A Unique Genetic Mutation Found Underlying Skin Cancer Growth

Unique Genetic Mutation

One of the most common forms of skin cancer is cutaneous squamous cell carcinoma (cSCC), a widespread type of tumor with underlying mechanisms that are not fully understood. A research collaboration has released some findings that may help tilt the needle towards the “understood” side of the equation, with the discovery of a genetic mutation that may suggest how the cancer originates.

The findings surround relatively frequent mutations in a pair of genes known as TGFBR1 and TGFBR2. When mutated, these genes commonly impair something called TGF-β, which is a type of tumor suppressor pathway in the skin. When active, TGF-β tends to have its activity focused on a specific type of stem cell compartment in the hair follicles. Based on the finding that the TGFBR pair could inhibit TGF-β, the researchers decided to do some tinkering.

The researchers deleted TGF-β signaling specifically within the follicle stem cells and then induced the initiating events for cSCC. The result was the rapid and aggressive growth of a cSCC tumor. The conclusion the researchers reached is that the inactivating mutations of TGFBR1 and TGFBR2 would be capable of driving cSCC tumor formation by disabling TGF-β activity.

Although the findings about this genetic mutation are useful from a skin cancer research perspective, these findings are best considered as preliminary. A key point to keep in mind is that it isn’t clear what the actual implications are for our understanding of human cSCC tumors. The researchers’ current thinking is that deactivation of TGF-β signaling might occur early on in tumor formation, which, if true, would help improve the way the tumors are classified, diagnosed, and treated. From there, work can begin on finding ways to translate the findings into clinical applications.

Hill, G., “Research reveals genetic mutations driving skin cancer,” University of Dundee web site, September 26, 2016; http://www.dundee.ac.uk/news/2016/research-reveals-genetic-mutations-driving-skin-cancer.php, last accessed September 26, 2016.