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Children's Hospital LA Researcher Wins $2.8M NIH Grant for Retinoblastoma Liquid Biopsy Study

This article was edited to clarify that while the aqueous humor is easily accessible, the tumor itself is difficult to access, and that direct biopsy of the tumor, not the aqueous humor, can cause tumor cells to spread.

NEW YORK – Children's Hospital Los Angeles researcher Jesse Berry has been awarded a $2.8 million grant from the National Institutes of Health to conduct a prospective clinical study of a liquid biopsy to diagnose retinoblastoma.

Berry, director of ocular oncology and the retinoblastoma program at CHLA, pioneered a liquid biopsy technique for sampling cell-free DNA in the aqueous humor, a pocket of liquid in the front of the eye. Direct biopsies of retinoblastoma tumors had previously been complicated by the risk that the procedure would cause tumor cells to spread. This would complicate diagnosis and prevent researchers from studying these rare tumors.

Retinoblastomas, Berry said in a statement, consist of "a thick liquid, and it's difficult to physically get to."

In addition to being able to analyze tumor-related chromosomal copy number changes, Berry has also used her technique to explore epigenetic signatures predictive of tumor growth and treatment response.

The current study will take place across 18 locations, including within the US and Canada, and will follow participants for at least two years to monitor for cancer recurrence. All samples will be processed at CHLA, under the direction of Berry, who is the sole principal investigator named on the grant.

Clinicians currently lack reliable ways to make a prognosis for retinoblastoma, complicating treatment decisions and questions of therapy response. Failure to respond to therapy typically results in the surgical removal of the affected eye(s).

"We know that detecting a cancer as early as possible gives a child the best chance," Berry said. "In continuing to take biopsies from these children, we can treat any recurrences early on, even before they're visible to a clinician upon examination."

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