Skip to main content

Advertisement

SpringerLink
Log in

Acute Myeloid Leukemia (FAB-M2) with a Masked Type of t(8;21) Translocation Revealed by Spectral Karyotyping

  • Case Report
  • Published:
International Journal of Hematology Aims and scope Submit manuscript

Abstract

We report a case of acute myeloid leukemia (AML), M2 subtype according to the French-American-British (FAB) classification, with extramedullary myeloblastoma of the uterus and a masked type of variant translocation of t(8;21)(q22;q22). A 45-year-old Japanese woman presented with metrorrhagia, and AML (M2) with uterine invasion was diagnosed. The patient received an allogeneic peripheral blood stem cell transplantation after remission, and her pelvis was irradiated locally. Cytogenetic study at first showed t(8;17)(q22;p13) by G-banding. Spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8, 17, and 21 and identified a masked type of variant t(8;21)(q22;q22) translocation. Results of fluorescence in situ hybridization using theAML1/ETO probe, and of detection of theAML1/ETO fusion transcript by reverse transcriptase—polymerase chain reaction were consistent with the karyotyping result. SKY analysis is useful to compensate for the limitations of cytogenetic studies.Int J Hematol. 2002;76:338-343.

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

Similar content being viewed by others

References

  1. Rowley JD. Recurring chromosome abnormalities in leukemia and lymphoma.Semin Hematol. 1990;27:122–136.

    CAS  PubMed  Google Scholar 

  2. Mitelman F, Heim S. Quantitative acute leukemia cytogenetics.Genes Chromosomes Cancer. 1992;5:57–66.

    Article  CAS  PubMed  Google Scholar 

  3. Bennett JM, Catovsky D, Daniel MT, et al. Proposed revised criteria for the classification of acute myeloid leukemia: a report of the French-American-British Cooperative Group.Ann Intern Med. 1985;103:620–625.

    Article  CAS  PubMed  Google Scholar 

  4. Erickson PF, Dessev G, Lasher RS, Philips G, Robinson M, Drabkin HA. ETO and AML1 phosphoproteins are expressed in CD34+ hematopoietic progenitors: implications for t(8;21) leukemogenesis and monitoring residual disease.Blood. 1996;88: 1813–1823.

    CAS  PubMed  Google Scholar 

  5. Miyoshi H, Kozu T, Shimizu K, et al. The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript.EMBO J. 1993;12:2715–2721.

    Article  PubMed Central  CAS  Google Scholar 

  6. Kurokawa M, Tanaka T, Tanaka K, et al. A conserved cysteine residue in the runt homology domain of AML1 is required for the DNA binding ability and the transforming activity on fibroblasts.J Biol Chem. 1996;271:16870–16876.

    Article  CAS  PubMed  Google Scholar 

  7. Harris NL, Jaffe ES, Diebold J, et al. The World Health Organization classification of hematological malignancies report of the Clinical Advisory Committee Meeting, Airlie house, Virginia, November 1997.Mod Pathol. 2000;13:193–207.

    Article  CAS  PubMed  Google Scholar 

  8. Swirsky DM, Li YS, Matthews JG, Flemans RJ, Rees JKH, Hayhoe FGJ. 8:21 translocation in acute granulocytic leukemia: cytological, cytochemical and clinical features.Br J Haematol. 1984;56:119–213.

    Article  Google Scholar 

  9. Veldman T,Vignon C, SchrÖck E, Rowley JD, Ried T. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping.Nat Genet. 1997;15:406–410.

    Article  CAS  PubMed  Google Scholar 

  10. Kakazu N, Taniwaki M, Horiike S, et al. Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.Genes Chromosomes Cancer. 1999; 26:336–345.

    Article  CAS  PubMed  Google Scholar 

  11. Kakazu N, Kito K, Hitomi T, et al. Characterization of complex chromosomal abnormalities in B-cell lymphoma by a combined spectral karyotyping (SKY) analysis and fluorescence in situ hybridization (FISH) using a 14q telomere probe.Am J Hematol. 2000;65:291–297.

    Article  CAS  PubMed  Google Scholar 

  12. Hirai K, Torimoto Y, Moriichi K, et al. Discordant expression of myeloid antigens and myeloperoxidase in a case of t(8;21) positive AML expressing CD7.Int J Hematol. 1999;70:30–35.

    CAS  PubMed  Google Scholar 

  13. Hoshida Y, Hongyo T, Nakatsuka S, et al. Gene mutations in lymphoproliferative disorders of T and NK/T cell phenotypes develop- ing in renal transplant patients.Lab Invest. 2002;82:257–264.

    Article  CAS  PubMed  Google Scholar 

  14. Byrd JC, Edenfield WJ, Shields DJ, Dawson NA. Extramedullary myeloid cell tumors in acute nonlymphocytic leukemia: a clinical review.J Clin Oncol. 1995;13:1800–1816.

