Clinical Report: Genetic Testing in Retinoblastoma: New Applications

Overview

Recent advancements in genetic testing for retinoblastoma have expanded its role in diagnosis and prognosis, particularly through liquid biopsy and molecular profiling.

Background

Retinoblastoma, a pediatric eye cancer, can manifest in heritable and nonheritable forms, necessitating accurate genetic testing. Understanding the genetic underpinnings is crucial for ophthalmologists to counsel families and identify at-risk children.

Data Highlights

No numerical data available.

Key Findings

• Liquid biopsy and molecular profiling are enhancing the diagnostic capabilities for retinoblastoma.
• Aqueous humor liquid biopsy demonstrated a feasibility rate of 98% and sensitivity of 98% for detecting active disease.
• Circulating tumor DNA (ctDNA) can be detected in up to 85% of patients with untreated unilateral retinoblastoma.
• Genomic analysis of aqueous humor cfDNA accurately reflects somatic copy number alterations present in tumors.
• False-negative results may occur in small tumors or those retaining an intact RB1 gene.

Clinical Implications

Ophthalmologists should consider the integration of liquid biopsy techniques in the diagnostic process for retinoblastoma.

Conclusion

Advancements in genetic testing, particularly through liquid biopsy, provide tools for the diagnosis and management of retinoblastoma.

Related Resources & Content

1. Retinal Physician, June 2023 -- Cell-free DNA in Noninvasive Diagnosis of Retinoblastoma
2. Retinal Physician, February 2025 -- New Test Detects Parent of Origin in Hereditary Eye Cancer
3. Ophthalmic Professional, January 2020 -- Introduction to gene therapy
4. Clinical Cancer Research -- Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children
5. NCI -- Retinoblastoma Treatment (PDQ®)
6. PubMed -- Management of Intraocular Retinoblastoma: ICMR Consensus Guidelines
7. PubMed -- Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma
8. retinal physician — Cell-free DNA in Noninvasive Diagnosis of Retinoblastoma
9. Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children | Clinical Cancer Research | American Association for Cancer Research
10. Retinoblastoma Treatment (PDQ®) - NCI
11. Management of Intraocular Retinoblastoma: ICMR Consensus Guidelines - PubMed
12. Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress - PubMed
13. Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children | Clinical Cancer Research | American Association for Cancer Research
14. 006 Liquid gold: a clinically validated molecular test for retinoblastoma using an aqueous humor liquid biopsy - ScienceDirect
15. Prognostic importance of direct assignment of parent of origin via
16. Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test | Cancer Biomarkers | JAMA Ophthalmology | JAMA Network