title: Fusion of ETV6 to MDS1/EVI1 as a result of t(3;12)(q26;p13) in myeloproliferative disorders.
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).
authors.affiliation: Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Peeters
authors.forename: I
authors.initials: I
authors.lastname: Wlodarska
authors.forename: M
authors.initials: M
authors.lastname: Baens
authors.forename: A
authors.initials: A
authors.lastname: Criel
authors.forename: D
authors.initials: D
authors.lastname: Selleslag
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
authors.forename: P
authors.initials: P
authors.lastname: Marynen
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics*; D017871:Calcium-Calmodulin-Dependent Protein Kinases / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D038362:Glycogen Synthase Kinase 3; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D017871:Calcium-Calmodulin-Dependent Protein Kinases; D004268:DNA-Binding Proteins; D038362:Glycogen Synthase Kinase 3; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein