Aqueous humor holds potential as surrogate biopsy of retinoblastoma
Click Here to Manage Email Alerts
WAILEA, Hawaii — New research using liquid biopsy presents a new opportunity for treating retinoblastoma.
Currently, retinoblastoma is diagnosed clinically, without biopsy, to avoid extraocular tumor seeding. In ongoing research, Jesse L. Berry, MD, of USC Roski Eye Institute, and colleagues are finding potential for using aqueous humor, obtained safely, as a means of diagnosing retinoblastoma, prognosing and monitoring therapeutic response.
“Retinoblastoma is the most common ocular tumor in children, but it is thankfully a rare disease,” Berry said at Retina 2021. “We know that those cancers start with genetic mutation but require other chromosomal alterations to grow and thrive. For most cancers, you see something, you biopsy it, you get some molecular information that helps with diagnosis, prognosis and sometimes treatment. But for retinal blastoma, the diagnosis is made on clinical features alone,” she said.
Classification is also made clinically, with about 80% of patients presenting with more severe classifications, wherein there is only a 50% chance of saving the eye with treatment, she said.
Even though retinoblastoma can be diagnosed without biopsy, lack of biopsy means there is no eye-specific diagnostic and prognostic molecular biomarkers, no personalized treatment plan and limited understanding of “in vivo” tumorigenesis, meaning no identification of new mutations and chromosomal alterations that develop.
With safe access to aqueous humor, however, there is a means of using the liquid biopsy as a surrogate to biopsy retinoblastoma.
“If a tumor biopsy can give you a snapshot into what’s going on at the level of the cancer, a liquid biopsy gives you a more comprehensive picture of the entire tumor, because the entire tumor, all the forms of that tumor, are shedding into that liquid,” she said. “And a longitudinal liquid biopsy can actually show you how that tumor is evolving over time.”
Collapse
Berry JL. Aqueous humor as a liquid biopsy for retinoblastoma: What it can and cannot do. Presented at: Retina 2021; May 9-14, 2021; Wailea, Hawaii.
Read more about
Click Here to Manage Email Alerts