A European-wide collaboration, which has received funding from the Bone Cancer Research Trust, has recently produced a mathematical model that can predict the type of sarcoma based on DNA-methylation profiles.

DNA methylation is a completely normal biological process in which methyl groups, small molecules made of carbon and hydrogen atoms, bind to DNA changing its activity. Importantly, DNA methylation does not change the DNA sequence but can switch genes off depending where on the DNA the methylation happens. In cancer, DNA methylation patterns have been shown to change when compared to normal cells, prompting the question of whether these changed DNA methylation patterns could be used as biomarkers.

The model used by the researchers was developed by the German Cancer Research Centre in Heidelberg and was based on a dataset of 1077 DNA-methylation profiles from fully pre-characterised sarcoma tumours.

Dr Lyskjaer and Prof Flanagan examined the DNA methylation data from 935 soft tissue and bone sarcoma patients collected through the UCL Biobank facility at the Royal National Orthopaedic Hospital, which is also funded by our Infrastructure Grants.

When the DNA methylation profiles of the samples were evaluated using the new model, 61% of cases received a sarcoma type prediction and the histological diagnosis agreed with the predicted sarcoma class in 88% of cases. The model performed best when diagnosing chordomas at 85%.

Although these results require further validation, this research demonstrates the potential for DNA-methylation and mathematical modelling to be used to support the diagnosis of sarcoma tumours.

Dr Vinader, Research Manager at the Bone Cancer Research Trust, said:

It is wonderful to see such promising findings coming to fruition thanks to the charity’s funding. Ultimately, the hope is that with the development of this new model patients could receive a quicker diagnosis and potentially better outcomes. On behalf of everyone at the Bone Cancer Research Trust I would like to thank the bone cancer community for raising funds, these research findings are only made possible because of their incredible support.