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Review

Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation

by
Georgios Kiosis
1,2,†,
Kanellos Skourtsidis
1,2,*,†,
Despoina Ioannou
1,2,
Vasilis-Spyridon Tseriotis
3,4,
Konstantinos Stergiou
1,2,
Fani Akritidou
1,5,
Theodora Papamitsou
1,5,
Maria Kourti
1,6,* and
Sofia Karachrysafi
1,5
1
Research Team “Histologistas”, Interinstitutional Postgraduate Program “Health and Environmental Factors”, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece
2
Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece
3
Department of Neurology, General Hospital of Thessaloniki “Agios Pavlos”, 551 34 Thessaloniki, Greece
4
Laboratory of Clinical Pharmacology, Medical School, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece
5
Laboratory of Histology-Embryology, Medical School, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece
6
Pediatric & Adolescent Hematology Oncology Unit, 2nd Pediatric Department, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA Hospital, 546 36 Thessaloniki, Greece
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Curr. Issues Mol. Biol. 2025, 47(10), 844; https://doi.org/10.3390/cimb47100844 (registering DOI)
Submission received: 23 September 2025 / Revised: 8 October 2025 / Accepted: 13 October 2025 / Published: 14 October 2025
(This article belongs to the Section Molecular Medicine)
Versions Notes

Abstract

(Background) Retinoblastoma is the most common intraocular malignancy in childhood, primarily caused by mutations in the RB1 gene. However, increasing evidence highlights the significant role of epigenetic mechanisms, particularly DNA methylation and histone acetylation, in tumor initiation and progression. This review aims to summarize and critically assess recent findings on how DNA methylation and histone acetylation contribute to the pathogenesis of retinoblastoma, and to explore their potential role as diagnostic biomarkers and therapeutic targets. (Methods) We searched the databases PubMed, Scopus, and ScienceDirect following PRISMA guidelines. Eligible studies were English-language, open-access articles published within the last ten years, including cohort studies, research articles, and case reports. After rigorous screening, 18 studies were included in the final analysis. (Results) Aberrant DNA methylation was found to inactivate tumor suppressor genes (RB1, RASSF1A, p16INK4A, MGMT) and promote oncogenesis through hypermethylation of regulatory elements. Similarly, histone acetylation’s dysregulation contributed to chromatin remodeling and overexpression of oncogenic factors such as SYK, GALNT8, and lincRNA-ROR. Elevated histone deacetylase (HDAC) activity was also linked to tumor cell proliferation, metastasis, and treatment resistance. Epigenetic inhibitors targeting these pathways demonstrated promising therapeutic potential. (Conclusions) DNA methylation and histone acetylation play a crucial role in the epigenetic regulation of genes implicated in retinoblastoma. Their dysregulation promotes tumorigenesis, and targeting these mechanisms represents a promising avenue for novel diagnostic and therapeutic strategies in pediatric oncology.
Keywords: retinoblastoma; epigenetics; DNA methylation; histone acetylation retinoblastoma; epigenetics; DNA methylation; histone acetylation

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MDPI and ACS Style

Kiosis, G.; Skourtsidis, K.; Ioannou, D.; Tseriotis, V.-S.; Stergiou, K.; Akritidou, F.; Papamitsou, T.; Kourti, M.; Karachrysafi, S. Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation. Curr. Issues Mol. Biol. 2025, 47, 844. https://doi.org/10.3390/cimb47100844

AMA Style

Kiosis G, Skourtsidis K, Ioannou D, Tseriotis V-S, Stergiou K, Akritidou F, Papamitsou T, Kourti M, Karachrysafi S. Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation. Current Issues in Molecular Biology. 2025; 47(10):844. https://doi.org/10.3390/cimb47100844

Chicago/Turabian Style

Kiosis, Georgios, Kanellos Skourtsidis, Despoina Ioannou, Vasilis-Spyridon Tseriotis, Konstantinos Stergiou, Fani Akritidou, Theodora Papamitsou, Maria Kourti, and Sofia Karachrysafi. 2025. "Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation" Current Issues in Molecular Biology 47, no. 10: 844. https://doi.org/10.3390/cimb47100844

APA Style

Kiosis, G., Skourtsidis, K., Ioannou, D., Tseriotis, V.-S., Stergiou, K., Akritidou, F., Papamitsou, T., Kourti, M., & Karachrysafi, S. (2025). Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation. Current Issues in Molecular Biology, 47(10), 844. https://doi.org/10.3390/cimb47100844

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