Research progress in epigenetic research on the pathogenesis of retinoblastoma_Chinese Journal of Ocular Fundus Diseases

Authors：

Zhou Yuan ,  Li Cairui

Department of Ophthalmology, The Third Affiliated Hospital of Dali University, Dali 671000, China;

Corresponding author：

Li Cairui, Email: lcrbrett@163.com

Keywords：

Retinoblastoma; Epigenetics; DNA methylation; Histone modification; Review

DOI：

10.3760/cma.j.cn511434-20250217-00057

Video：

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Abstract Full text Figures/Tables Video References Cited by

Retinoblastoma (RB) is a common intraocular tumor in children, often leading to blindness or disability, and its pathogenesis involves genetic and epigenetic regulation. Epigenetics regulates gene expression through mechanisms such as DNA methylation and histone modification without altering the DNA sequence, and the imbalance of its homeostasis is considered a crucial factor in the development and progression of RB. Therapeutic strategies targeting these abnormal modifications offer new potential treatment avenues for RB. Although current research has highlighted the importance of epigenetics in RB, the specific mechanisms of action, the relationship with genetic bases, and the development of targeted drugs remain largely unknown. Therefore, further in-depth research into the epigenetic mechanisms of RB is of great significance for elucidating its carcinogenic mechanisms, identifying effective therapeutic targets, and developing new drugs.

Citation： Zhou Yuan, Li Cairui. Research progress in epigenetic research on the pathogenesis of retinoblastoma. Chinese Journal of Ocular Fundus Diseases, 2025, 41(7): 566-571. doi: 10.3760/cma.j.cn511434-20250217-00057 Copy

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21. Bennett RL, Licht JD. Targeting epigenetics in cancer[J]. Annu Rev Pharmacol Toxicol, 2018, 58: 187-207. DOI: 10.1146/annurev-pharmtox-010716-105106.
22. Chai P, Jia R, Jia R, et al. Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis[J]. Nucleic Acids Res, 2018, 46(12): 6041-6056. DOI: 10.1093/nar/gky366.
23. Xu L, Li W, Shi Q, et al. MicroRNA-936 inhibits the malignant phenotype of retinoblastoma by directly targeting HDAC9 and deactivating the PI3K/AKT pathway[J]. Oncol Rep, 2020, 43(2): 635-645. DOI: 10.3892/or.2020.7456.
24. Zhang B, Pan X, Cobb GP, et al. microRNAs as oncogenes and tumor suppressors[J]. Dev Biol, 2007, 302(1): 1-12. DOI: 10.1016/j.ydbio.2006.08.028.
25. Marzi MJ, Puggioni EM, Dall'Olio V, et al. Differentiation-associated microRNAs antagonize the Rb-E2F pathway to restrict proliferation[J]. J Cell Biol, 2012, 199(1): 77-95. DOI: 10.1083/jcb.201206033.
26. Dalgard CL, Gonzalez M, deNiro JE, et al. Differential microRNA-34a expression and tumor suppressor function in retinoblastoma cells[J]. Invest Ophthalmol Vis Sci, 2009, 50(10): 4542-4551. DOI: 10.1167/iovs.09-3520.
27. Liu K, Huang J, Xie M, et al. MIR34A regulates autophagy and apoptosis by targeting HMGB1 in the retinoblastoma cell[J]. Autophagy, 2014, 10(3): 442-452. DOI: 10.4161/auto.27418.
28. Danda R, Krishnan G, Ganapathy K, et al. Targeted expression of suicide gene by tissue-specific promoter and microRNA regulation for cancer gene therapy[J/OL]. PLoS One, 2013, 8(12): e83398[2013-12-31]. https://pubmed.ncbi.nlm.nih.gov/24391761/. DOI: 10.1371/journal.pone.0083398.
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