Retinoblastoma: from discovery to clinical management

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.