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New research · Ophthalmology
NPJ precision oncology · 17h
Cohort studyNPJ precision oncology · 2026

Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.

Laura A T Kagami, Eirini Christodoulou, Venkata Yellapantula … Jesse L Berry
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OphthalmologyCohort study

Aqueous humor liquid biopsy detected active retinoblastoma with 98% sensitivity.

Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.

Laura A T Kagami … Jesse L Berry
NPJ precision oncology · 2026
Methods

We present LBSeq4Kids results from a prospective cohort of 60 ocular oncology patients, including 41 with retinoblastoma (retinoblastoma),13 with non-malignant retinoblastoma simulating lesions and six with other intraocular malignancies.

n = 60 ocular oncology patients
Results
98%
assay correctly flagged active tumors in nearly all confirmed cases
n = 60 ocular oncology patients
More results

LBSeq4Kids is a clinically validated liquid biopsy platform combining low passage whole genome sequencing (low passage whole genome sequencing) for copy number alterations (copy number alterations) and a custom cancer targeted sequencing panel (targeted sequencing panel) to detect sequence variants in cell-free DNA from the aqueous humor (aqueous humor) of the eye, cerebrospinal fluid, and plasma.

More results

Ninety-four percent of baseline retinoblastoma samples obtained at diagnosis were positive for copy number alterations by low passage whole genome sequencing and 83% were positive for pathogenic variants by targeted sequencing panel analysis.

“
Conclusion

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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