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

Ophthalmology. 2020 Apr;127(4):552-554. doi: 10.1016/j.ophtha.2019.10.026. Epub 2019 Oct 31.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aqueous Humor / metabolism*
  • Cell-Free Nucleic Acids
  • Child, Preschool
  • DNA, Neoplasm / genetics
  • Humans
  • Infant
  • Liquid Biopsy
  • Retinal Neoplasms / blood*
  • Retinal Neoplasms / diagnosis
  • Retinoblastoma / blood*
  • Retinoblastoma / diagnosis
  • Retinoblastoma Binding Proteins / metabolism*
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • Cell-Free Nucleic Acids
  • DNA, Neoplasm
  • RB1 protein, human
  • Retinoblastoma Binding Proteins
  • Ubiquitin-Protein Ligases