Cancer is caused by mutations (or mistakes) in DNA – a person’s biological instruction manual. Some of these mutations are specific for certain cancer types and are therefore useful to make specific diagnoses and in some instances to determine the likelihood of a cancer becoming more aggressive in behaviour. There have been recent studies, albeit in small sample numbers that have discovered a spectrum of specific mutations in a rare form of cancer called malignant peripheral nerve sheath tumours (MPNSTs). This is important because these are aggressive cancers and to date there are no specific markers on which to make a firm diagnosis of this tumour type: therefore MPNST can be mistaken for other tumour types. Furthermore very few markers are known that can predict if a MPNST is likely to progress (spread to other parts of the body).
In this proposal, we have 2 aims: we will study a large number of MPNST samples which we have biobanked for research over the last 12 years to confirm the mutation findings from the recent studies. We will also determine if the mutations are specific for MPNST and could be used for distinguishing MPNST from other tumours, and we will also determine which mutations are associated with progression of disease.
Our second aim is following up on work done with previous funding (£30k) from Sarcoma UK. We have been able to optimise the testing of genetic mutations in tumour DNA that is released into blood. Further optimisation of this assay will transform how patients are monitored for disease relapse. If we can make this work to work well, it would be feasible to detect tumour relapse earlier, reduce the number of visits to out-patient clinics and it would also be useful to test if patients were responding to new treatments in clinical trials.
We have been collecting blood samples from all of our patients with MPNST for the last 5 years. We now need to analyse the blood samples from these patients and test if detection of mutant DNA correlates with relapse / clinical outcome.
Presentations & Workshops
- Noted as an auteur at the European Musculo-Skeletal Oncology Society. May, 2016. La Baule, France.
- Professor Adrienne Flanagan was awarded an OBE in 2017 for her services to cancer research.