ArticleNPJ precision oncology2021
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.
Article in NPJ precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed, 1 citations in OpenAlex.
- Digital PCR Quantification of a CirculatingInternational journal of molecular sciences · 2026Article
- 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
- High-throughput screening of drug libraries identifies a new synergistic drug combination for the treatment of retinoblastoma.PloS one · 2026Article
- Aqueous humor biomarkers in ocular oncology: Insights and advances.Cell reports. Medicine · 2025Review
- 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
- Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.Cancers · 2024Article
- The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma.Investigative ophthalmology & visual science · 2024Review
- Children's Oncology Group's 2023 blueprint for research: Rare tumors.Pediatric blood & cancer · 2023Article
- A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma: Implications for Clinical Testing.Ophthalmology science · 2023Article
- Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.NPJ precision oncology · 2023Article
- Harnessing the power of Raman spectroscopic imaging for ophthalmology.Frontiers in chemistry · 2023Review
- Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma.International journal of molecular sciences · 2022Article
- Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis.Journal of visualized experiments : JoVE · 2021Article
- Retinoblastoma: Aqueous humor liquid biopsy.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
Identifiers
What OpenQuestion holds
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.