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The e19a2 BCR/ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type

Leukemia volume 15, pages 2003–2004 (2001)Cite this article

The BCR/ABL fusion gene originating from a t(9;22)(q34;q11.2) chromosomal translocation is the molecular marker of chronic myeloid leukemia (CML). In the vast majority of CML cases the breakpoint on chromosome 22 falls in the so-called major breakpoint cluster region of the BCR gene (M-bcr), leading to a hybrid BCR/ABL mRNA with a b2a2 and/or b3a2 junction, which encodes a p210 fusion protein involved in the mechanism underlying the chronic phase of CML. To date, only a few cases of CML with the breakpoint in the minor (m-bcr) and micro (μ-bcr) bcr region have been described, and were associated with peculiar CML phenotypes. Indeed, the m-bcr breakpoint has been associated with classical CML with a prominent monocytic component, while the μ-bcr breakpoint which gives origin to the e19a2 transcript corresponding to the p230 fusion protein, has been associated with a mild CML phenotype. Pane et al1 proposed classifying these latter cases as neutrophilic-chronic myeloid leukemia (CML-N), a rare disease characterized by moderate and persistent neutrophilia without precursors in the peripheral smear, absent or minimal splenomegaly, normal or raised leukocyte alkaline phosphatase (LAP) score, and a benign clinical course.

However, as more patients are being described, the correlation between the e19a2 genotype and CML-N, has become less clear. To date, an e19a2 transcript has been observed in nine patients with CML in the chronic phase,1,2,3,4,5,6 but also in four with CML rapidly evolving to the blastic phase,7,8,9,10 and in one with acute myeloid leukemia (AML).11 Moreover, patients in the chronic phase also presented characteristics of the classical type, such as pronounced leukocytosis and splenomegaly.5,6

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Acknowledgements

We thank Miss Rossana Trevisan for technical assistance, Mrs Patricia Segato for help in preparing the manuscript and Mr Pierantonio Gallo for artwork.

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Authors and Affiliations

  1. Department of Oncology and Surgical Sciences, Oncology Section, University of Padova and Molecular Oncology and Cytodiagnostic Unit, Azienda Ospedaliera di Padova, Padova, Italy

    R Bertorelle, L Bonaldi, A Del Mistro & L Chieco-Bianchi

  2. Pathology Department, Rovigo General Hospital, Rovigo, Italy

    E Bianchini

  3. Medicine Department, Rovigo General Hospital, Rovigo, Italy

    E Ramazzina, S Zamboni & R Paolini

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Bertorelle, R., Bonaldi, L., Bianchini, E. et al. The e19a2 BCR/ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type. Leukemia 15, 2003–2004 (2001). https://doi.org/10.1038/sj.leu.2402292

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