Retinoblastoma: from discovery to clinical management
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Updated: Nov 4, 2025
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Mayra Martínez-Sánchez1, Jesús Hernandez-Monge2, Martha Rangel3
1Laboratorio de Interacciones Biomoleculares y Cancer, Instituto de Física, Universidad Autónoma de San Luis Potosí, Mexico.
Abstract:
The retinoblastoma gene (RB1) was the first tumour suppressor cloned; the role of its protein product (RB) as the principal driver of the G1 checkpoint in cell cycle control has been extensively studied. However, many other RB functions are continuously reported. Its role in senescence, DNA repair and apoptosis, among others, is indications of the significance of RB in a vast network of cellular interactions, explaining why RB loss or its malfunction is one of the leading causes of a large number of paediatric and adult cancers. RB was first reported in retinoblastoma, a common intraocular malignancy in the paediatric population worldwide. Currently, its diagnosis is clinical, and in nondeveloped countries, where the incidence is higher, it is performed in advanced stages of the disease, compromising the integrity of the eye and the patient's life. Even though new treatments are being continuously developed, enucleation is still a major choice due to the late disease stage diagnosis and treatments costs. Research into biomarkers is our best option to improve the chances of good results in the treatment and hopes of patients' good quality of life. Here, we recapitulated the history of the disease and the first treatments to put the advances in its clinical management into perspective. We also review the different functions of the protein and the progress in the search for biomarkers. It is clear that there is still a long way to go, but we should offer these children and their families a better way to deal with the disease with the community's effort.
Insights
The retinoblastoma gene (RB1) protein (RB) is crucial for cell cycle control and preventing cancers. Research into RB functions and biomarkers is vital for improving retinoblastoma diagnosis and treatment outcomes.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The retinoblastoma gene (RB1) and its protein (RB) are key regulators of the cell cycle's G1 checkpoint.
- RB protein also plays significant roles in senescence, DNA repair, and apoptosis.
- RB loss or malfunction is a primary cause of numerous pediatric and adult cancers, including retinoblastoma.
Purpose of the Study:
- To review the history and clinical management of retinoblastoma.
- To explore the diverse functions of the RB protein beyond cell cycle control.
- To highlight the progress in identifying biomarkers for improved retinoblastoma diagnosis and treatment.
Main Methods:
- Literature review of retinoblastoma history and RB protein functions.
- Analysis of current clinical management strategies for retinoblastoma.
- Synthesis of research findings on potential biomarkers for retinoblastoma.
Main Results:
- RB1 is the first cloned tumor suppressor gene, with its protein (RB) being central to cell cycle regulation.
- RB protein's multifaceted roles underscore its importance in preventing various cancers.
- Retinoblastoma diagnosis is often delayed in developing countries, leading to poor outcomes and enucleation.
Conclusions:
- Despite advances, enucleation remains common for retinoblastoma due to late diagnosis and treatment costs.
- Further research into RB protein functions and biomarkers is essential for enhancing treatment efficacy and patient quality of life.
- Community efforts are needed to improve the management of retinoblastoma for affected children and their families.
