ArticleMolecular cancer research : MCR2020
Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival.
Article in Molecular cancer research : MCR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04959097 (Retinoblastoma Patient Clinical Database and Tissue Repository), which is not on this map. Cited by 34 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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Retinoblastoma Patient Clinical Database and Tissue Repository
Who cites it
34 citing papers in PubMed, 63 citations in OpenAlex.
- Safety Assessment of Aqueous Humor Liquid Biopsy in Retinoblastoma: A Multicenter Study of 1203 Procedures.Ophthalmology · 2026Article
- A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.Genes · 2025Article
- Aqueous humor biomarkers in ocular oncology: Insights and advances.Cell reports. Medicine · 2025Review
- Aqueous Humor Liquid Biopsy Identifies Murine Double Minute 4 Segmental Gain in Retinoblastoma: Implications for Chemotherapy Response and Precision Oncology.JCO precision oncology · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- [Liquid biopsy in retinoblastomas].Die Ophthalmologie · 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
- 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
- A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma: Implications for Clinical Testing.Ophthalmology science · 2023Article
- Children's Oncology Group's 2023 blueprint for research: Rare tumors.Pediatric blood & cancer · 2023Article
- CD63/81 Small Extracellular Vesicles in the Aqueous Humor are Retinoblastoma Associated.Investigative ophthalmology & visual science · 2023Article
- Circulating Cell-Free Tumor Deoxyribonucleic Acid Analysis as a Tool for the Diagnosis and Monitoring of Pediatric Solid Tumors.Turkish archives of pediatrics · 2023Article
- Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients.The journal of pathology. Clinical research · 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
- Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.Ophthalmic genetics · 2022Article
- Proteomics of Aqueous Humor as a Source of Disease Biomarkers in Retinoblastoma.International journal of molecular sciences · 2022Article
- Development and characterization of DNA aptamer against Retinoblastoma by Cell-SELEX.Scientific reports · 2022Article
- Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Aqueous humor contains tumor-derived cell-free DNA (cfDNA) and can serve as a liquid biopsy for retinoblastoma. We previously associated somatic copy-number alteration (SCNA) 6p gain with a 10-fold increased risk of enucleation. Here we provide a 2-year update to further explore 6p gain as a prognostic biomarker for ocular survival. Patients diagnosed with retinoblastoma from December 2014 to July 2019 from whom aqueous humor was sampled were included. cfDNA was extracted and shallow whole-genome sequencing performed to identify highly recurrent retinoblastoma SCNAs (gain of 1q, 2p, 6p, loss of 13q, 16q). 116 aqueous humor samples from 50 eyes of 46 patients were included: 27 eyes were salvaged, 23 were enucleated. Highly recurrent retinoblastoma SCNAs were found in 66% eyes. 6p gain was the most prevalent SCNA (50% eyes). It was particularly more prevalent in enucleated eyes (73.9%) than in salvaged eyes (29.6%;
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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.