Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study
Year: 2023
Type: article
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.
Source: PLoS ONE
Authors: 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
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,805
Award: Cancer Center Support Grant
OpenAlex ID: W4319057983