Advertisement

Cytogenetics in Myelodysplastic Syndromes

Protocol
First Online:
Part of the Methods in Molecular Biology book series (MIMB, volume 730)

Abstract

Cytogenetic information in patients with myelodysplastic syndrome (MDS) is important in predicting prognosis and therapeutic direction. In MDS, the detection of numerical type abnormalities, either whole chromosome or partial chromosomal segments, is important. In general, conventional banding chromosome analysis is useful in detecting chromosome changes in MDS and is able to predict prognosis. More recently, uniparental disomy at various loci has been found in some MDS patients and target genes located within the deleted chromosome regions; these deletions are either cytogenetically detectable resulting in partial monosomy, or cryptic. Further therapeutic approaches for MDS patients may require more precise cytogenetic information in the near future.

Key words

Cytogenetic analysis Myelodysplastic syndromes Deletion Monosomy Trisomy Prognosis Uniparental disomy 
This is a preview of subscription content, log in to check access.

Notes

Acknowledgements

The authors are indebted to Prof. J. Patrick Barron of the Department of International Medical Communications of Tokyo Medical University for his review of this manuscript.

References

  1. 1.
    Brunning, R.D., Bennett, J.M., Flandrin, G., Matutes, E., Head, D., Vardiman, J.W., and Harris, N.L. (2001) Myelodysplastic syndromes. In: World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues (Eds. Jaffe, E.S., Harris, N.L., Stein, H., and Vardiman, J.W.), pp 61–73, IARC Press: Lyon.Google Scholar
  2. 2.
    Brunning, R.D., Orazi, A., Germing, U., Le Beau, M.M., Porwit, A., Bauman, I., Vardiman, J.W., and Hellstrom-Lindberg, E. (2008) Myelodysplastic syndromes. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Eds. Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., Stein, H., Thiele, J., and Vardiman, J.W.), pp 87–107, IARC Press: Lyon.Google Scholar
  3. 3.
    Olney, H.J. and Le Beau, M.M. (2007) Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes. Leuk Res 31,427–34.PubMedCrossRefGoogle Scholar
  4. 4.
    Haase, D. (2008) Cytogenetic features in myelodysplastic syndromes. Ann Hematol 87, 515–26.PubMedCrossRefGoogle Scholar
  5. 5.
    Bernasconi, P., Boni, M., Cavigliano, P.M., Calatroni, S., Giardini, I., Rocca, B., Zappatore, R., Dambruoso, I., and Caresana, M. (2006) Clinical relevance of cytogenetics in myelodysplastic syndromes. Ann NY Acad Sci 1089, 395–410.PubMedCrossRefGoogle Scholar
  6. 6.
    Panani, A.D. and Roussos, C. (2006) Cytogenetic aspects of adult primary myelodysplastic syndromes: clinical implications­. Cancer Lett 235, 177–90.PubMedCrossRefGoogle Scholar
  7. 7.
    Steensma, D.P. and List, A.F. (2005) Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity. Mayo Clin Proc 80, 681–98.PubMedCrossRefGoogle Scholar
  8. 8.
    Nimer, S.D. (2006) Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. J Clin Oncol 24, 2576–82.PubMedCrossRefGoogle Scholar
  9. 9.
    Campbell, L.J. and Garson, O.M. (1994) The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. Leukemia 8, 67–71.PubMedGoogle Scholar
  10. 10.
    Van den Berghe, H., Cassiman, J.J., David, G., Fryns, J.P., Michaux, J.L., and Sokal, G (1974) Distinct haematological disorder with deletion of the long arm of no. 5 chromosome. Nature 251, 437.PubMedCrossRefGoogle Scholar
  11. 11.
    Boultwood, J., Lewis, S., and Wainscoat, J.S. (1994) The 5q-syndrome. Blood 84, 3253–60.PubMedGoogle Scholar
  12. 12.
    Liu, T.X., Becker, M.W., Jelinek, J., Wu, W.S., Deng, M., Mikhalkevich, N., Hsu, K., Bloomfield, C.D., Stone, R.M., DeAngelo, D.J., Galinsky, I.A., Issa, J.P., Clarke, M.F., and Look, A.T. (2007) Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nat Med 13, 78–83.PubMedCrossRefGoogle Scholar
  13. 13.
    Joslin, J.M., Fernald, A.A., Tennant, T.R., Davis, E.M., Kogan, S.C., Anastasi, J., Crispino, J.D., and Le Beau, M.M. (2007) Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders. Blood 110, 719–26.PubMedCrossRefGoogle Scholar
  14. 14.
    Zou, Y.S., Fink, S.R., Stockero, K.J., Paternoster, S.F., Smoley, S.A., Tun, H.W., Reeder, C.B., Tefferi, A., and Dewald, D.W. (2007) Efficacy of conventional cytogenetics and FISH for EGR1 to detect deletion 5q in hematological disorders and to assess response to treatment with Lenalidomide. Leuk Res 31, 1185–9PubMedCrossRefGoogle Scholar
  15. 15.
    Gondek, L.P., Haddad, A.S., O’Keefe, C.L., Tiu, R., Wlodarski, M.W., Sekeres, M.A., Theil, K.S., and Maciejewski, J.P. (2007) Detection of cryptic chromosomal lesions including acquired segmental uniparental disomy in advanced and low-risk myelodysplastic syndromes. Exp Hematol 35, 1728–38.PubMedCrossRefGoogle Scholar
  16. 16.
    Gondek, L.P., Tiu, R., O’Keefe, C.L., Sekeres, M.A., Theil, K.S., and Maciejewski, J.P. (2008) Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 111, 1534–42.PubMedCrossRefGoogle Scholar
  17. 17.
    Toyama, K., Ohyashiki, K., Yoshida, Y., Abe, T., Asano, S., Hirai, H., Hirashima, K., Hotta, T., Kuramoto, A., Kuriya, S., et al. (1993) Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan. Leukemia 7, 499–508.PubMedGoogle Scholar
  18. 18.
    Morel, P., Hebbar, M., Lai, J.L., Duhamel, A., Preudhomme, C., Wattel, E., Bauters, F., and 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, 1315–23.PubMedGoogle Scholar
  19. 19.
    Greenberg, P., Cox, C., LeBeau, M.M., Fenaux, P., Morel, P., Sanz, G., Sanz, M., Vallespi, T., Hamblin, T., Oscier, D., Ohyashiki, K., Toyama, K., Aul, C., Mufti, G., and Bennett, J. (1997) International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 89, 2079–88.PubMedGoogle Scholar
  20. 20.
    Malcovati, L., Porta, M.G., Pascutto, C., Invernizzi, R., Boni, M., Travaglino, E., Passamonti, F., Arcaini, L., Maffioli, M., Bernasconi, P., Lazzarino, M., and Cazzola, M. (2005) Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol 23, 7594–603.PubMedCrossRefGoogle Scholar
  21. 21.
    Slovak, M.L. and Dewald, G.W. (2008) International Working Group on MDS cytogenetics: October 2007 meeting report. Leuk Res 32, 1329–32.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.First Department of Internal MedicineTokyo Medical UniversityTokyoJapan

Personalised recommendations

Cite protocol

Buy options