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A novel BCR-ABL fusion transcript (e18a2) in a child with chronic myeloid leukemia

Leukemia volume 21, pages 833–835 (2007)Cite this article

The vast majority of patients with chronic myelogeneous leukemia (CML) (>95%) has a breakpoint in the M-bcr, resulting in b3-a2, b2-a3, b2-a2 or b3-a3 fusion gene transcripts and the associated p210 BCR-ABL protein.1 In rare cases of CML, the breakpoint in BCR is located in the m-bcr, resulting in an e1-a2 or e1-a3 fusion gene transcript and associated p190 protein or in the μ-bcr region, resulting in an e19-a2 fusion gene transcript and the associated p230 protein. Some unusual breakpoints have been described in CML as well, including cases with transcripts derived from fusion genes in which the breaks are located within exons and cases with transcripts in which intronic sequences are inserted.1 Here, we present a 16-year old girl with CML who showed a new type of fusion gene transcript, containing part of BCR exon 18 linked to ABL exon 2, with insertion of 10 nucleotides from intron 1b at the joining site.

A 16-year old girl was admitted to the hospital because of fatigue, headache and visual abnormalities. Liver and spleen enlargement were found at physical examination. Laboratory investigation showed a hemoglobin of 4 mmol/l, a white blood cell count (WBC) of 399 × 109/l and a platelet count of 698 × 109/l. Morphologic evaluation of peripheral blood showed 4% basophils, 3% eosinophils, <1% monocytes, 2% lymphocytes, 5% blasts and 86% myeloid cells at different stages of maturation. The Sokal score was 1.57 (high risk) and the Euro score was 1459 (intermediate risk). Karyotyping showed 46,XX,t(9;22)(q34;q11) in all metaphases. The presence of a BCR-ABL fusion gene was confirmed with FISH (BCR/ABL ES probe set, Vysis). In addition, an accompanying deletion of a part of ABL was detected in the der(9)t(9;22) by this assay. Based on these findings, a diagnosis of CML in chronic phase was established.

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Acknowledgements

We thank Marieke Comans-Bitter for preparation of the figure and dr. Floor Weerkamp and Karin Brouwer-de Cock for performing the protein analysis.

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Authors and Affiliations

  1. Department of Immunology Erasmus MC, Rotterdam, The Netherlands

    V H J van der Velden & P G Hoogeveen

  2. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

    H B Beverloo

  3. Department of Pediatric Oncology, Erasmus MC, Rotterdam, The Netherlands

    Ch M Zwaan

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  1. V H J van der Velden
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  2. H B Beverloo
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Correspondence to V H J van der Velden.

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van der Velden, V., Beverloo, H., Hoogeveen, P. et al. A novel BCR-ABL fusion transcript (e18a2) in a child with chronic myeloid leukemia. Leukemia 21, 833–835 (2007). https://doi.org/10.1038/sj.leu.2404580

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