ArticleJournal of visualized experiments : JoVE2021
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis.
Article in Journal of visualized experiments : JoVE, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- Liquid Biopsy-Based Metabolomics in Epithelial Ovarian Cancer: Challenges, Methodological Advances and Translational Considerations.Diagnostics (Basel, Switzerland) · 2026Review
- Safety Assessment of Aqueous Humor Liquid Biopsy in Retinoblastoma: A Multicenter Study of 1203 Procedures.Ophthalmology · 2026Article
- Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.NPJ precision oncology · 2026Article
- Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation Sequence Panel.International journal of molecular sciences · 2025Article
- Challenges and Outcomes of Retinoblastoma Treatment in Ethiopia A Case of Jimma University Medical Center, Southwest Ethiopia.Ethiopian journal of health sciences · 2025Article
- Multicentre analysis of nucleic acid quantification using aqueous humour liquid biopsy in uveal melanoma: implications for clinical testing.Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2025Article
- The use of aqueous humor cfDNA for low-pass whole genome sequencing as a clinical test to identify intraocular retinoblastoma recurrence.ScienceBank · 2025Article
- Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma.Ophthalmic genetics · 2024Article
- Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma.Cancers · 2024Review
- Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress.American journal of ophthalmology · 2024Observational
- Aqueous VEGF-A Levels as a Liquid Biopsy Biomarker of Retinoblastoma Vitreous Seed Response to Therapy.Investigative ophthalmology & visual science · 2024Article
- Comparative Single Vesicle Analysis of Aqueous Humor Extracellular Vesicles before and after Radiation in Uveal Melanoma Eyes.International journal of molecular sciences · 2024Article
- Retinoblastoma with MYCN Amplification Diagnosed from Cell-Free DNA in the Aqueous Humor.Ocular oncology and pathology · 2024Article
- Liquid Biopsy Proteomics in Ophthalmology.Journal of proteome research · 2024Review
- The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma.Investigative ophthalmology & visual science · 2024Review
- A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma: Implications for Clinical Testing.Ophthalmology science · 2023Article
- CD63/81 Small Extracellular Vesicles in the Aqueous Humor are Retinoblastoma Associated.Investigative ophthalmology & visual science · 2023Article
- Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.NPJ precision oncology · 2023Article
- Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA.Ophthalmic genetics · 2022Article
- Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
There is significant potential clinical utility for the application of a liquid biopsy platform for retinoblastoma, given that direct tumor biopsy is prohibited in these patients. The aqueous humor (AH) forms in a separate compartment from the tumor but is enclosed within the same ocular space. Thus, it is an enriched source of eye-specific tumoral genomic information that can be used as a liquid biopsy or surrogate to tumor biopsy for this disease. This manuscript details a methodology for safely extracting the AH from retinoblastoma eyes via clear corneal paracentesis. Additionally, the steps for genomic analysis, including cell-free DNA isolation and purification, next-generation sequencing, somatic copy number alteration (SCNA) analysis, RB1 single nucleotide variant (SNV) mutation identification, and tumor fraction estimation are presented. The pre-analytical, analytical, and early clinical validity of the AH liquid biopsy platform have been evaluated; however, it is not without limitations. These are largely a consequence of the quantity of cell-free DNA that is required for certain steps of the assay. Compared to other blood-based liquid biopsy platforms currently under investigation for retinoblastoma, an AH-based platform is limited by the volume of biofluid (and thus the quantity of DNA) that can be extracted from the eye; the benefit is that AH is eye-specific. The platform discussed here is unique in that it detects circulating tumor DNA in the AH via two mechanisms (SCNAs and RB1 SNVs), yielding a higher sensitivity for identifying tumoral genomic information. The AH liquid biopsy has the potential for direct clinical application to precision oncology for retinoblastoma patients, with particular importance for patients with bilateral disease as the AH is specific to the tumors in each eye. There is ongoing research with applications of this platform to patients with other ocular tumors as well.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.