Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Article
  • Published:

Myelodysplasias

Myelodysplastic syndrome with chromosome 5 abnormalities: a nationwide survey in Japan

Abstract

Chromosome 5 abnormalities, deletion of the long arm of chromosome 5 (del(5q)) or monosomy 5 (−5), arise in about 10% of myelodysplastic syndromes (MDS), either as the sole cytogenetic abnormality or as part of complicated karyotype, and has distinct clinical implications for MDS. However, the prognostic factors of MDS patients with chromosome 5 abnormalities are not determined yet. In this study, 183 Japanese MDS patients with chromosome 5 abnormalities were analyzed. Estimated incidence of del(5q) and 5q- syndrome among MDS patients was 8.4 and 1.3%, respectively. Significant shorter overall survival (OS) and leukemia-free survival (LFS) were observed in −5 patients than del(5q) patients. Among del(5q) patients, addition of monosomy 7 or complex karyotype with more than three abnormalities were significantly related to shorter OS.

LFS of del(5q) patients was divided into two risk groups by international prognostic scoring system (IPSS): low/intermediate (Int)-1 and Int-2/high groups. LFS sorted by World Health Organization classification-based prognostic scoring system (WPSS) was also divided into two groups: very low/low/Int and high/very high, and WPSS was able to predict the outcome of del(5q) patients more clearly than IPSS.

Together with additional cytogenetic data, WPSS might be useful for clinical decision making in MDS patients with del(5q).

This is a preview of subscription content, access via your institution

Access options

Buy this article

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2
Figure 3

Similar content being viewed by others

References

  1. Nimer SD, Golde DW . The 5q- abnormality. Blood 1987; 70: 1705–1712.

    CAS  PubMed  Google Scholar 

  2. Van den Berghe H, Michaux L . 5q-, twenty-five years later: a synopsis. Cancer Genet Cytogenet 94: 1–7.

  3. Giagounidis AA, Germing U, Haase S, Hildebrandt B, Schlegelberger B, Schoch C et al. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia 2004; 18: 113–119.

    Article  CAS  PubMed  Google Scholar 

  4. Giagounidis AA, Germing U, Wainscoat JS, Boultwood J, Aul C . The 5q- syndrome. Hematology 2004; 9: 271–277.

    Article  CAS  PubMed  Google Scholar 

  5. Van den Berghe H, Cassiman JJ, David G, Fryns JP, Michaux JL, Sokal G . Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature 1974; 251: 437–438.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  7. Malcovati L, Porta MG, Pascutto C, Invernizzi R, Boni M, Travaglino E et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol 2005; 23: 7594–7603.

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  9. 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 

  10. Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J et al. World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. J Clin Oncol 1999; 17: 3835–3849.

    Article  CAS  PubMed  Google Scholar 

  11. Malcovati L, Germing U, Kuendgen A, Porta D, Pascutto C, Inverinizzi R et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol 2007; 25: 3503–3510.

    Article  PubMed  Google Scholar 

  12. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51: 189–199.

    Article  CAS  PubMed  Google Scholar 

  13. Dastugue N, Payen C, Lafage-Pochitaloff M, Bernard P, Leroux D, Huguet-Rigal F et al. Prognostic significance of karyotype in de novo adult acute myeloid leukemia. The BGMT group. Leukemia 1995; 9: 1491–1498.

    CAS  PubMed  Google Scholar 

  14. Mauritzson N, Johansson B, Albin M, Rylander L, Billstrom R, Ahlgren T et al. Survival time in a population-based consecutive series of adult acute myeloid leukemia—the prognostic impact of karyotype during the time period 1976–1993. Leukemia 2000; 14: 1039–1043.

    Article  CAS  PubMed  Google Scholar 

  15. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children′s Leukaemia Working Parties. Blood 1998; 92: 2322–2333.

    CAS  PubMed  Google Scholar 

  16. Hasle H, Alonzo TA, Auvrignon A, Behar C, Chang M, Creutzig U et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood 2007; 109: 4641–4647.

