Dr Emma Woodward
University of Manchester
Awarded: £179,348
The challenge
Some adolescents and young adults have a much higher risk of developing sarcoma because of inherited genetic conditions such as Li-Fraumeni Syndrome (LFS), hereditary retinoblastoma (RB) and Neurofibromatosis Type 1 (NF1).
Although this group is known to be high risk, there is no reliable or accessible way to detect sarcoma early. Annual scans are sometimes offered, but they are not perfect. Some cancers may be missed, scans can cause unnecessary worry, and access to specialist imaging can involve long waits. For RB survivors in particular, no effective surveillance method exists. Better, simpler early-detection tools are urgently needed.
How will this project tackle this challenge?
This study will test whether a blood test could help spot sarcoma earlier than current methods. Young people with LFS, RB or NF1 will provide three blood samples over 18 months.
Researchers will analyse tiny fragments of DNA circulating in the blood (called cell-free DNA) using two approaches:
- Fragmentomics: studying the size and patterns of DNA fragments, which may change as cancer develops.
- Methylation profiling: chemical signatures that can indicate which tissues the DNA came from.
Samples will also be compared with those from high-risk individuals who have developed sarcoma. The project has been designed in partnership with people affected by LFS, RB and NF1 to ensure it reflects their needs and concerns.
What this means for people affected by sarcoma
This project aims to develop a blood-based “early warning signal” for sarcoma, helping high-risk young people get diagnosed sooner, when treatment is more effective.
