TERT promoter mutations in skin disease before and after treatment

Squamous cell carcinoma is a common skin cancer. It does not usually develop metastases and can be cured by surgery. However, as exposure to solar irradiation is the major risk factor for this skin cancer, the location of tumors are at sun-exposed sites, usually on the face. Thus the surgical removal of tumors may cause cosmetic disfiguration. Sun-bed use is a recent risk factor for this skin cancer, as it is for the more aggressive melanoma.

squamous cell skin cancer

Squamous cell skin cancer develops over the years at sun-exposed sites. It first appear as a precursor, actinic keratosis, which appears as a brownish rough skin lesion and which may further expand in the course of years. Dermatologists and dermatology clinics can treat these precursor lesions and thus prevent their progression to cancer. TERT a gene that maintains telomere ends in the tips of each chromosome, which prevent cell death and cancer development. Mutation in the promoter of this gene predispose to many cancers, including skin cancer. In this study we collaborated with Finnish dermatologists who treated patients with actinic keratosis. They took tiny skin biopsies from the affected skin before treatment and after treatment. We showed that TERT promoter mutations were present in samples before treatment but they had disappeared in samples after treatment. This may indicate that the cells with the deleterious mutation were killed by the treatment.

 

Srinivas N, Neittaanmäki N, Heidenreich B, Rachakonda S, Karppinen TT, Grönroos M, Tani TT, Salmivuori M, Snellman E, Hemminki K, Kumar R. Int J Cancer. 2020;146:2932-293.

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