PLoS ONE (Jan 2023)

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

  • David H. Abramson,
  • Diana L. Mandelker,
  • A. Rose Brannon,
  • Ira J. Dunkel,
  • Ryma Benayed,
  • Michael F. Berger,
  • Maria E. Arcila,
  • Marc Ladanyi,
  • Danielle Novetsky Friedman,
  • Gowtham Jayakumaran,
  • Monica S. Diosdado,
  • Melissa A. Robbins,
  • Dianna Haggag-Lindgren,
  • Neerav Shukla,
  • Michael F. Walsh,
  • Prachi Kothari,
  • Dana W. Y. Tsui,
  • Jasmine H. Francis

Journal volume & issue
Vol. 18, no. 2

Abstract

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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.