Medullary thyroid cancer (MTC) is a rare form of cancer that develops in the thyroid gland.
The thyroid gland sits in the neck on either side of the trachea (windpipe). Medullary Thyroid Cancer is harder to treat than other forms of thyroid cancer as it responds less well to standard therapy. There is a need to better understand MTC so new therapies can be designed and tested.
Sometimes, MTC runs in families. The majority of people with MTC however have no family history. When MTC runs in families, a change in a single gene is often responsible. Searching for this gene alteration means that the disease can be detected or treated early, sometimes before symptoms occur. When the disease is treated early the outcome is much better. There are families and people in whom the disease presents early in life and no genetic alteration can be identified. This leads us to believe that other gene alterations are important in explaining why some people develop MTC. Our project aims to discover those genes alterations and work out how they influence the development of MTC. Ultimately we hope that identifying new gene alterations will improve diagnosis and provide targets for new therapies.
Our project started in 2011 has gained significant momentum and promising early results. Part of the challenge in studying a rare disease such as MTC is locating significant numbers of patients who want to be involved. By advertising our study at conferences around the UK and in Europe, and contacting groups across the world with similar research interests, we have recruited over 60 patients from within the UK and have access to tissue from many more patients with MTC internationally. We are working closely with groups in London, Sydney and Madrid. We have no doubt that this number will increase over the next few years as the project gains further momentum and as we present our results to a wider audience.
Using state of the art genetic technology we have identified a single gene abnormality which we are looking at in greater detail. This is the first time that this technology has been used to try to identify new gene alterations for patients with MTC. We have been able to set up models within the laboratory to test our theories on how these gene changes may lead to people to developing MTC. This work is ongoing. We presented our preliminary data at the British Association of Endocrine and Thyroid Surgeons in 2013 in Rome and received the British Journal of Surgery prize for best research paper. In addition, our research has been accepted for presentation at the European Society of Endocrine Surgeons in Cardiff and The American Head and Neck Society in New York, both in 2014.
If we are able to confirm a new gene alteration in MTC, it could improve diagnosis and increase the chance that disease can be detected early. Identifying new gene alterations may also aid in our understanding of MTC, ultimately leading to new drug targets and better therapies for patients.
Dr Joel Smith. Research Fellow, University of Birmingham