ABSTRACT OF RESEARCH BEING UNDERTAKEN

In people with RDEB, the major cause of early death is the development of squamous cell carcinoma (SCC), a type of skin cancer that in over 50% of patients with RDEB spreads to distant tissues (called metastasis) and eventually causes death. This is very different to non-EB patients where SCC rarely metastasises. In order for tumour cells to invade they require cell membrane molecules, called receptors, to enable them to interact with the surrounding tissue which sends signals through the receptor into the cell. The researchers have identified a receptor called Axl which is found in high levels in skin cancer cell lines from RDEB patients.

In this study, the expression of Axl in tumours from RDEB patients will be examined. Attempts will be made to try to activate or inhibit Axl to see if this promotes or inhibits movement of cells in tissue culture assays. Engineered molecules will also be used to try to totally inhibit expression of Axl in RDEB SCC. If the studies show that Axl plays a significant role in RDEB SCC invasion, it may be possible to develop a specific inhibitor of Axl for affected patients to prevent the spread of skin cancer.