Thursday 21 June 2007
Chromosome aberrations, in particular translocations and their corresponding gene fusions, have an important role in the initial steps of tumorigenesis.
In 2007, 358 gene fusions involving 337 different genes have been identified.
An increasing number of gene fusions are being recognized as important diagnostic and prognostic parameters in malignant haematological disorders and childhood sarcomas.
The biological and clinical impact of gene fusions in the more common solid tumour types has been less appreciated.
However, an analysis of available data shows that gene fusions occur in all malignancies, and that they account for 20% of human cancer morbidity.
fusion genes involving tyrosine kinases
fusion genes involving transcription factors
Common fusion gene in different tumors
EWSR1/CREB1 fusion gene in
ETV6/NTRK3 fusion gene in
- congenital fibrosarcoma
- cellular mesoblastic nephroma
amplification of fusion genes
Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007 Aug 20; PMID: 17724745
Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma—association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res 2006; 12: 5356-5362. Medline 17000668
Aman P. Fusion genes in solid tumors. Semin Cancer Biol. 1999 Aug;9(4):303-18. PMID: 10448117