Fusion of ETV6 to MDS1/EVI1 as a result of t(3;12)(q26;p13) in myeloproliferative disorders

Cancer Res. 1997 Feb 15;57(4):564-9.

Abstract

We identified a fusion between ETV6 on 12p13 and MDS1/EVI1 on 3q26 in a t(3;12)(q26;p13) found in two cases of myeloproliferative disorder. The resulting chimeric transcript consists of the first two exons of ETV6 fused to MDS1 sequences, which in turn is fused to the second exon of the EVI1 gene. It has recently been reported that MDS1 can be expressed in normal tissues both as a single gene and fused to EVI1. ETV6 does not contribute any known functional domain to the predicted fusion protein. Association with blast crisis and myelodysplastic syndrome-derived leukemia, bad prognosis, and relative complex karyotype are in agreement with observations made in other cases of t(3;12)(q26;p13). Furthermore, a comparison can be made with the formation of an AML1/MDS1/EVI1 fusion gene in translocations (3;21)(q26;q22).

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Anemia, Refractory, with Excess of Blasts / genetics*
  • Calcium-Calmodulin-Dependent Protein Kinases / genetics*
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 3*
  • DNA-Binding Proteins / genetics*
  • ETS Translocation Variant 6 Protein
  • Female
  • Glycogen Synthase Kinase 3
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Molecular Sequence Data
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins*
  • Transcription Factors / genetics*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors
  • Calcium-Calmodulin-Dependent Protein Kinases
  • Glycogen Synthase Kinase 3