in situ hybridization in acute myeloid leukemia: a multicentric study. Haematologica. 1998;83:21–26
  10. Gondek LP, Tiu R, O’Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008;111:1534–1542
  11. Tiu R, Gondek L, O’keefe C, Maciejewski JP. Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes. Leukemia. 2007;21:1648–1657
  12. Shaffer LG, Tommerup N. ISCN 2005. An International System for Human Cytogenetics Nomenclature. Basel: Karger; 2005;
  13. Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, et al. Loss of heterozygosity 4q42 and TET2 mutations associated with myelodysplatic/myeloproliferative neoplasms. Blood. 2009;113:6303–6310

PII: S0145-2126(09)00428-7

doi: 10.1016/j.leukres.2009.08.023

Leukemia Research
Volume 34, Issue 4 , Pages 447-453 , April 2010