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A case of acute myeloblastic leukemia with a novel variant of t(8;21)(q22;q22)

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Abstract

We encountered a case of acute myeloblastic leukemia (AML), with extramedullary leukemia (EML) and a masked type of the variant translocation t(8;21)(q22;q22). Morphologically, the AML M2 subtype according to the French–American–British (FAB) classification was present. Phenotypically, leukemic cells were negative for CD19 and positive for CD56. Clinically, the case showed chemo-refractoriness and a poor outcome. The initial karyotypic interpretation was t(8;9)(q22;q34) on G-banding. Multiplex-fluorescence in situ hybridization (multiplex-FISH) analysis revealed a three-way translocation involving chromosomes 8, 9, and 21, and identified a masked type of variant t(8;21)q22;q22) translocation. The karyotype was finally determined as 45,X,-Y,der(8)t(8;21)(q22;q22), der(9)(8;9)(q22;q34), and der(21)t(9;21)(q34;q22). Results of FISH using the AML1/ETO probe and detection of the AML1/ETO fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) support the karyotype as well as the sequence of the PCR product. Additionally, C-KIT mutation was detected.

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Authors and Affiliations

  1. Division of Hematology and Oncology, Suzuka General Hospital, Suzuka, Japan

    Keiki Kawakami, Yasuyuki Watanabe, Makoto Nakao & Hidetsugu Mitani

  2. Department of Hematology and Oncology, Mie University School of Medicine, Tsu, Japan

    Kazuhiro Nishii, Ryuu Hyou & Fumihiko Monma

  3. Division of Pathology and Clinical Laboratories, Suzuka General Hospital, Suzuka, Japan

    Tetsuya Murata

  4. Mitsubishi Kagaku Bio-Clinical Laboratories, Inc, Tokyo, Japan

    Shunji Yamamori & Noboru Hosokai

  5. Department of Hematology and Oncology, St Marianne University School of Medicine, Kawasaki, Japan

    Ikuo Miura

  6. Division of Hematology, Suzuka General Hospital, 1275-53, Yasuzuka-cho, Suzuka-shi, Mie, Japan

    Keiki Kawakami

Authors
  1. Keiki Kawakami
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  2. Kazuhiro Nishii
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  3. Ryuu Hyou
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  4. Yasuyuki Watanabe
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  5. Makoto Nakao
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  6. Hidetsugu Mitani
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  7. Tetsuya Murata
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  8. Fumihiko Monma
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  9. Shunji Yamamori
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  10. Noboru Hosokai
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  11. Ikuo Miura
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Corresponding author

Correspondence to Keiki Kawakami.

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Kawakami, K., Nishii, K., Hyou, R. et al. A case of acute myeloblastic leukemia with a novel variant of t(8;21)(q22;q22). Int J Hematol 87, 78–82 (2008). https://doi.org/10.1007/s12185-007-0010-2

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  • DOI: https://doi.org/10.1007/s12185-007-0010-2

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