8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes

Genes Chromosomes Cancer. 2005 Mar;42(3):320-5. doi: 10.1002/gcc.20144.


8p11 myeloproliferative syndrome (EMS) is a clinical-pathologic entity characterized by rearrangements involving the FGFR1 gene, which encodes a receptor tyrosine kinase. These rearrangements invariably lead to aberrant fusion proteins in which the kinase activity is constitutively turned on, with resulting oncogenic properties. In this article, we describe a new translocation in EMS, t(7;8)(q34;p11), in which the FGFR1 gene is fused to a previously unidentified partner, the TIF1 gene. We show that both the TIF1-FGFR1 and FGFR1-TIF1 fusion proteins have the potential to be translated as a result of the translocation. Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease.

Publication types

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

MeSH terms

  • Apoptosis / genetics
  • Apoptosis Regulatory Proteins
  • Base Sequence
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Genotype
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Myeloproliferative Disorders / genetics*
  • Myosin Heavy Chains / genetics*
  • Nuclear Proteins
  • Oncogene Proteins, Fusion / genetics*
  • Phenotype
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptors, Fibroblast Growth Factor / genetics*
  • Syndrome
  • Translocation, Genetic / genetics*


  • Apoptosis Regulatory Proteins
  • Carrier Proteins
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Receptors, Fibroblast Growth Factor
  • TIAF1 protein, human
  • FGFR1 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 1
  • Myosin Heavy Chains