Aqueous Humor Is Superior to Blood as a Liquid Biopsy for Retinoblastoma

Abstract

Whole genome sequencing was performed on 20 matched blood and aqueous samples; tumor-associated chromosomal changes were found in 0/20 blood vs. 11/20 aqueous samples along with shorter DNA fragments. Thus, aqueous is superior to blood as a liquid biopsy for retinoblastoma.

Figures

Figure 1:

Genomic Profiles Aqueous Humor (blue) and blood (red) genomic profiles from 20 eyes of 17 patients with retinoblastoma. No significant somatic copy number alteration (SCNA) relative to the median was found in the blood of any patient, however retinoblastoma associated SCNAs are seen in the cfDNA from the AH in patients 2,3,4,5,7, 8 OD and 8 OS, 9, 10, 11 and 17. Previous work, has demonstrated that the chromosomal alterations seen in the AH are concordant with the changes in the retinoblastoma tumor (see also Figure 2, available at www.aaojournal.org). AH profiles from patients 8, 12, 13, 17 have been published previously (Berry et al. Mol Cancer Res 2018).