TERT promoter mutations in periocular carcinomas: Implications of ultraviolet light in pathogenesis
Journal
British Journal of Ophthalmology
Journal Volume
100
Journal Issue
2
Pages
274-277
Date Issued
2016
Author(s)
Lin S.-Y.
Jhuang J.-Y.
Abstract
Background/aims Ultraviolet light-signature mutations in the telomerase reverse transcriptase (TERT) gene promoter have been identified in cutaneous melanomas, basal cell carcinomas (BCCs), and squamous cell carcinomas (SCCs). Whether these mutations also occur in periocular tumours, including periocular sebaceous carcinomas (PSCs) and in situ tumours, has not been studied. Methods DNA extraction, PCR and Sanger sequencing were used to determine the frequency of TERT promoter mutations in periocular tumours. The presence of mutations was correlated with histological evidence of solar elastosis. Results Sixty-three tumours were analysed. TERT promoter mutations were identified in 18 of 22 BCCs (82%), 6 of 10 SCCs (60%), 1 of 2 in situ SCCs (50%), 4 of 9 grade III conjunctival intraepithelial neoplasia (CIN III) (44%) and 0 of 20 PSCs (0%). For BCCs, TERT promoter mutations were not associated with the histological risk categories of the tumours. For CIN III cases, all of the three lesions with solar elastosis had TERT promoter mutations, whereas the mutation was found in only one of the six CIN III cases without solar elastosis. Conclusions We demonstrate that ultraviolet lightsignature TERT promoter mutations are very common in periocular BCCs, SCCs and CIN III lesions, indicating important roles of ultraviolet light in the pathogenesis of these tumours. In addition, the mutations are present in in situ stage. By contrast, no TERT promoter mutation is found in PSCs.
SDGs
Other Subjects
DNA; telomerase reverse transcriptase; DNA; telomerase; TERT protein, human; Article; basal cell carcinoma; Bowen disease; bowenoid actinic keratosis; carcinogenesis; conjunctival intraepithelial neoplasia; DNA extraction; elastosis; eye cancer; gene mutation; histology; human; human tissue; major clinical study; periocular carcinoma; polymerase chain reaction; priority journal; promoter region; solar elastosis; squamous cell carcinoma; TERT gene; ultraviolet radiation; adverse effects; basal cell carcinoma; carcinoma in situ; conjunctiva tumor; cutaneous parameters; dna mutational analysis; DNA sequence; eyelid tumor; genetics; mutation; pathology; promoter region; radiation response; sebaceous gland tumor; skin tumor; squamous cell carcinoma; ultraviolet radiation; Carcinoma in Situ; Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Conjunctival Neoplasms; DNA Mutational Analysis; DNA, Neoplasm; Eyelid Neoplasms; Humans; Mutation; Polymerase Chain Reaction; Promoter Regions, Genetic; Sebaceous Gland Neoplasms; Sequence Analysis, DNA; Skin Aging; Skin Neoplasms; Telomerase; Ultraviolet Rays
Publisher
BMJ Publishing Group
Type
journal article