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Updated: Aug 3, 2025
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Biobanking of Human Aqueous and Vitreous Liquid Biopsies for Molecular Analyses
Published on: September 11, 2023
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A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma:
Deborah H Im1,2, Sarah Pike1,2, Mark W Reid1
1Department of Surgery, Division of Ophthalmology, The Vision Center at Children's Hospital Los Angeles, Los Angeles, California.
Ophthalmology Science
|April 7, 2023
Summary
Aqueous humor liquid biopsy shows high concentrations of DNA and protein in retinoblastoma (RB) patients. These biomarkers can help predict disease burden and tumor activity, offering a less invasive diagnostic approach.
Area of Science:
- Ophthalmology
- Oncology
- Molecular Biology
Background:
- Retinoblastoma (RB) diagnosis typically relies on clinical presentation, often foregoing tumor biopsy.
- There is a need for less invasive methods to analyze tumor-derived analytes for RB diagnosis and monitoring.
Purpose of the Study:
- To describe tumor-derived analyte concentrations in aqueous humor (AH) liquid biopsies from retinoblastoma patients.
- To evaluate the utility of these analytes in clinical assays for predicting disease burden and tumor activity.
Main Methods:
- Analyzed aqueous humor samples from 62 retinoblastoma eyes and 14 control eyes.
- Quantified unprocessed analytes including double-stranded DNA (dsDNA), single-stranded DNA (ssDNA), micro-RNA (miRNA), RNA, and protein using Qubit fluorescence assays.
- Performed low-pass whole-genome sequencing on dsDNA from two RB AH samples to detect somatic copy number alterations.
Main Results:
- dsDNA, ssDNA, miRNA, and proteins were quantifiable in up to 98% of samples; RNA was not consistently quantifiable.
- Median dsDNA concentration was significantly higher in diagnostic samples compared to treatment and end-of-treatment samples.
- Nucleic acid concentrations predicted higher versus lower retinoblastoma disease burden, and copy number alterations correlated with tumor activity.
Conclusions:
- Aqueous humor liquid biopsy is a high-yield source for dsDNA, ssDNA, miRNA, and protein in retinoblastoma.
- Diagnostic samples are valuable for mutational analyses, while genomic analysis of AH can inform tumor activity status even with low analyte concentrations.
