Professor David Gonzalez de Castro
Queen’s University Belfast
Awarded: £23,749
Status: Complete
The challenge
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, occurring when two “normal” genes are re-arranged together. The resulting fusion gene can lead to cancer. Techniques to detect these unusual genes are now an integral part of the clinical diagnosis for many cancers. However, you can only detect a limited number of fusion genes, and they are not applicable in 15-25% of people with soft tissue sarcoma, as the sample of tissue obtained for diagnosing the cancer is usually small.
How will this project tackle this challenge?
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 a test that can identify more than 95% of all known fusion genes variants in tissue and blood samples, and confirm if it works. This will provide a more definitive diagnosis and classification of many soft tissue sarcoma subtypes and support a specific treatment plan which includes entry into appropriate clinical trials for eligible patients.
What this means for people affected by sarcoma
Correctly diagnosing which type of soft tissue sarcoma a patient has is crucial for ensuring they receive the best possible care. Identifying which soft tissue sarcoma type a person has using only a blood or tissue sample means that patients could be put on the best drug and treatment pathway at an earlier stage, knowing it has a higher chance of success.