    Article  CAS  PubMed  Google Scholar 

  15. Iizuka Y, Aiso M, Oshimi K, et al. Myeloblastoma formation in acute myeloid leukemia.Leuk Res. 1992;16:665–671.

    Article  CAS  PubMed  Google Scholar 

  16. Baer MR, Stewart CC, Lawrence D, et al. Expression of the neural cell adhesion molecule CD56 is associated with short remission duration and survival in acute myeloid leukemia with t(8;21) (q22;q22).Blood. 1997;90:1643–1648.

    CAS  PubMed  Google Scholar 

  17. Byrd JC, Weiss RB, Arthur DC, et al. Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22): results from Cancer and Leukemia Group B 8461.J Clin Oncol. 1997;15:466–475.

    Article  CAS  PubMed  Google Scholar 

  18. Tallman MS, Hakimian D, Shaw JM, Lissner GS, Russell EJ, Variakojis D. Granulocytic sarcoma is associated with the 8;21 translocation in acute myeloid leukemia.J Clin Oncol. 1993;11:690–697.

    Article  CAS  PubMed  Google Scholar 

  19. Kyo T. Characteristic clinical features and treatment of acute myelocytic leukemia with 8;21 translocation [in Japanese].Jpn J Clin Hematol. 1994;35:245–249.

    CAS  Google Scholar 

  20. Yamada K, Furusawa S. Preferential involvement of chromosomes no. 8 and no. 21 in acute leukemia and preleukemia.Blood. 1976; 47:679–686.

    CAS  PubMed  Google Scholar 

  21. Jonveaux P, Fenaux P, Quiquandon I, et al. Mutations in the p53 gene in myelodysplastic syndromes.Oncogene. 1991;6:2243–2247.

    CAS  PubMed  Google Scholar 

  22. Lai JL, Preudhomme C, Zandecki M, et al. Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoïesis and a high incidence of P53 mutations.Leukemia. 1995;9:370–381.

    CAS  PubMed  Google Scholar 

  23. Soenen V, Preudhomme C, Roumier C, Daudignon A, Laü JL, Fenaux P. 17p deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ.Blood. 1998;91:1008–1015.

    CAS  PubMed  Google Scholar 

  24. Nigro JM, Baker SJ, Preisinger AC, et al. Mutations in the p53 gene occur in diverse human tumour types.Nature. 1989;342:705–708.

    Article  CAS  PubMed  Google Scholar 

  25. Hollstein M, Sidransky D, Vogelstein B, Harris CC. p53 mutations in human cancers.Science. 1991;253:49–53.

    Article  CAS  PubMed  Google Scholar 

  26. Saitoh K, Miura I, Ohshima A, et al. Translocation (8;12;21) (q22.1;q24.1;q22.1): a new masked type of t(8;21)(q22;q22) in a patient with acute myeloid leukemia.Cancer Genet Cytogenet. 1997;96:111–114.

    Article  CAS  PubMed  Google Scholar 

  27. Harrison CJ, Radford-Weiss I, Ross F, et al. Fluorescence in situ hybridization analysis of masked (8;21)(q22;q22) translocations.Cancer Genet Cytogenet. 1999;112:15–20.

    Article  CAS  PubMed  Google Scholar 

  28. Mohr B, Bornhäuser M, Thiede C, et al. Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome.Leukemia. 2000;14:1031–1038.

    Article  CAS  PubMed  Google Scholar 

  29. Hilgenfeld E, Padilla-Nash H, McNeil N, et al. Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2.Br J Haematol. 2001;113:305–317.

    Article  CAS  PubMed  Google Scholar 

  30. Kerndrup GB, Kjeldsen E. Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.Cancer Genet Cytogenet. 2001;124:7–11.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Second Department of Internal Medicine, Faculty of Medicine, University of the Ryukyus, 207 Uehara Nishihara, 903-0215, Okinawa, Japan

    Jun-ichi Miyagi, Masato Masuda, Takashi Miyagi, Tamiko Toyohama, Tetsuro Nakazato, Takeaki Tomoyose, Tetsuharu Shinjyo, Akitoshi Nagasaki, Naoya Taira & Nobuyuki Takasua

  2. Department of Hygiene, Kyoto Prefectural University of Medicine, Kyoto

    Naoki Kakazu & Tatsuo Abe

  3. Cancer Genomics Division, National Cancer Center Research Institute, Tokyo, Japan

    Misao Ohki

Authors
  1. Jun-ichi Miyagi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Naoki Kakazu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Masato Masuda
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Takashi Miyagi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Tamiko Toyohama
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Tetsuro Nakazato
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Takeaki Tomoyose
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Tetsuharu Shinjyo
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Akitoshi Nagasaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Naoya Taira
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Misao Ohki
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Tatsuo Abe
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Nobuyuki Takasua
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jun-ichi Miyagi.

About this article

Cite this article

Miyagi, Ji., Kakazu, N., Masuda, M. et al. Acute Myeloid Leukemia (FAB-M2) with a Masked Type of t(8;21) Translocation Revealed by Spectral Karyotyping. Int J Hematol 76, 338–343 (2002). https://doi.org/10.1007/BF02982693

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02982693

Key words

Search

Navigation