ArticleOphthalmic genetics2022
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture.
Article in Ophthalmic genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Circulating cfdna: A novel biomarker for preventing early recurrence in ischemic stroke.Journal of thrombosis and thrombolysis · 2026Review
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- [Liquid biopsy in retinoblastomas].Die Ophthalmologie · 2024Review
- RB1 CIRCULATING TUMOR DNA IN THE BLOOD OF PATIENTS WITH RETINOBLASTOMA INCREASES IN UNTREATED PATIENTS.Retina (Philadelphia, Pa.) · 2024Article
- The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit.Ocular oncology and pathology · 2023Article
- Article
- Liquid Biopsy and Ocular Tumors: A Review.Journal of current ophthalmologyReview
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
backgroundCell-free DNA analysis in cancer has gone from research to widespread clinical use in the past 10 years. At Memorial Sloan Kettering Cancer Center, we developed a technology and test to assay cell-free DNA (cfDNA) from blood (plasma) in our retinoblastoma patients.
resultscfDNA derived from intraocular retinoblastoma can be measured and quantified in the blood (plasma) of patients. It is derived from the tumor cells themselves. Simulating lesions did not have cfDNA abnormalities. cfDNA disappears quickly after cutting the optic nerve (50% gone in 10 minutes) and if cfDNA is measurable after enucleation, metastases develop. Analysis of the buffy coat can detect germline defects including very low levels of mosaicism not detected with other NGS techniques. Analysis of the buffy coat also reveals non Rb1 germline predilections to second cancers.
conclusionAnalysis of cfDNA from blood of retinoblastoma patients can be used to diagnose and manage retinoblastoma and reflect an accurate molecular profile of RB1 abnormalities of the intraocular tumor. Analysis of the germline with the buffy coat detects very low levels of mosaicism not detected with conventional methods. Liquid biopsy for retinoblastoma is already in clinical use and offers information not available with any other technique.
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