“Chromosomal changes from DNA found in the aqueous humor corroborates the chromosomal changes found in the retinoblastoma tumor,” said James Hicks, PhD, professor of Biologic Sciences at the USC Michelson Center for Convergent Bioscience and professor at the Keck School of Medicine at USC. “These findings provide proof of principle that the aqueous humor can be used for a surrogate ‘liquid’ tumor biopsy.”

The study reported on six samples from three eyes affected with retinoblastoma, in children less than 3 years of age. Two of the eyes had been removed primarily for treatment of the disease; the third eye was receiving intraocular injections as therapy but ultimately had to be removed due to disease recurrence. Aqueous humor was taken from all three eyes and allowed investigators to compare tumor DNA in the aqueous humor to DNA found in the retinoblastoma tumor.


“Until now, we could only do genetic analysis – and base therapy on the specific pathologic tumor features – when there was no longer a possibility of saving the eye,” said Thomas C. Lee, MD, director of the Vision Center at CHLA and associate professor at the USC Roski Eye Institute. “In the future we hope to have the capability to specifically target therapy to the type of tumor and can anticipate better outcomes for children with retinoblastoma.”

The team of investigators plans future studies to compare tumor DNA from eyes that have been saved to those that need to be removed due to tumor recurrence.

“This research has the potential to completely transform how we treat children with retinoblastoma,” said Jonathan W. Kim, MD, director of the Retinoblastoma Program at CHLA and also director of the ocular oncology service at USC Roski Eye Institute. “This is one of the most significant findings in retinoblastoma research in the past 20 years.”

Additional contributors to the study include Jonathan W. Kim, director of the Retinoblastoma Program at CHLA, Subramanian Krishnan, Kevin Stachelek, Emily Zolfaghari, and Kathleen McGovern of the Vision Center at Children’s Hospital Los Angeles; Liya Xu, Anders Carlsson and Peter Kuhn of the University of Southern California.

This work was funded by Bright Eyes, the Nautica Foundation and the Knights Templar Eye Foundation. Additional support was provided by: Retinoblastoma International, Inc; the Larry and Celia Moh Foundation; the Institute for Families, Inc, Children’s Hospital Los Angeles; Research to Prevent Blindness; the Vicky Joseph Research Fund; the Carol Vassiliadis Research Fund; and the USC Dornsife College of Letters, Arts and Sciences.

Rad Oncology Homepage