Aqueous humor plays role in diagnostic, prognostic management of retinoblastoma
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MONTEREY, Calif. — The aqueous humor is important for diagnosis, prognosis and objective monitoring of treatment response in cases of retinoblastoma, Jesse L. Berry, MD, told colleagues here.
Further, it is an eye-specific liquid biopsy.
“The aqueous is powerful. It can tell you things that you can’t see,” Berry said at the Women in Ophthalmology Summer Symposium.
It is well established that tumor DNA from the retinoblastoma that is forming in the back of the eye comes forward into the aqueous humor and can be detected there via liquid biopsy, Berry said.
“Retinoblastoma is rare among tumors in that it cannot be biopsied,” Berry said. “Thus, using the aqueous humor as a liquid biopsy overcomes this contraindication for this tumor and allows us to get molecular information about the tumor at diagnosis and during treatment.”
Additionally, retinoblastoma can form in each eye, and the aqueous humor is specific to each eye, she said.
Over the past 5 years, research has shown that the aqueous humor is an enriched source of tumor-derived DNA, Berry said.
“Patients with 6p gain in the aqueous humor were far less likely to respond to treatment,” and only 9% of eyes were saved when 6p gain was present, Berry said.
As an objective molecular biomarker, the aqueous humor allows for real-time monitoring.
“An objective molecular biomarker is better than us just looking in the eye,” she said.
Future efforts may yield a clinically validated assay for retinoblastoma, Berry said.
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Berry J. Liquid biopsy for intraocular tumors. Presented at: Women in Ophthalmology Summer Symposium; Aug. 25-28, 2022; Monterey, California (hybrid meeting).
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