The clinical impact of fusion genes in paediatric sarcomas


Session type:

Sue Burchill

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, UK


Sarcomas are a heterogeneous group of solid tumours, accounting for approximately 10% of all cancers in children compared to 1% of those in the adult population. They can arise virtually anywhere in the body, and consequently accurate differential diagnosis can pose a challenge. Increasingly non-random chromosome translocations and associated fusion genes are exploited for accurate diagnosis, and in some cases prognostication and monitoring of disease. These abnormalities and emerging molecular phenotypes also represent potential targets for the development of novel therapeutics, which are desperately needed to improve outcome for many children with these tumours.

In this talk I will review the paediatric sarcomas where fusion genes have been described and may be used to increase diagnostic accuracy, and then focusing on the Ewings sarcoma family of tumours (ESFT) illustrate the clinical opportunities that arise and future potential of exploiting such abnormalities.