A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1

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The EVI1 proto-oncogene encodes a nuclear zinc finger protein that acts as a transcription repressor factor. In myeloid leukemia it is often activated by chromosomal rearrangements involving band 3q26, where the gene has been mapped. Here we report two leukemia cases [a chronic myeloid leukemia blast crisis (CML-BC) and an acute myeloid leukemia (AML) M4] showing a t(3;7)(q26;q21) translocation in a balanced and unbalanced form, respectively. Fluorescent in situ hybridization (FISH) analysis revealed that both patients showed a breakpoint on chromosome 3 inside the clone RP11-33A1 containing the EVI1 oncogene and, on chromosome 7, inside the clone RP11-322M5, partially containing the CDK6 oncogene which is a D cyclin-dependent kinase gene, observed to be overexpressed and disrupted in many hematological malignancies. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis showed overexpression of EVI1 in both cases, but excluded the presence of any CDK6/EVI1 fusion transcript. CDK6 expression was also detected. Together, these data indicate that EVI1 activation is likely due not to the generation of a novel fusion gene with CDK6 but to a position effect dysregulating its transcriptional pattern.


  • CT Storlazzi
  • L Anelli
  • F Albano
  • A Zagaria
  • M Ventura
  • M Rocchi
  • Ioannis Panagopoulos
  • A Pannunzio
  • E Ottaviani
  • V Liso
  • G Specchia
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology


  • translocation t(3, gene overexpression, myeloid leukemia, EVI1, 7)
Original languageEnglish
Pages (from-to)78-83
JournalAnnals of Hematology
Issue number2
Publication statusPublished - 2004
Publication categoryResearch