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

Ann Hematol. 2004 Feb;83(2):78-83. doi: 10.1007/s00277-003-0778-y. Epub 2003 Oct 10.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Alternative Splicing / genetics
  • Blast Crisis / genetics
  • Blast Crisis / metabolism
  • Blast Crisis / pathology
  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Cloning, Molecular
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Expression Regulation, Leukemic
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / metabolism
  • Leukemia, Myeloid / pathology
  • MDS1 and EVI1 Complex Locus Protein
  • Male
  • Middle Aged
  • Proto-Oncogene Mas
  • Proto-Oncogenes*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • MAS1 protein, human
  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human
  • Proto-Oncogene Mas
  • Transcription Factors