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Molecular detection of AML1-MTG8-positive cells in peripheral blood from a patient with isolated extramedullary relapse of t(8;21) acute myeloid leukemia

Leukemia volume 23, pages 424–426 (2009)Cite this article

A few studies have reported that AML1-MTG8 expression levels in bone marrow (BM) are 1- to 3-log higher than those in peripheral blood (PB) when detected by quantitative PCR methods in acute myeloid leukemia (AML) with the t(8;21) translocation.1, 2, 3 However, the relationship between BM and PB is retained at any time during the clinical course is unknown. Here we present a patient with t(8;21) AML who demonstrated isolated ovarian relapse after allogeneic BM transplantation (BMT). AML1-MTG8 chimeric transcripts could be repeatedly detected in both BM and PB during the clinical course. Moreover, the AML1-MTG8 expression levels detected by real-time quantitative (RQ)-PCR methods in PB were higher than those in BM before and at the time of the extramedullary relapse (EMR). Thus, we propose that the presence of EMR is responsible for repeated detection of minimal residual disease (MRD) and discuss the clinical significance of different AML1-MTG8 expression levels between BM and PB for the diagnosis of isolated EMR.

A 22-year-old woman was diagnosed with AML (French-American-British (FAB) subtype M2) with thoracic vertebrae involvement in March 1998. Cytogenetic evaluation revealed the t(8;21)(q22;q22) chromosomal translocation. She achieved complete remission (CR) with induction chemotherapy and radiotherapy; however, in December 1998 she had a BM relapse, involving the thoracic vertebrae and the spine. Salvage chemotherapy reduced the total number of leukemic blasts in BM to below 5%. In March 1999, she underwent BMT from her HLA-2-antigen-mismatched/haploidentical sister at Osaka University Hospital. A total of 3.0 × 108 per kg unmanipulated nucleated cells were infused. The transplant protocol consisted of a high dose of cytarabine and cyclophosphamide and total body irradiation (12 Gy), followed by a short course of methotrexate, tacrolimus and methylprednisolone (2 mg/kg) for graft-versus-host disease (GVHD) prophylaxis. The patient achieved an absolute neutrophil count above 0.5 × 109 per liter on day 20. The last platelet transfusion was performed on day 125. CR and complete donor chimerism was confirmed by a BM examination on day 24. No acute GVHD developed.

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Authors and Affiliations

  1. Division of Hematology, Department of Internal Medicine, Hyogo College of Medicine, Hyogo, Japan

    H Tamaki, S Yoshihara, T Fujioka & H Ogawa

  2. Department of Medicine, National Hospital Organization, Osaka Minami Medical Center, Osaka, Japan

    M Kawakami

  3. Department of Respiratory Medicine, Allergy and Rheumatic Diseases, Osaka University Graduate School of Medicine, Osaka, Japan

    Y Oka

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  1. H Tamaki
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Correspondence to H Tamaki.

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Tamaki, H., Yoshihara, S., Fujioka, T. et al. Molecular detection of AML1-MTG8-positive cells in peripheral blood from a patient with isolated extramedullary relapse of t(8;21) acute myeloid leukemia. Leukemia 23, 424–426 (2009). https://doi.org/10.1038/leu.2008.220

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