Frequent TERT Promoter Mutations in Ocular Surface Squamous Neoplasia

Investigative Ophthalmology & Visual Science
Simone L ScholzKlaus G Griewank

Abstract

Ocular surface squamous neoplasia, including intraepithelial neoplasia (CIN) and invasive squamous cell carcinoma (SCC), are one of the most common malignant tumors of the conjunctiva. Little is known of the genetic alterations involved in their pathogenesis. Promoter mutations in telomerase reverse transcriptase (TERT) have been identified in various cancers, including many associated with ultraviolet (UV) exposure. Our study analyzes the mutation rate and clinicopathological associations of TERT promoter mutations in ocular surface squamous neoplasia. DNA was isolated and the region of the TERT promoter where hotspot mutations can occur analyzed by Sanger-sequencing in 48 ocular surface squamous neoplasia tumor samples (6 CIN and 42 SCC). An analysis of associations between TERT promoter mutation status and various clinicopathological parameters was performed. We identified TERT promoter mutations in 21 of 48 ocular surface squamous neoplasia samples (43.8%), including 4 in CIN and 17 in SCC. The mutations consisted of 8 Chr.5:1295228C>T, 1 Chr.5:1295228_1295229CC>TT, 5 Chr.5:1295242_1295243CC>TT, and 12 Chr.5:1295250C>T mutations. All mutations were C>T or CC>TT alterations, demonstrating a UV-signature. TERT promoter mutati...Continue Reading

Citations

Mar 23, 2018·Journal of Translational Medicine·Noemy StaritaMaria Lina Tornesello
May 13, 2018·Genes·Tiago Bordeira GasparJoão Vinagre
Aug 17, 2019·Current Molecular Medicine·Sacha Nahon-EstevePaul Hofman
Jul 22, 2018·Ophthalmology and Therapy·Maria Vittoria CicinelliGiulio Modorati
Apr 12, 2017·Asia-Pacific Journal of Ophthalmology·Carol L ShieldsJerry A Shields
Feb 24, 2021·Journal of Clinical Pathology·Alexander Reese, Curtis Edward Margo
May 30, 2021·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Mizuki TagamiShigeru Honda

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