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Insights into retinoblastoma pathogenesis: unraveling RB1, N-MYC and miRNA profiles

Mohammad Faranoush,Fatemeh Khesali,Pooya Faranoush,M. Foroughi‐Gilvaee,Parisa Shams,Negin Sadighnia,Seyyed Amir Yasin Ahmadi,Dorsa Fallah Azad,Reza Nekouian

Published 2025 in BMJ Open Ophthalmology

ABSTRACT

Objective Retinoblastoma is the most common paediatric intraocular malignancy, originating in neural retina germ cells. Early diagnosis is crucial for survival and eye preservation. This study analyses gene expression and specific microRNAs (miRNAs) in patients with retinoblastoma to enhance early diagnosis, prognosis and treatment strategies. Methods This study examined gene and miRNA expression in 18 patients with retinoblastoma and 10 healthy individuals. Peripheral blood samples were collected from all participants, and patient demographics were recorded. The analysis was performed using real-time PCR targeting the RB1 and N-MYC genes, along with the miRNAs miR-125-5p, miR-221-3p and miR-519-3p. Results The patient group consisted of 18 participants (9 males, 9 females), aged between 2 and 6 years (mean±SD: 4.8±1.33 years), with a mean diagnosis age of 3.01±1.37 years. All participants were followed for 3 years, with no fatalities. The control group comprised 10 participants (4 males, 6 females), aged 2–8 years (mean±SD: 5.01±1.77 years). 11 patients underwent enucleation due to tumour progression: 3 right eyes and 8 left eyes. Gene expression analysis showed significant downregulation of miR-125-5p, miR-519-3p and NMYC in the retinoblastoma group. RB1 downregulation and miR-221-3p upregulation were noted in most patients, but without significant associations. Conclusion miRNAs, along with RB1 and N-MYC genes, may serve as predictive and prognostic biomarkers in retinoblastoma. While previous studies have highlighted the impact of certain miRNAs on survival and clinical outcomes, our study is limited by a small sample size and lack of strong statistical correlations. Large-scale studies are needed to validate these preliminary findings and clarify their clinical significance. Understanding the role of miRNAs in cancer biology could improve retinoblastoma mechanism insights and patient care.

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