Methylation Analysis for Soft Tissue Lesions and Rapid Classification
Research type
Research Study
Full title
Nanopore-based methylome classification and next-day comprehensive tumour profiling for ultra-rapid tumour diagnostics in soft-tissue sarcomas
IRAS ID
353961
Contact name
Matthew Loose
Contact email
Sponsor organisation
University of Nottingham
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Soft-tissue sarcomas are cancers arising from connective tissues, such as muscles, tendons, nerves and blood vessels. At present, diagnosis of a sarcoma is based primarily on radiological appearance on MRI or CT imaging and examination of tissue cells using a microscope. However, given the large number of sarcoma subtypes, they can be challenging to diagnose based on medical imaging and microscopic appearance alone. In these cases, further tests may be performed to look at the genetic (DNA) make-up of the sarcoma. Some sarcomas contain characteristic DNA signatures that allow for an accurate diagnosis to made based on this information. However, presently, in the NHS the time taken for patients suffering from soft-tissue sarcomas to receive genetic testing is currently measured in weeks, if not months. These lengthy delays can cause significant anxiety for patients awaiting their results and delays subsequent treatment decisions for their healthcare team. Currently, delays are caused due to the centralised model of genetic analysis in the NHS; requiring samples to be sent to regional centres, processed as a large batch, and the results communicated back to the treating team. We seek to transform this by utilising Oxford Nanopore sequencing technology, which allows genetic testing to be performed in the local setting on individual samples. We seek to demonstrate the feasibility of implementing nanopore sequencing in clinical practice and show patient benefit by reducing diagnostic turnaround times and informing early clinical decision-making. As such, we propose a prospective, single-centre 20 participant cohort study, comparing nanopore sequencing to current NHS standard-of-care diagnostic testing.
REC name
East Midlands - Nottingham 2 Research Ethics Committee
REC reference
25/EM/0096
Date of REC Opinion
12 May 2025
REC opinion
Further Information Favourable Opinion