It's vital that people are correctly diagnosed in order to get the best treatment. But getting an accurate diagnosis can be difficult when there more than 60 types of soft tissue sarcoma (STS) alone.
Why is it so difficult to identify the different types of soft tissue sarcoma? Many STSs are characterised by specific fusion genes (FG). FG come about when two 'normal' genes are re-arranged together, creating a 'chimeric' gene that can lead to cancer. While we now use techniques to detect FG during the clinical diagnosis, we can't yet identify all of these genes.
Additionally, because not very many people have these sarcomas, there are few tissue samples for researchers to study. We have awarded £23,749 to Professor David Gonzalez de Castro at Queen's University Belfast to look further into the detection of these fusion genes.
Prof. Gonzalez de Castro is working on a way of diagnosing STS that can be used in blood samples, rather than just tissue samples.
If successful, the team could develop a way to 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 a specific treatment plan which includes entry into appropriate clinical trials for eligible patients.