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

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
673 KB
Volume
42
Category
Article
ISSN
1045-2257

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✦ Synopsis

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. © 2004 Wiley‐Liss, Inc.

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