    Article  CAS  PubMed  Google Scholar 

  17. 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.

    CAS  PubMed  Google Scholar 

  18. Toyama K, Ohyashiki K, Yoshida Y, Abe T, Asano S, Hirai H et al. Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan. Leukemia 1993; 7: 499–508.

    CAS  PubMed  Google Scholar 

  19. Jacobs RA, Cornbleet M, Vardiman J, Larson R, LeBeau MM, Rowley JD . Prognostic implications of morphology and karyotype in primary myelodysplastic syndromes. Blood 1986; 67: 1765–1772.

    CAS  PubMed  Google Scholar 

  20. 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 leukaemia. Br J Haematol 1988; 68: 189–194.

    Article  CAS  PubMed  Google Scholar 

  21. Pierre R, Catovsky D, Mufti G, Swansbury G, Mecucci C, Dewald GW et al. Clinical cytogenetic correlations in myelodysplasia (preleukemia). Cancer Genet Cytogenet 1989; 40: 149–161.

    Article  CAS  PubMed  Google Scholar 

  22. Samuels BL, Larson RL, LeBeau MM, Daly KM, Bitter MA, Vardiman JW et al. Specific chromosomal abnormalities in acute nonlymphocytic leukemia correlate with drug susceptibility in vivo. Leukemia 1988; 2: 79–83.

    CAS  PubMed  Google Scholar 

  23. Kardos G, Baumann I, Passmore SJ, Locatelli F, Hasle H, Schultz KR et al. Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7. Blood 2003; 102: 1997–2003.

    Article  CAS  PubMed  Google Scholar 

  24. Lee JH, Lee JH, Shin YR, Lee JS, Kim WK, Chi HS et al. Application of different prognostic scoring systems and comparison of the FAB and WHO classifications in Korean patients with myelodysplastic syndrome. Leukemia 2003; 17: 305–313.

    Article  PubMed  Google Scholar 

  25. Chen B, Zhao WL, Jin J, Xue YQ, Cheng X, Chen XT et al. Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries. Leukemia 2005; 19: 767–775.

    Article  CAS  PubMed  Google Scholar 

  26. Sokal G, Michaux JL, van den Berghe H, Cordier A, Rodhain J, Ferrantr A et al. A new hematologic syndrome with a distinct karyotype: the 5q- chromosome. Blood 1975; 46: 519–533.

    CAS  PubMed  Google Scholar 

  27. Dewald GW, Davis MP, Pierre RV, O'Fallon JR, Hoagland HC . Clinical characteristics and prognosis of 50 patients with a myeloproliferative syndrome and deletion of part of the long arm of chromosome 5. Blood 1985; 66: 189–197.

    CAS  PubMed  Google Scholar 

  28. Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B et al. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood 2007; 110: 4385–4395.

    Article  CAS  PubMed  Google Scholar 

  29. Malcovati L, Porta MG, Pascutto C, Invernizzi R, Boni M, Travaglino E et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol 2005; 23: 7594–7603.

    Article  PubMed  Google Scholar 

  30. List AF, Baker AF, Green S, Bellamy W . Lenalidomide: targeted anemia therapy for myelodysplastic syndromes. Cancer Control 2006; 13: 4–11.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We greatly thank the hospitals that provided patient data as described in the Supplementary Information, and also thank Ms Aki Tochigi for the paper preparation. This study was supported by the grant of the Japanese Cooperative Study Group for Intractable Bone Marrow Diseases, Ministry of Health, Labor and Welfare of Japan.

Author information

Authors and Affiliations

Consortia

Corresponding author

Correspondence to K Tohyama.

Additional information

Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tasaka, T., Tohyama, K., Kishimoto, M. et al. Myelodysplastic syndrome with chromosome 5 abnormalities: a nationwide survey in Japan. Leukemia 22, 1874–1881 (2008). https://doi.org/10.1038/leu.2008.199

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/leu.2008.199

Keywords

This article is cited by

Search

Quick links