A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma

• DOI: 10.1016/j.xops.2023.100289
• Publication Date: 2023-02-20T05:21:29Z
• Authors: Deborah H. Im; Sarah Pike; Mark W. Reid; Chen-Ching Peng; Shreya Sirivolu; Hans E. Grossniklaus; G. Baker Hubbard; Alison H. Skalet; Kellyn N. Bellsmith; Carol L. Shields; Sara E. Lally; Andrew W. Stacey; Bibiana J. Reiser; Aaron Nagiel; Rachana Shah; Liya Xu; Jesse L. Berry
• Keywords: Liquid biopsy; Retinoblastoma

Retinoblastoma (RB) is most often diagnosed with clinical features and not tumor biopsy. This study describes tumor-derived analyte concentrations from aqueous humor (AH) liquid biopsy its use in assays.Case series study.Sixty-two RB eyes 55 children 14 control 12 4 medical centers.This included 128 AH samples including: diagnostic (DX) samples, undergoing treatment (TX), after completing (END), during bevacizumab injection for radiation therapy (BEV). Fourteen-control were analyzed unprocessed analytes (double-stranded DNA [dsDNA], single-stranded [ssDNA], micro-RNA [miRNA], RNA, protein) Qubit fluorescence assays. Double-stranded 2 underwent low-pass whole-genome sequencing to detect somatic copy number alterations. Logistic regression was used predict disease burden given concentrations.Unprocessed (dsDNA, ssDNA, miRNA, RNA concentrations.Results revealed dsDNA, proteins, but quantifiable (up 98%) Median dsDNA concentration significantly higher DX (3.08 ng/μl) compared TX (0.18 ng/μl; P < 0.0001) at an order of 17 times greater 20 than END (0.15 = 0.001). Using logistic regression, nucleic acid useful predicting versus lower burden. alterations identified a TX, BEV sample, indicating the correlation activity.Aqueous high-yield source protein. Diagnostic are 1 gene mutational analyses. Genomic analysis may be more informative activity status quantification alone can performed even smaller obtained samples.Proprietary or commercial disclosure found references.