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 2023, 15(5), 1378; https://doi.org/10.3390/cancers15051378).