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The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Apr 20, 2026

Reconstruct Human Retinoblastoma In Vitro

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Retinoblastoma.

Carlos Rodriguez-Galindo¹, Darren B Orbach², Deborah VanderVeen³

¹Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, 450 Brookline Avenue, D3-133, Boston, MA 02215, USA.

Pediatric Clinics of North America

|December 2, 2014

Summary

This summary is machine-generated.

Retinoblastoma is the most common childhood eye cancer, affecting very young children. This cancer has heritable and non-heritable forms, requiring multidisciplinary treatment to preserve life and vision.

Keywords:

Chemotherapy Germline mutation Retinoblastoma Second malignant neoplasms

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Published on: January 22, 2018

Area of Science:

Ophthalmology
Pediatric Oncology
Genetics

Background:

Retinoblastoma is the most frequent pediatric eye neoplasm, accounting for 3% of childhood cancers.
It predominantly affects very young children, with 95% of diagnoses occurring before age five.
Two forms exist: heritable (25%, with RB1 gene mutations) and non-heritable (75%).

Purpose of the Study:

To summarize the key characteristics of retinoblastoma.
To outline the distinct clinical presentations and genetic basis of the disease.
To emphasize the treatment goals for retinoblastoma.

Main Methods:

Literature review of retinoblastoma epidemiology and clinical presentation.
Analysis of genetic factors, specifically RB1 gene mutations.
Overview of current multidisciplinary treatment strategies.

Main Results:

Retinoblastoma is primarily diagnosed in children under five years old.
A significant portion (25%) is linked to inherited RB1 gene mutations, presenting as bilateral or multifocal disease.
The majority (75%) is unilateral/unifocal and often non-hereditary.

Conclusions:

Retinoblastoma management requires a multidisciplinary approach.
Early diagnosis and understanding of genetic predispositions are crucial.
The primary objectives are life preservation and vision salvage.