Chondrosarcoma is the most common form of primary bone cancer occurring in adulthood, but it is underfunded and difficult to accurately diagnose. Improvements in diagnosis are desperately required in order to advance treatment planning and in turn, improve patient outcomes.
Professor Flanagan has identified a possible biomarker which increases in levels as the tumour severity increases. In this project she hopes to expand her knowledge further and measure the levels of this biomarker in patients using a simple blood test. She plans to use the biomarker levels to predict the grade of a patient's chondrosarcoma more accurately, allowing surgeons to be correctly informed on the surgery each patient requires.
How is chondrosarcoma diagnosed and treated?
Chondrosarcoma forms in the cartilage and surgery is the only effective treatment. When chondrosarcoma is presenting, a spectrum of changes can be seen down the microscope and these changes are used to inform doctors how a tumour is likely to behave. Chondrosarcoma's are classified as benign, low grade or high grade, and the treatments for these classifications are different.
Benign and low grade tumours are treated with less invasive surgically techniques. Whereas high grade tumours are treated more aggressively and often require surgery that removes a section of the affected bone.The difference in treatment is because high grade tumours have a higher risk of recurrence and spread to other parts of the body. However, distinguishing between benign, low grade and high grade tumours visually (using a microscope) is not always straight forward. Therefore making a decision on the extent of the surgery that is required can be challenging.
What is Professor Flanagan's project aiming to do?
Professor Flanagan has identified a promising biomarker for chondrosarcoma, in the form of a mutation to a gene known as IDH1. A biomarker is a protein or gene that offers a measurable and quantifiable way of detecting something. Mutations to the IDH1 gene are present in approximately 50% of chondrosarcomas. Her group have already seen that these mutations can be found within the tumour, and, that higher levels of mutations correlate with higher grade tumours.
The group have developed a promising new blood test which detects small fragments of DNA from the tumour, which are present in the blood: this is called circulating tumour DNA (or ctDNA). This blood test can detect IDH1 mutations in chondrosarcoma patients, and the levels detected are seen to be high before surgery and drop off after surgery.
This project will determine if measuring the levels of the IDH1 biomarker in a diagnostic biopsy and in blood tests can predict the grade of a patient’s chondrosarcoma more accurately than just looking down a microscope. The study will also look at whether we can use routine blood tests to monitor patients and detect the very early stages of recurrence and catch this before the chondrosarcoma begins to spread.
What does this mean for the future?
If successful, this will be the first and only biomarker for chondrosarcoma – which has been searched for by researchers worldwide! This breakthrough could offer several benefits to the clinical care of chondrosarcoma by:
- Offering pathologists a much more accurate and reproducible way to diagnose and stage chondrosarcomas
- Reliably inform surgeons and clinicians as to the type of surgery a patient requires
- Give a simple and fairly non-invasive way to effectively monitor patients and pick up the early stages of recurrence, hopefully before the disease spreads, allowing further surgical intervention