Exploring the role of non-coding RNAs in retinoblastoma: mechanism of contribution, biomarker potential, therapeutic opportunities, and encountered challenges

Abstract Retinoblastoma (RB) is a primary cancer of the eye that predominantly affects children, although rare adult cases have been reported. This malignancy arises from immature retinal cells and is a major cause of vision loss in the pediatric population. In advanced stages, RB can spread to the brain and other organs. The primary driver of this disease is mutations in the RB1 tumor suppressor gene; however, the full development and advancement of RB necessitate further genetic and epigenetic changes beyond RB1 inactivation. Epigenetic alterations in RB involve various mechanisms, with non-coding RNAs (ncRNAs) playing a crucial role in tumor progression. Dysregulation of various ncRNA classes, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), has been extensively documented, highlighting their contribution to the complexity and progression of the disease. The present study aims to collect a series of previously published studies exploring the contribution of ncRNAs in RB and their potential application as diagnostic and prognostic biomarkers, as well as considering them as valuable targets in the treatment of RB. It will also address the challenges encountered during this pathway.

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Publication Details

Journal
Egyptian Journal of Medical Human Genetics
Published
2026-05-11
DOI
https://doi.org/10.1186/s43042-026-00877-x
Primary Topic
Ocular Oncology and Treatments
Type
article
Field-Weighted Citation Impact
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article

Exploring the role of non-coding RNAs in retinoblastoma: mechanism of contribution, biomarker potential, therapeutic opportunities, and encountered challenges

Faeze Ahmadi Beni, Alireza Azani, Haniyeh Ghasrsaz, Qumars Behfar et al.
Egyptian Journal of Medical Human Genetics
Ocular Oncology and Treatments
article

Exploring the role of non-coding RNAs in retinoblastoma: mechanism of contribution, biomarker potential, therapeutic opportunities, and encountered challenges

Faeze Ahmadi Beni, Alireza Azani, Haniyeh Ghasrsaz, Qumars Behfar, Safa Tahmasebi, Sepide Javankiani, Malihe Sharafi, Pegah Kavousinia, Parsa Lorestani, Mohammad Saeed Soleimani Meigoli, Vahid Ghassemifar, Zahra Mehrdad, Alireza Mojarrad
article en

Abstract

Abstract Retinoblastoma (RB) is a primary cancer of the eye that predominantly affects children, although rare adult cases have been reported. This malignancy arises from immature retinal cells and is a major cause of vision loss in the pediatric population. In advanced stages, RB can spread to the brain and other organs. The primary driver of this disease is mutations in the RB1 tumor suppressor gene; however, the full development and advancement of RB necessitate further genetic and epigenetic changes beyond RB1 inactivation. Epigenetic alterations in RB involve various mechanisms, with non-coding RNAs (ncRNAs) playing a crucial role in tumor progression. Dysregulation of various ncRNA classes, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), has been extensively documented, highlighting their contribution to the complexity and progression of the disease. The present study aims to collect a series of previously published studies exploring the contribution of ncRNAs in RB and their potential application as diagnostic and prognostic biomarkers, as well as considering them as valuable targets in the treatment of RB. It will also address the challenges encountered during this pathway.

Egyptian Journal of Medical Human GeneticsVol. 27(1)
Tarbiat Modares University (IR), Islamic Azad University, Science and Research Branch (IR), Iran University of Medical Sciences (IR), Shahid Beheshti University of Medical Sciences (IR), Tehran University of Medical Sciences (IR)
Openalex Percentile: Top 5%
Ocular Oncology and Treatments
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