Professor David Gonzalez de Castro
Queen's University Belfast
There are more than 60 types of soft tissue sarcoma (STS), and correctly diagnosing these is key to patients receiving the best treatment and recruiting patients into appropriate clinical trials and correct follow-up regimen.
Many STS are characterised by specific fusion genes (FG), occurring when two “normal” genes are re-arranged together, creating a “chimeric” gene that can lead to cancer. Techniques to detect FG are now an integral part of the clinical diagnosis.
However, the number of FG which can be detected is limited, and they are not applicable in 15-25% of STS patients as the diagnostic tissue sample is usually small.
The aim of this project is to develop a diagnostic method that can be used in blood samples, rather than just tissue samples, which could improve diagnosis in a substantial number of STS patients.
This project aims to develop and validate a FG testing panel that can identify more than 95% of all known FG variants in tissue as well as peripheral blood samples. This will provide a more definitive diagnosis and classification of many STS and support a specific treatment plan which includes entry into appropriate clinical trials for eligible patients.