https://orcid.org/0000-0001-9754-2284
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ABSTRACT
Introduction
Cancer is heavily influenced by epigenetic mechanisms that include DNA methylation, histone modifications, and non-coding RNA. A considerable proportion of human malignancies are believed to be associated with global DNA hypomethylation, with localized hypermethylation at promoters of certain genes.
Area covered
The present review aims to emphasize on recent investigations on the epigenetic landscape of ocular surface squamous neoplasia, that could be targeted/explored using novel approaches such as personalized medicine.
Expert opinion
While the former is thought to contribute to genomic instability, promoter-specific hypermethylation might facilitate tumorigenesis by silencing tumor suppressor genes. Ocular surface squamous neoplasia, the most prevalent type of ocular surface malignancy, is suggested to be affected by epigenetic mechanisms, as well. Although the exact role of epigenetics in ocular surface squamous neoplasia has mostly been unexplored, recent findings have greatly contributed to our understanding regarding this pathology of the eye.
Article highlights
Nanodevices can be used as diagnostic platforms for identification of distinct epigenetic changes associated with different diseases, particularly neoplasms such as OSSN.
Recent investigations have highlighted the role of epigenetic mechanisms including histone modifications and DNA methylation in the pathogenesis of OSSN.
Roughly 40% of the mammalian genome is made of CpG islands, which are methylated or demethylated by corresponding enzymes to regulate gene expression.
Development and application of nanodevices for identification of OSSN-related DNA methylation can assist clinicians with developing screening and diagnostic programs.
Abbreviations
| 5mC | = | 5-methylcytosine |
| 3’UTR | = | 3’ untranslated region |
| Affymetrix | = | applied microarray analysis |
| aCGH | = | array-based Comparative Genomic Hybridization |
| AMD | = | age-related macular degeneration |
| BAP1 | = | BRCA1-associated protein-1 |
| BSS | = | bisulfite sequencing |
| CDK | = | cyclin-dependent kinase |
| CDK4 | = | cyclin-dependent kinase 4 |
| CDK6 | = | cyclin-dependent kinase 6 |
| CIN | = | intraepithelial neoplastic lesions |
| CGH | = | Comparative Genomic Hybridization |
| CIN 1 | = | conjunctival intraepithelial neoplasia 1 |
| CIN 2 | = | conjunctival intraepithelial neoplasia 2 |
| CIN 3 | = | conjunctival intraepithelial neoplasia 3 |
| CMs | = | conjunctival melanoma samples |
| CpG | = | 5‘—C – phosphate—G—3’ |
| CSCC | = | conjunctival squamous cell carcinoma |
| CT | = | computed tomography |
| DNMTs | = | DNA methyltransferases |
| DNMT1 | = | DNA methyltransferase 1 |
| DNMT3A | = | DNA methyltransferase 3A |
| DNMT3B | = | DNA methyltransferase 3B |
| DNMT3L | = | DNA methyltransferase 3-like |
| E-MSP | = | specific electrochemical methylation-specific polymerase chain reaction |
| GNAQ | = | guanine nucleotide-binding protein G subunit |
| HATs | = | histone lysine acetyltransferases |
| HDACs | = | histone deacetylases |
| HIV | = | immunodeficiency virus |
| HPV | = | human papilloma virus |
| HR-OCT | = | high-resolution optical coherence tomography |
| HSP90 | = | heat shock protein 90 |
| HSV-1 | = | herpes simplex virus 1 |
| IHC | = | immunohistochemical |
| IVCM | = | In vivo confocal microscopy |
| LncRNAs | = | long non-coding RNAs |
| MAPK | = | mitogen-activated protein kinase |
| miRNAs | = | microRNAs |
| MMP-9 | = | matrix metalloproteinase 9 |
| MMP-11 | = | matrix metalloproteinase 11 |
| MRI | = | magnetic resonance imaging |
| MS-HRM | = | methylation-sensitive high-resolution melting analysis |
| MS-MPLA | = | Methylation-specific multiplex ligation-dependent probe amplification |
| MSP-PCR | = | Methylation-specific PCR |
| ncRNAs | = | non-coding RNAs |
| OCT | = | optical coherence tomography |
| OS | = | ocular surface |
| OSSN | = | Ocular surface squamous neoplasia |
| qMSP | = | quantitative MSP |
| qPCR | = | quantitative real-time PCR |
| Real-time PCR | = | quantitative real-time polymerase chain reaction |
| RNase III | = | Ribonuclease III |
| ROP | = | early retinopathy |
| SCC | = | squamous cell carcinoma |
| SiRNAs | = | small interfering RNAs |
| SIRT1 | = | sirtuin 1 |
| TET | = | ten-eleven translocation |
| TSGs | = | tumor suppressor genes |
| UBM | = | ultrasound biomicroscopy |
| UHR | = | ultra high resolution |
| UV | = | Ultraviolet |
| VEGF | = | vascular endothelial growth factor |
| VM | = | vasculogenic mimicry |
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Reviewers disclosure
Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.