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Identification of a rare e6a2 BCR-ABL fusion gene during the disease progression of chronic myelomonocytic leukemia: a case report

Leukemia volume 18, pages 1735–1736 (2004)Cite this article

TO THE EDITOR

A 64-year-old female patient was referred to our department in July 2001 for a thrombocytosis at 622 × 109/l and a monocytosis at 1.9 × 109/l discovered on a systematic peripheral blood analysis. Other leukocyte subsets counts and hemoglobin level were normal. Hepatosplenomegaly and lymphadenopathy were absent. At that time, the bone marrow morphology was considered as normal. A second bone marrow aspirate performed on March 2002 displaying myelodysplastic features associated with 15% of monocytes, consistent with the diagnosis of CMML. Standard cytogenetics by Giemsa banding showed a normal karyotype (46,XX[20]) in two bone marrow samples performed during the first 2 years following diagnosis. Hydroxyurea was introduced in September 2003 because of WBC count elevation at 36 × 109/l with the presence of a small percentage of promyelocytes, metamyelocytes, and myelocytes, and presence of a splenomegaly. A new chromosomal analysis performed on peripheral blood on November 2003 showed the following karyotype: 46,XX,t(9;22)(q34;q11), t(11;16)(p12;q21)[10]/46,XX[15]. The pronostic Sokal and the Hasford scores at onset of Ph1 chromosome were intermediate at 1.03 and 1087.7, respectively. A treatment with imatinib was started in December 2003 at 400 mg/day allowing stable CML complete hematologic response to date with normalized platelet counts, no splenomegaly, and 5% myelemia. Retrospective interphase Fluorescence in situ hybridisation (FISH) analysis performed with dual color probes for BCR and ABL genes (LSI bcr/abl ES Dual Color Translocation Probe (VYSIS)) on the two bone marrow samples (which had shown a normal karyotype during the first two years of the CMML) did not detect the BCR/ABL fusion gene over 500 interphase nuclei. FISH analysis performed with the same probe at the time of apparition of chromosomal abnormalities showed a typical M-bcr picture (data not shown) in five metaphases and 50 interphase nuclei with 50 normal nuclei.

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Acknowledgements

This work was supported by the Hospices Civils de Lyon. We thank Annick Bertholin and Christophe Ollagnier for technical assistance.

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Authors and Affiliations

  1. Laboratoire d'hématologie et de cytogénétique, Centre Hospitalier Lyon Sud, Pierre-Benite, France

    S Hayette, I Tigaud, M French & J P Magaud

  2. EA3737, Université Claude Bernard, Pierre-Benite, France

    S Hayette, M French & J P Magaud

  3. Service d'Hématologie Clinique, Hôpital Ed Herriot, Lyon, France

    X Thomas, F Nicolini & M Michallet

  4. Service d'Hématologie, Centre Hospitalier de Bourg en Bresse, France

    M C Perrin

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Correspondence to S Hayette.

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Hayette, S., Tigaud, I., Thomas, X. et al. Identification of a rare e6a2 BCR-ABL fusion gene during the disease progression of chronic myelomonocytic leukemia: a case report. Leukemia 18, 1735–1736 (2004). https://doi.org/10.1038/sj.leu.2403476

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