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

Elena Belloni, Maurizio Trubia, Patrizia Gasparini, Carla Micucci, Cinzia Tapinassi, Stefano Confalonieri, Paolo Nuciforo, Bruno Martino, Francesco Lo-Coco, Pier Giuseppe Pelicci, Pier Paolo Di Fiore

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)320-325
Number of pages6
JournalGenes Chromosomes and Cancer
Volume42
Issue number3
DOIs
Publication statusPublished - Mar 2005

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

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