RB Liquid Biopsy Biorepository

Study Overview
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Brief Summary
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Retinoblastoma (RB) is a primary eye cancer that forms in the back of the eye of infants and toddlers. Traditionally, RB is diagnosed without a biopsy; tumor can only be studied once an eye has been surgically removed. Given this limitation, we use aqueous humor (AH), the clear fluid in the front of the eye to detect specific markers, or information, that comes from the tumor itself.

Detailed Description
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Retinoblastoma (RB) is a primary intraocular malignancy that forms in the retina of infants and toddlers. Traditionally, RB is diagnosed without tissue as direct tumor biopsy is prohibited due to risk of extraocular spread; tissue can only be obtained once an eye has been surgically removed. Given this limitation, there are no eye-specific molecular biomarkers in current clinical practice for RB. The lack of in vivo molecular data without removing the eye limits our ability to prognosticate clinical outcomes and develop personalized treatment plans. It also limits our understanding of intratumoral dynamics throughout therapy. The aqueous humor (AH) is a high-yield source of tumor-derived nucleic acid that can be utilized as a liquid biopsy in eyes with retinoblastoma. Detection of biomarkers from the AH may be used to prognosticate the likelihood of eye salvage and in the future may facilitate targeted, patient-centered therapies based on molecular biomarkers. OBJECTIVES: Systematically and prospectively record accurate and complete data regarding the clinical presentation, treatment, and outcomes of patients diagnosed with RB. Collect, bank, preserve, and analyze biomaterials including AH, blood and saliva from patients with RB. Correlate phenotypic data with genotypic findings from human biomaterials in retinoblastoma patients to identify clinically relevant biomarkers

Official Title
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Retinoblastoma Patient Clinical Database, Liquid Biopsy and Tissue Biorepository

Conditions
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Retinoblastoma, Retinoblastoma Bilateral, Retinoblastoma Unilateral

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients, age 0 days to 18 years, with a diagnosis unilateral or bilateral retinoblastoma (RB) seen at CHLA (Children's Hospital Los Angeles). Exclusion Criteria: Patients referred for second opinions only and not treated at CHLA for any reason.

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Correlation of Ocular Salvage (eye saved) with biomarkers | We aim to evaluate whether any identifiable molecular biomarkers (e.g. chromosomal alterations or tumor fraction) in the aqueous or blood can predict ocular salvage, or the likelihood of saving the eye with therapy | through study completion, a minimum of 12 months after diagnosis and average of 24 months | 
| Identification of RB1 (RB Transcriptional Corepressor 1) gene mutations from the AH liquid biopsy | We aim to identify both somatic and germline RB1 gene mutations in the AH | through study completion, a minimum of 12 months after diagnosis and average of 24 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Correlation of High-Risk Histopathologic Features with presence of biomarkers | We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood can predict the presence of high risk histopathologic features that are known to increase risk of metastatic disease | through study completion, a minimum of 12 months after diagnosis and average of 24 months (only if the eye is enucleated) | 
| Correlation of class of Seeding with presence of biomarkers | We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood are associated with the presence of type of seeding | through study completion, a minimum of 12 months after diagnosis and average of 24 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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RB, Retinoblastoma, Ocular oncology, Aqueous humor