Professor Adrienne Flanagan
University College London
Awarded: £41,860
The challenge
Epithelioid sarcoma is a rare soft tissue sarcoma. It most commonly affecting children and young adults, but sadly it can be aggressive, with a poor prognosis.
People with this subtype of sarcoma have a genetic alteration in a gene called SMARCB1. But little else is known about the underlying biology of epithelioid sarcoma and why these cancers behave so aggressively.
In previous research funded by Sarcoma UK, the team have generated one of the largest molecular datasets of epithelioid sarcoma in the world. In this preliminary work, the team uncovered features about the DNA of epithelioid sarcoma. They also spotted similarities between epithelioid sarcomas and another type of cancer which occurs in children, malignant rhabdoid tumours.
How will this project tackle this challenge?
But with just 16 samples involved in this research, more research on more samples is needed to see if these findings hold true in a larger case set.
In this project, the team will conduct two sets of experiments. Firstly, they will perform several types of analysis on the new samples to see if they get similar results. The second part of the project will look at the whole genome of the epithelioid sarcoma – looking at all of the DNA together and how it interacts. When the DNA of the sarcoma is disrupted, the genome gets broken and stuck back together in the wrong places, meaning the genes don’t work as they should. Long read sequencing can look at the whole genome overall, piecing together the jigsaw to work out what’s gone wrong and provide information to help treat these patients.
What this means for people affected by sarcoma
By exploring their previous results with more samples, the team will provide greater knowledge of why epithelioid sarcoma behave aggressively. This project will also help spur further research into similar cancers, by generating the largest publicly available dataset of epithelioid sarcomas in the world. The team also hope to find a biomarker (a biological indicator) that can help the difference between two different types of epithelioid sarcoma. This in turn could help select patients for the right clinical trial for them.
