ArticleNPJ precision oncology2026
Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.
Article in NPJ precision oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Intra-arterial chemotherapy for retinoblastoma: a structured narrative review.World journal of pediatric surgery · 2026Review
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Authors and funding
17 authors.
Funding
Abstract
LBSeq4Kids is a clinically validated liquid biopsy platform combining low passage whole genome sequencing (LP-WGS) for copy number alterations (CNAs) and a custom cancer targeted sequencing panel (TSP) to detect sequence variants in cell-free DNA from the aqueous humor (AH) of the eye, cerebrospinal fluid, and plasma. We present LBSeq4Kids results from a prospective cohort of 60 ocular oncology patients, including 41 with retinoblastoma (RB),13 with non-malignant RB simulating lesions and six with other intraocular malignancies. Ninety-four percent of baseline RB samples obtained at diagnosis were positive for CNAs by LP-WGS and 83% were positive for pathogenic variants by TSP analysis. All samples obtained at clinical recurrence were positive for ctDNA whereas none of the eyes in remission had a positive finding. The presence of CNAs detected by serial sampling in patients being treated for RB was correlated with clinical disease status. None of the patients with RB-simulating lesions had a positive finding by LP-WGS. The sensitivity of the assay to detect ctDNA in the setting of active RB was 98%. LBSeq4Kids represents a groundbreaking improvement for intraocular malignancies and is highly effective in informing accurate diagnosis, risk stratification, response to therapy, and surveillance.
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