title: TERT promoter mutations in periocular carcinomas: implications of ultraviolet light in pathogenesis.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Pathology, Far Eastern Memorial Hospital, New Taipei, Taiwan.
authors.forename: Shih-Yao
authors.initials: SY
authors.lastname: Lin
authors.affiliation: Department of Ophthalmology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Shu-Lang
authors.initials: SL
authors.lastname: Liao
authors.affiliation: Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Jin-Bon
authors.initials: JB
authors.lastname: Hong
authors.affiliation: Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Chia-Yu
authors.initials: CY
authors.lastname: Chu
authors.affiliation: Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Yi-Shuan
authors.initials: YS
authors.lastname: Sheen
authors.affiliation: Department of Pathology, Far Eastern Memorial Hospital, New Taipei, Taiwan.
authors.forename: Jie-Yang
authors.initials: JY
authors.lastname: Jhuang
authors.affiliation: Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Jia-Huei
authors.initials: JH
authors.lastname: Tsai
authors.affiliation: Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Jau-Yu
authors.initials: JY
authors.lastname: Liau
mesh_terms: D002278:Carcinoma in Situ / Q000235:genetics / Q000473:pathology; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology; D003230:Conjunctival Neoplasms / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005142:Eyelid Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012626:Sebaceous Gland Neoplasms / Q000235:genetics / Q000473:pathology; D017422:Sequence Analysis, DNA; D015595:Skin Aging / Q000235:genetics / Q000528:radiation effects*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D019098:Telomerase / Q000235:genetics*; D014466:Ultraviolet Rays / Q000009:adverse effects*
chemical_list: D004273:DNA, Neoplasm; C509186:TERT protein, human; D019098:Telomerase
keywords: Conjunctiva; Eye Lids; Neoplasia; Pathology