title: ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome.
abstract: The ETV6/GOT1 fusion, resulting from t(10;12) (q24;p13), has been recently described in a myelodysplastic syndrome. We reported a second case of t(10;12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Struski
authors.forename: Laurent
authors.initials: L
authors.lastname: Mauvieux
authors.forename: Carine
authors.initials: C
authors.lastname: Gervais
authors.forename: Catherine
authors.initials: C
authors.lastname: Hélias
authors.forename: Kun Lun
authors.initials: KL
authors.lastname: Liu
authors.forename: Michel
authors.initials: M
authors.lastname: Lessard
mesh_terms: D000368:Aged; D000754:Anemia, Refractory, with Excess of Blasts / Q000150:complications / Q000235:genetics*; D024443:Aspartate Aminotransferase, Cytoplasmic / Q000235:genetics*; D019457:Chromosome Breakage; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics* / Q000648:ultrastructure; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics* / Q000648:ultrastructure; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000235:genetics*; D008415:Mastocytosis / Q000150:complications; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D024443:Aspartate Aminotransferase, Cytoplasmic; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C529722:ETV6-GOT1 fusion protein, human