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A novel t(2;10)(q31;p12) balanced translocation in acute myeloid leukemia

Luciana Impera, Giulia Daniele, Luisa Marra, Carmen Baldazzi, Ilaria Iacobucci, Giovanni Martinelli, Nicoletta Testoni, Clelia Tiziana Storlazzi
  • Luciana Impera
    Department of Biology, University of Bari, Italy
  • Giulia Daniele
    Department of Biology, University of Bari, Italy
  • Luisa Marra
    Department of Biology, University of Bari, Italy
  • Carmen Baldazzi
    Institute of Hematology and Medical Oncology Lorenzo e Ariosto Seràgnoli, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy
  • Ilaria Iacobucci
    Institute of Hematology and Medical Oncology Lorenzo e Ariosto Seràgnoli, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy
  • Giovanni Martinelli
    Institute of Hematology and Medical Oncology Lorenzo e Ariosto Seràgnoli, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy
  • Nicoletta Testoni
    Institute of Hematology and Medical Oncology Lorenzo e Ariosto Seràgnoli, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy

Abstract

We describe a case of acute myeloid leukemia M5 showing a balanced t(2;10)(q31;p12) translocation. This has never been described before as the sole cytogenetic abnormality in a bone marrow cell clone at onset. Using fluorescence in situ hybridization with properly designed bacterial artificial chromosome probes, we mapped the breakpoint regions on both derivative chromosomes 2 and 10:der(2) and der(10), respectively. The MPP7 gene, disrupted by the breakpoint on chromosome 10, was juxtaposed upstream of both HNRNA3 and NFE2L2 genes on chromosome 2, without the formation of any fusion gene. Using real-time quantitative polymerase chain reaction, we tested the possible disregulation of any of the breakpoint-associated genes as a consequence of the translocation, but we found no statistically significant alteration. Considering the potential role of this clonal cytogenetic abnormality in leukemogenesis, we speculate that this translocation could have an impact on additional genes mapping outside the breakpoint regions. However, the limited amount of RNA material available prevented us from testing this hypothesis in this present case.

Keywords

chromosome, translocation, FISH, acute myeloid leukemia, HNRNA3, NFE2L2, MPP7

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Submitted: 2012-11-13 16:31:41
Published: 2012-12-11 14:10:57
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