ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome

Haematologica. 2008 Mar;93(3):467-8. doi: 10.3324/haematol.11988.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Anemia, Refractory, with Excess of Blasts / complications
  • Anemia, Refractory, with Excess of Blasts / genetics*
  • Aspartate Aminotransferase, Cytoplasmic / genetics*
  • Chromosome Breakage
  • Chromosomes, Human, Pair 10 / genetics*
  • Chromosomes, Human, Pair 10 / ultrastructure
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 12 / ultrastructure
  • Disease Progression
  • ETS Translocation Variant 6 Protein
  • Fatal Outcome
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / complications
  • Leukemia, Myeloid, Acute / genetics*
  • Mastocytosis / complications
  • Oncogene Proteins, Fusion / genetics*
  • Proto-Oncogene Proteins c-ets / genetics*
  • Repressor Proteins / genetics*
  • Translocation, Genetic*

Substances

  • ETV6-GOT1 fusion protein, human
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Aspartate Aminotransferase, Cytoplasmic