Skip to main content
SpringerLink
Log in

An analysis of complex chromosomal aberrations in seven cases of myelodysplastic syndromes by M-FISH and whole chromosome painting

  • Original Article
  • Published:
International Journal of Hematology Aims and scope Submit manuscript

Abstract

Complex chromosomal aberrations (CCAs) can be detected in a substantial proportion of myelodysplastic syndrome (MDS). Comprehensive analysis of the chromosomal rearrangements in these CCAs has been hampered by the limitations of conventional cytogenetics (CC). Multiplex fluorescence in situ hybridization (M-FISH) is a new generation FISH technique which allows simultaneous identification of all the 24 human chromosomes. So it is very useful in clarifing CCAs, identifing cryptic interchromosomal rearrangements and characterizing marker chromosomes. But it also has some limitations. We used M-FISH and whole chromosome painting (WCP) to accurately refine the CCAs revealed by R-banding CC in seven cases with MDS. The composition and origin of 6 kinds of marker chromosomes, nine kinds of chromosomes with additional material undetermined and five kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis. Four kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations which most frequently involved chromosome 17 (5/7) and -5/5q-(4/7). Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP can further identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques including M-FISH and WCP can more precisely unravel CCAs.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Lee C, Gisselsson D, Jin C, Nordgren A, Ferguson DO, Blennow E, et al. Limitations of chromosome classification by multicolor karyotyping. Am J Hum Genet. 2001;68:1043–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Hematol. 1982;51:189–99.

    Article  CAS  Google Scholar 

  3. Mitelman F (ed) ISCN: an international system for human cytogenetic nomenclature. Basel: S. Karger;1995.

  4. X Yongquan (2003) Bai xue bing xi hao yi chuan xue ji tu pu. Tian jin ke xue ji shu chu ban she, 101.

  5. Schoch C, Haferlach T, Haasse D, Fonatsch C, Loffler H, Schlegelberger B, et al. Patients with de novo acute myeloid leukemia and complex karyotype aberrations show a poor prognosis despite intensive treatment: a study of 90 patients. Br J Hematol. 2001;112:118–26.

    Article  CAS  Google Scholar 

  6. 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 leukemia working parties. Blood. 1998;92:2322–33.

    CAS  PubMed  Google Scholar 

  7. Fenaux P, Morel P, Lai JL. Cytogenetics of myelodysplastic syndromes. Semin Hematol. 1996;33:127–38.

    CAS  PubMed  Google Scholar 

  8. Barcuk-Simonet E, Soenen-Cornu V, Roumier C, Cosson A, Lai J-L, Fenaux P, et al. 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. 2005;157:118–26.

    Article  Google Scholar 

  9. Limbergen HV, Poppe B, Michaux L, Herens C, Brown J, Noens L, et al. Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH. Gene Chromosome Cancer. 2002;33:60–72.

    Article  Google Scholar 

  10. Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997;100:291–304.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by Science and Research Foundation of the Ministry of Health of China (Proj. No. WKJ2005-2-025), the 135 Foundation of Jiangsu Provine (Proj. No. RC2002044).

Author information

Authors and Affiliations

  1. Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, 210029, Nanjing, China

    Jian-Yong Li, Bing Xiao, Li-Juan Chen, Wei Xu, Hai-Rong Qiu & Li Li

  2. Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 215006, Suzhou, Jiangsu, China

    Jin-Lan Pan & Yong-Quan Xue

Authors
  1. Jian-Yong Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bing Xiao
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Li-Juan Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jin-Lan Pan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Wei Xu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hai-Rong Qiu
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Li Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Yong-Quan Xue
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jian-Yong Li.

About this article

Cite this article

Li, JY., Xiao, B., Chen, LJ. et al. 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 (2008). https://doi.org/10.1007/s12185-008-0195-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12185-008-0195-z

Keywords

Search

Navigation