Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study

PLoS One. 2023 Feb 3;18(2):e0271505. doi: 10.1371/journal.pone.0271505. eCollection 2023.

Abstract

Cell free DNA (cfDNA) and circulating tumor cell free DNA (ctDNA) from blood (plasma) are increasingly being used in oncology for diagnosis, monitoring response, identifying cancer causing mutations and detecting recurrences. Circulating tumor RB1 DNA (ctDNA) is found in the blood (plasma) of retinoblastoma patients at diagnosis before instituting treatment (naïve). We investigated ctDNA in naïve unilateral patients before enucleation and during enucleation (6 patients/ 8 mutations with specimens collected 5-40 minutes from severing the optic nerve) In our cohort, following transection the optic nerve, ctDNA RB1 VAF was measurably lower than pre-enucleation levels within five minutes, 50% less within 15 minutes and 90% less by 40 minutes.

Publication types

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

MeSH terms

  • Biomarkers, Tumor / genetics
  • Cell-Free Nucleic Acids*
  • Circulating Tumor DNA* / genetics
  • Eye Enucleation
  • Humans
  • Mutation
  • Pilot Projects
  • Retinal Neoplasms* / genetics
  • Retinal Neoplasms* / surgery
  • Retinoblastoma Binding Proteins / genetics
  • Retinoblastoma* / genetics
  • Retinoblastoma* / surgery
  • Ubiquitin-Protein Ligases / genetics

Substances

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