Javascript is not activated in your browser. This website needs javascript activated to work properly.
You are here

Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.

  • Helena Ågerstam
  • Henrik Lilljebjörn
  • Carin Lassen
  • Agneta Swedin
  • Johan Richter
  • Peter Vandenberghe
  • Bertil Johansson
  • Thoas Fioretos
Publishing year: 2007
Language: English
Pages: 635-643
Publication/Series: Genes, Chromosomes and Cancer
Volume: 46
Issue: 7
Document type: Journal article
Publisher: John Wiley & Sons

Abstract english

The 8p11 myeloproliferative syndrome (EMS) is a chronic myeloproliferative disorder molecularly characterized by fusion of various 5' partner genes to the 3' part of the fibroblast growth factor receptor 1 (FGFR1) gene at 8p, resulting in constitutive activation of the tyrosine kinase activity contained within FGFR1. EMS is associated with a high risk of transformation to acute myeloid leukemia (AML), but the mechanisms underlying the disease progression are unknown. In the present study, we have investigated a case of EMS harboring a t(8;22)(p11; q11)/BCR-FGFR1 rearrangement as well as a t(9;21)(q34;q22) at the time of AML transformation. FISH and RT-PCR analyses revealed that the t(9;21) leads to a fusion gene consisting of the 5' part of RUNX1 (exons 1-4) fused to repetitive sequences of a gene with unknown function on chromosome 9, adding 70 amino acids to RUNX1 exon 4. The t(9;21) hence results in a truncation of RUNX1. No point mutations were found in the other RUNX1 allele. The most likely functional outcome of the rearrangement was haploinsufficiency of RUNX1, which thus may be one mechanism by which EMS transforms to AML. (c) 2007 Wiley-Liss, Inc.


  • Medical Genetics


  • ISSN: 1045-2257
Thoas Fioretos
E-mail: thoas [dot] fioretos [at] med [dot] lu [dot] se

Research team manager

Translational Genomic and Functional Studies of Leukemia

+46 46 222 45 95

+46 70 334 33 67



Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67