title: Fusion of ETV6 to GOT1 in a case with myelodysplastic syndrome and t(10;12)(q24;p13).
abstract: The ETV6 gene on 12p13 is involved in different hematologic malignancies through a variety of chromosomal translocations. Here we report the analysis of a t(10;12)(q24;p13) identified in a patient with myelodysplastic syndrome. Our results show that the t(10;12) results in the generation of an in-frame fusion between ETV6 and GOT1, a gene encoding a cytosolic glutamic-oxaloacetic transaminase enzyme. In addition, two other fusion transcripts involving exons from yet unidentified genes were detected, as well as expression of an uncharacterized gene from the 10q24 region. This work identifies GOT1 as a novel fusion partner of ETV6 in myelodysplastic syndrome.
authors.affiliation: Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium.
authors.forename: Hilde
authors.initials: H
authors.lastname: Janssen
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.forename: Peter
authors.initials: P
authors.lastname: Marynen
authors.forename: Jan
authors.initials: J
authors.lastname: Cools
mesh_terms: D000368:Aged; D001219:Aspartate Aminotransferases / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002881:Chromosomes, Human, Pair 12; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D001219:Aspartate Aminotransferases; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein