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A novel translocation, t(14;19)(q32;p13), involving IGH@ and the cytokine receptor for erythropoietin

Leukemia volume 23, pages 614–617 (2009)Cite this article

Translocations involving the immunoglobulin heavy chain locus (IGH@) are common abnormalities in lymphoma and mature B-lineage acute lymphoblastic leukaemia (ALL)1 and more recently in B-cell precursor ALL (BCP-ALL).2, 3, 4 In most cases, IGH@ translocations result in the transcriptional activation of an oncogene.1 We report here a reciprocal translocation, t(14;19)(q32;p13), that juxtaposes the erythropoietin receptor precursor (EPOR) at 19p13 to the IGH@ enhancer resulting in its overexpression.

Cytogenetics and fluorescence in situ hybridization (FISH) were performed on the same fixed cells prepared from all samples. The involvement of IGH@ was determined by interphase FISH, using an IGH@ dual-colour break-apart rearrangement probe (Figure 1b) as described earlier.2 This probe gave a positive result in both patients (Table 1 and Figure 1b). All three remission samples for patient no. 10 672 had a normal signal pattern. In her relapse sample, the reappearance of the translocation was indicated by the presence of the same split signal pattern as seen at diagnosis in 62% of nuclei. FISH mapping of 19p in patient no. 10 672 identified EPOR as the IGH@ partner gene, confirmed by a home-grown dual-colour break-apart rearrangement probe in metaphase (Figures 1c and d). A split signal pattern was observed in interphase nuclei from the diagnostic samples of both patients and the relapse sample of patient no. 10 672 (Table 1), confirming the involvement of EPOR at both diagnosis and relapse.

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Acknowledgements

We thank all members of the UK Cancer Cytogenetics Group for providing cytogenetic data and the Clinical Trial Service Unit (CTSU, University of Oxford, UK) for providing trial data. This study could not have been performed without the dedication of the United Kingdom Children's Cancer and Leukaemia Group, Leukaemia and Lymphoma Division and Adult Leukemia Working Party, and their members who designed and coordinated the clinical trials through which these patients were identified and on which they were treated.

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Authors and Affiliations

  1. Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK

    L J Russell, A V Moorman & C J Harrison

  2. Section of Haemato-Oncology, Institute of Cancer Research, Brookes Lawley Building, Surrey, UK

    D G De Castro

  3. West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Edgbaston, Birmingham, UK

    M Griffiths

  4. Pathology Department, Oncology Cytogenetics Service, Christie Hospital, Manchester, UK

    N Telford

  5. E0210 INSERM, Hôpital Necker-Enfants Malades, Paris, France

    O Bernard

  6. Children's Cancer Research Institute, St. Anna Kinderkrebsforschung and St. Anna Kinderspital, Kinderspitalgasse, 6, Austria

    R Panzer-Grümayer

  7. Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK

    O Heidenreich

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  1. L J Russell
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Correspondence to C J Harrison.

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Russell, L., De Castro, D., Griffiths, M. et al. A novel translocation, t(14;19)(q32;p13), involving IGH@ and the cytokine receptor for erythropoietin. Leukemia 23, 614–617 (2009). https://doi.org/10.1038/leu.2008.250

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