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BCR-ABL with an e6a2 fusion in a CML patient diagnosed in blast crisis

Leukemia volume 17, pages 2054–2055 (2003)Cite this article

TO THE EDITOR

Chronic myeloid leukaemia (CML) is characterised by the presence of a t(9;22)(q34;q11) reciprocal translocation in over 90% of cases, leading to a Bcr-Abl fusion protein whose increased tyrosine kinase activity is essential for the pathogenesis of the disease. In most CML patients, the breakpoint on the BCR gene occurs in the major breakpoint cluster region (M-bcr), leading to e13a2 and/or e14a2 fusion transcripts and a Bcr-Abl protein of 210 kDa. Breakpoints outside M-bcr occur infrequently in CML, in either m-bcr, producing e1a2 fusion transcripts and a p190 KDa fusion protein, or in the μ-bcr region, generating long e19a2 mRNA molecules and the larger p230Bcr−Abl protein. Other atypical BCR-ABL transcripts with fusions such as e13a3, e14a3 or e6a2 are very rare and have been only occasionally described.1,2,3 We report here a second case of a Philadelphia(Ph)-positive CML patient with an e6a2 BCR-ABL fusion transcript.

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Authors and Affiliations

  1. Department of Haematology, Imperial College London, Hammersmith Hospital, London, UK

    B Schultheis & J V Melo

  2. Royal Liverpool University Hospital, Liverpool, UK

    L Wang & R E Clark

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  1. B Schultheis
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  2. L Wang
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  3. R E Clark
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  4. J V Melo
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Schultheis, B., Wang, L., Clark, R. et al. BCR-ABL with an e6a2 fusion in a CML patient diagnosed in blast crisis. Leukemia 17, 2054–2055 (2003). https://doi.org/10.1038/sj.leu.2403079

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