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TERT promoter mutations in periocular carcinomas: implications of ultraviolet light in pathogenesis
  1. Shih-Yao Lin1,
  2. Shu-Lang Liao2,
  3. Jin-Bon Hong3,
  4. Chia-Yu Chu3,
  5. Yi-Shuan Sheen3,
  6. Jie-Yang Jhuang1,
  7. Jia-Huei Tsai4,5,
  8. Jau-Yu Liau4,5
  1. 1Department of Pathology, Far Eastern Memorial Hospital, New Taipei, Taiwan
  2. 2Department of Ophthalmology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  3. 3Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  4. 4Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  5. 5Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan
  1. Correspondence to Dr Jau-Yu Liau, Department of Pathology, National Taiwan University Hospital, No 7, Chung-Shan South Road, Taipei 10051, Taiwan; 019188{at}ntuh.gov.tw

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 light-signature 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.

  • Neoplasia
  • Pathology
  • Conjunctiva
  • Eye Lids

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