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Comment & Response
May 2018

Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma

Author Affiliations
  • 1Emory University School of Medicine, Atlanta, Georgia
  • 2Emory Eye Center, Atlanta, Georgia
JAMA Ophthalmol. 2018;136(5):597-598. doi:10.1001/jamaophthalmol.2018.0392

To the Editor Recent advances in sequencing technologies have generated extensive interest and research in cell-free DNA as a cancer biomarker.1 In their study on the use of aqueous humor as a surrogate tumor biopsy for the diagnosis of retinoblastoma, Berry et al2 pioneer the use of cell-free DNA from the aqueous humor (AH) to characterize the genetics of retinoblastoma tumors in 3 pediatric patients. Given the lack of feasibility of tissue biopsy in this disease, the clinical utility of a liquid biopsy for assessing RB genetic status is clear. While these results lay the foundation for AH liquid biopsy development, questions on the study and on the best path forward remain.