ArticleCancer medicine2020
Cell-free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience.
Article in Cancer medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 54 citations in OpenAlex.
- Phase II study of rucaparib and nivolumab in patients with leiomyosarcoma.Journal for immunotherapy of cancer · 2025Trial
- Digital PCR Quantification of a CirculatingInternational journal of molecular sciences · 2026Article
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- RB1 CIRCULATING TUMOR DNA IN THE BLOOD OF PATIENTS WITH RETINOBLASTOMA INCREASES IN UNTREATED PATIENTS.Retina (Philadelphia, Pa.) · 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
- Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.International journal of molecular sciences · 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
- High-Sensitivity Mutation Analysis of Cell-Free DNA for Disease Monitoring in Endometrial Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
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- Lack of complete response pretransplant is not associated with inferior overall survival for stage 4a metastatic retinoblastoma.Pediatric blood & cancer · 2023Article
- Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.Ophthalmic genetics · 2022Article
- Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture.Ophthalmic genetics · 2022Article
- Damage-Associated Molecular Patterns (DAMPs) in Retinal Disorders.International journal of molecular sciences · 2022Review
- Liquid biopsies in pediatric oncology: opportunities and obstacles.Current opinion in pediatrics · 2022Review
- Treatment of Retinoblastoma: What Is the Latest and What Is the Future.Frontiers in oncology · 2022Review
- Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis.Journal of visualized experiments : JoVE · 2021Article
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- Review
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18 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeThe enucleation rate for retinoblastoma has dropped from over 95% to under 10% in the past 10 years as a result of improvements in therapy. This reduces access to tumor tissue for molecular profiling, especially in unilateral retinoblastoma, and hinders the confirmation of somatic RB1 mutations necessary for genetic counseling. Plasma cell-free DNA (cfDNA) has provided a platform for noninvasive molecular profiling in cancer, but its applicability in low tumor burden retinoblastoma has not been shown. We analyzed cfDNA collected from 10 patients with available tumor tissue to determine whether sufficient tumorderived cfDNA is shed in plasma from retinoblastoma tumors to enable noninvasive RB1 mutation detection.
methodsTumor tissue was collected from eye enucleations in 10 patients diagnosed with advanced intra-ocular unilateral retinoblastoma, three of which went on to develop metastatic disease. Tumor RB1 mutation status was determined using an FDA-cleared tumor sequencing assay, MSK-IMPACT. Plasma samples were collected before eye enucleation and analyzed with a customized panel targeting all exons of RB1.
resultsTumor-guided genotyping detected 10 of the 13 expected somatic RB1 mutations in plasma cfDNA in 8 of 10 patients (average variant allele frequency 3.78%). Without referring to RB1 status in the tumor, de novo mutation calling identified 7 of the 13 expected RB1 mutations (in 6 of 10 patients) with high confidence.
conclusionPlasma cfDNA can detect somatic RB1 mutations in patients with unilateral retinoblastoma. Since intraocular biopsies are avoided in these patients because of concern about spreading tumor, cfDNA can potentially offer a noninvasive platform to guide clinical decisions about treatment, follow-up schemes, and risk of metastasis.
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