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Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS

Leukemia volume 21, pages 2058–2061 (2007)Cite this article

In myelodysplastic syndromes (MDS) chromosomal aberrations have many clinical implications1, 2 but a significant proportion of patients do not exhibit cytogenetic abnormalities, while in some patients, cytogenetic analysis may not provide an informative result. Recently, we investigated various possibilities to improve cytogenetic diagnosis of MDS. Currently, in MDS using routine metaphase cytogenetics (MC) defects are found only in 40–60% of patients,3 and MC analysis often yields uninformative results. We will share some of the important preliminary results here.

While exploring high-density single nucleotide polymorphism DNA arrays (SNP-A) as genotyping tool, we realized that this technique can also be applied for detection of copy number (CN) changes, CN neutral loss of heterozygosity (LOH), also known as uniparental disomy (UPD), and allow for increased levels of genomic resolution. The resulting DNA-based SNP ‘karyograms’ facilitate detection of chromosome defects without the need for dividing cells as in conventional cytogenetics. We hypothesized that chromosomal changes may be present in most MDS patients, and that such a cytogenetic technique with a higher resolution will result in detection of karyotypic defects in a higher proportion of patients.

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References

  1. 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.

    CAS  PubMed  Google Scholar 

  2. Sole F, Luno E, Sanzo C, Espinet B, Sanz GF, Cervera J et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica 2005; 90: 1168–1178.

    CAS  PubMed  Google Scholar 

  3. List AF, Vardiman J, Issa JP, DeWitte TM . Myelodysplastic Syndromes. Hematology 2004; 2004: 297–317.

    Article  Google Scholar 

  4. Mori N, Morosetti R, Mizoguchi H, Koeffler HP . Progression of myelodysplastic syndrome: allelic loss on chromosomal arm 1p. Br J Haematol 2003; 122: 226–230.

    Article  Google Scholar 

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

    Article  CAS  Google Scholar 

  6. Cervantes RB, Stringer JR, Shao C, Tischfield JA, Stambrook PJ . Embryonic stem cells and somatic cells differ in mutation frequency and type. Proc Natl Acad Sci USA 2002; 99: 3586–3590.

    Article  CAS  Google Scholar 

  7. Raghavan M, Lillington DM, Skoulakis S, Debernardi S, Chaplin T, Foot NJ et al. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res 2005; 65: 375–378.

    CAS  PubMed  Google Scholar 

  8. Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S et al. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet 2005; 77: 709–726.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, USA

    L P Gondek, R Tiu, A S Haddad, C L O'Keefe & J P Maciejewski

  2. Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, USA

    M A Sekeres & J P Maciejewski

  3. Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

    K S Theil

Authors
  1. L P Gondek
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  2. R Tiu
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  3. A S Haddad
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  4. C L O'Keefe
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  7. J P Maciejewski
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Correspondence to J P Maciejewski.

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Gondek, L., Tiu, R., Haddad, A. et al. Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS. Leukemia 21, 2058–2061 (2007). https://doi.org/10.1038/sj.leu.2404745

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