Molecular and epigenetic mechanisms governing ocular surface squamous neoplasia: opportunities for diagnostics

Expert Rev Mol Diagn. 2023 Dec 22:1-15. doi: 10.1080/14737159.2023.2298681. Online ahead of print.ABSTRACTINTRODUCTION: Ocular surface squamous neoplasia (OSSN) is the most common ocular malignancy; the pathophysiology is influenced by molecular, genetic, and epigenetic mechanisms. The incidence of OSSN is associated with the anatomy and physiology of the ocular surface, limbal stem cell configuration, limbal vulnerability, cancer stem cells, dysplasia, neoplasia, angiogenesis, invasion, and metastasis. The key etiological factors involved are human papillomavirus (HPV), human immunodeficiency virus (HIV), immunosuppression, p53 tumor suppressor gene, hypovitaminosis A, and failure of Deoxyribonucleic acid (DNA) repair mechanisms.AREAS COVERED: This special report is a focussed attempt to understand the molecular mechanism, genetic and epigenetic mechanism, and diagnostic modalities for OSSN.EXPERT OPINION: While these mechanisms contribute to genome instability, promoter-specific hypermethylation might facilitate and promote tumor formation by silencing tumor suppressor genes. OSSN understanding has improved with increased literature available on various genetic, molecular, and epigenetic mechanisms, although the exact genetic and epigenetic mechanisms still need to be elucidated. It is important to note that the molecular mechanisms of OSSN can vary among individuals, and further research is required to elucidate the underlying processes fully. Understanding these mechanism...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Authors: Source Type: research