Fusion Gene For Skin Cancer Linked To Frequent Sun Exposure

No fusion gene had been identified for cutaneous squamous cell carcinoma although they are found in various types of connective tissue tumors.

A single composite gene that is the result of the combination of two formerly independent genes has the tendency to be found in cutaneous squamous cell carcinoma (cSCC).

Many cSCCs are easily treated by simple removal, but if left untreated they can become deadly. Current detection methods can be slow, particularly for abnormal cases, and some cSCCs are resistant to standard treatments emphasizing the need for improved diagnostics and therapies.

Skin Cancer - Types, Causes, Symptoms, Diagnosis, Treatment & Prevention
Skin cancer is an abnormal growth of skin cells. It can develop due to a continuous exposure to sun over the years.

‘The fusion of epidermal growth factor receptor (EGFR) and exon2 of PPARγ coactivator 1-α (PPARGC1A) in the A431 cell line were found in skin cancer patients.’

Fusion genes may be found in various types of connective tissue tumors, and some treatments have been developed that inhibit the tumor-forming actions of those genes. However, no fusion gene had been identified for cSCC before the Kumamoto University research team began their search.

The research team started with the cell lines A431 and DJM-1, which are frequently used in SCC studies, and normal human epidermal keratinocytes (NHEKs) as a control.

Using transcriptome sequencing, they found a fusion between exon16 of epidermal growth factor receptor (EGFR) and exon2 of PPARγ coactivator 1-α (PPARGC1A) in the A431 cell line but not in the normal skin samples or other tumor tissues.

Basal Cell Cancer-Risk Factors-Symptoms–Diagnosis–Treatment–Prognosis-Prevention
Basal cell cancer is a locally invading cancer. It often occurs on the face above a line joining the angle of the mouth and the ear lobe.

In samples of human tumor tissues, the fusion gene EGFR-PPARGC1A was found in areas frequently exposed to the sun, like the face or hands, but not in areas of the body that are typically concealed in the daylight.

Furthermore, fusion genes typically found in other types of SCCs were rarely found in cSCC. The researchers believe that this is because of cSCC's interrelationship with sun exposure, and that EGFR-PPARGC1A may play a part in cancers caused by ultraviolet irradiation.