Test

A revolutionary diagnostic test that promises to significantly impact the clinical management of soft tissue sarcomas is on the brink of development.

29 May 2024

3 minutes

A revolutionary diagnostic test that promises to significantly impact the clinical management of soft tissue sarcomas is on the brink of development. 

A team of scientists from the 鶹AV have identified a crucial biomarker that can predict the aggressiveness of sarcomas, offering a game changing tool for personalised tumour treatment. The project now seeks £20,000 in funding to advance to the next stage. 

Soft tissue sarcomas are diverse tumours that can develop in various body tissues including fat, nerves, blood vessels and deep skin tissues (known as non-myogenic) and muscles (myogenic). The prognosis for sarcoma patients varies widely based on the tumour type, its grade and stage of diagnosis. Until now, no test has existed that could universally predict outcomes for sarcoma patients. 

This gene is very complex – it is a bit like a swiss army knife – there is a common handle and a lot of different attachments that can be used for different things.  It may have numerous functions and yet changes in the levels of expression of this gene are associated with tumour survival.

Professor Darek Gorecki, Professor of Molecular Medicine from the 鶹AV

The team discovered a biomarker, identified as a specific transcript of the DMD gene, present in all types of soft tissue sarcomas (STS). 

Professor Darek Gorecki, Professor of Molecular Medicine from the 鶹AV explained: “This gene is very complex – it is a bit like a swiss army knife – there is a common handle and a lot of different attachments that can be used for different things.  It may have numerous functions and yet changes in the levels of expression of this gene are associated with tumour survival.”

Their research showed that high levels of this biomarker in non-myogenic STS correlate with a significantly shorter survival time. Patients with the highest levels did not survive beyond 7.4 years, whereas 55 per cent of patients with the lowest levels of this biomarker were still alive after fifteen years. This finding suggests that DMD biomarker can serve as a pan-sarcoma predictor of patient outcomes, regardless of the specific sarcoma type. 

Professor Darek Gorecki says: “This test can fundamentally change how sarcomas are treated by providing precise prognostic information. In combination with clinical data, doctors will be able to tailor treatment plans based on the aggressiveness of the tumour, ensuring more effective and personalised care.”

This test can fundamentally change how sarcomas are treated by providing precise prognostic information. In combination with clinical data, doctors will be able to tailor treatment plans based on the aggressiveness of the tumour, ensuring more effective and personalised care.”

Professor Darek Gorecki, Professor of Molecular Medicine from the 鶹AV

The proposed diagnostic test leverages quantitative PCR technology – similar to that used in COVID-19 testing - ensuring it can be readily adopted in most hospitals worldwide. The familiarity with PCR technology means that, once validated, the test can be quickly and easily implemented, offering a cost-effective and widely accessible solution. 

The test’s development is rooted in a discovery during Professors Gorecki’s research on the DMD gene, known for its role in muscular dystrophy. Analysis of various publicly accessible datasets revealed that  specific transcripts of the DMD gene are expressed in all studied STS but at varying levels. Specific expression levels consistently indicated poorer survival rates. 

Professor Gorecki says: “This discovery is serendipitous. Our initial research was focused on the role of the DMD gene in tissues other than muscle and brain, clearly affected in Duchenne muscular dystrophy, but we found its expression levels in tumours correlated with patient survival, particularly in sarcomas.”

The team is collaborating with the Royal Marsden and The Institute of Cancer Research, institutions that house extensive collections of clinical human samples. The next stage of the development will involve validating the test on these samples to de-risk the project before it can be applied in clinical practice. 

Professor Gorecki adds: “With appropriate funding, we can develop the test into a modular tool ready for hospital use. We aim to provide clinicians with the knowledge to make informed decisions, enhancing patient care by tailoring treatments to individual prognoses.”

In addition to improving sarcoma management, this DMD test holds potential for expansion to other tumour types. The team has already demonstrated that it is a prognostic biomarker in histologically diverse mesotheliomas (Transl Lung Cancer Res 2024;13(4):733-748. doi: 10.21037/tlcr-24-28) , and that it could apply to more common types including breast and colon cancer (Cancers 202315(5), 1378; .