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A simple FISH assay for the detection of 3q26 rearrangements in myeloid malignancy

Leukemia volume 22, pages 434–437 (2008)Cite this article

In myeloid malignancy, a number of recurrent and sporadic rearrangements of 3q26 are associated with transcriptional activation of EVI1 and/or EVI1 chimaeric genes.1 Recurrent rearrangements include the inv(3)(q21q26) and its variants t(3;3)(q21;q26) and ins(3;3)(q26;q21q26), as well as translocations involving other chromosomes such as the t(3;21)(q26;q22). In general, 3q26 rearrangements are associated with a poor disease prognosis.2

Given the unfavourable outcome of 3q26 rearrangements, methods for establishing their presence at diagnosis and during treatment or disease progression are highly desirable, particularly when chromosome banding analysis is hampered by low quality or insufficient metaphase cells. To date, however, the wide 3q26 breakpoint region has precluded development of a single fluorescent in situ hybridization (FISH) probe sensitive enough to monitor residual disease. We describe a novel dual-colour FISH probe designed to span the entire 3q26 breakpoint region in a single hybridization, which allowed successful detection and quantification of the level of leukaemic cells in 11 patients with 3q26 rearrangements. Physical mapping data obtained with this probe further support the notion of a degree of rearrangement-specific breakpoint clustering within cytogenetic subgroups of 3q26 abnormality.

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Authors and Affiliations

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

    V De Melo, J F Apperley & A G Reid

  2. Kreatech Biotechnology, Amsterdam, The Netherlands

    M Vetter

  3. Department of Haematology, University College London, London, UK

    H Mazzullo

  4. Department of Academic Haematology, Royal Free and University College Medical School, London, UK

    J D Howard & E P Nacheva

  5. Department of Oncology, University Children's Hospital, Zurich, Switzerland

    D R Betts

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  1. V De Melo
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  2. M Vetter
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  3. H Mazzullo
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  4. J D Howard
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  6. E P Nacheva
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  7. J F Apperley
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  8. A G Reid
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Correspondence to A G Reid.

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De Melo, V., Vetter, M., Mazzullo, H. et al. A simple FISH assay for the detection of 3q26 rearrangements in myeloid malignancy. Leukemia 22, 434–437 (2008). https://doi.org/10.1038/sj.leu.2404906

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