ArticleThe ocular surface2020
Whole exome profiling and mutational analysis of Ocular Surface Squamous Neoplasia.
Article in The ocular surface, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of dysregulated gene clusters and pathways driving ocular surface squamous neoplasia progression.Scientific reports · 2025Article
- Clinico-tomographic-pathological correlation in nodulo-ulcerative ocular surface squamous neoplasia: a study of 16 cases.International ophthalmology · 2025Article
- Establishment of a nomogram model to predict malignant risk in patients with ocular surface squamous neoplasia and ocular surface squamous epithelial tumors.Frontiers in oncology · 2025Article
- Review
- Unusually Aggressive Actinic Keratosis of the Eyelid and Conjunctiva.Acta dermato-venereologica · 2023Article
- Human papillomavirus-related neoplasia of the ocular adnexa.Acta ophthalmologica · 2022Article
- Pterygium-The Good, the Bad, and the Ugly.Cells · 2021Review
- Corneal epithelial development and homeostasis.Differentiation; research in biological diversityReview
- Next-Generation Sequencing-Based Molecular Profiling of Conjunctival Squamous Cell Carcinoma and Its Potential Application for Therapy.Ophthalmology scienceArticle
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeTo determine genetic mutational profiles in patients with Ocular Surface Squamous Neoplasia (OSSN) using whole exome sequencing.
methodsProspective, case-series study. Patient recruitment was conducted in a single tertiary referral center from April to September 2017. Specimens were obtained by incisional biopsies of tumors from ten eyes with histopathologic confirmation of OSSN. DNA whole exome sequencing and mutation analysis were performed.
resultsTen patients with clinically-diagnosed OSSN underwent DNA whole exome sequencing analysis. Deleterious mutations in 305 genes known to drive tumor development and progression were found. These mutations centered around two main pathways: DNA repair/cell cycle and development/growth. All ten samples had at least one mutation in a DNA repair/cell cycle gene and all but one sample had one in a development/growth gene. The most common mutation was found in TP53 and HGF (both present in 50% of cases) and mutually exclusive mutations were found in BRCA1 and BRCA2 (50% of cases). Mutations in APC, MSH6, PDGFRA, and PTCH1 were found in 40% of cases. Global mutation analysis identified ultraviolet induced radiation as the only mutational signature present in the dataset.
conclusionsMutations found in samples from patients with OSSN are mainly induced by ultraviolet radiation and occur within two main pathways related to DNA repair/cell cycle and development/growth. There are many clinically available drugs and several others being evaluated in clinical trials that target the genes found mutated in this study, offering new therapeutic options for OSSN.
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Registered trials
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