Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study Journal Article
| Authors: | Abramson, D. H.; Mandelker, D. L.; Brannon, A. R.; Dunkel, I. J.; Benayed, R.; Berger, M. F.; Arcila, M. E.; Ladanyi, M.; Friedman, D. N.; Jayakumaran, G.; Diosdado, M. S.; Robbins, M. A.; Haggag-Lindgren, D.; Shukla, N.; Walsh, M. F.; Kothari, P.; Tsui, D. W. Y.; Francis, J. H. |
| Article Title: | Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study |
| 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. © 2023 Abramson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | genetics; mutation; ubiquitin protein ligase; retinoblastoma; retina tumor; retinal neoplasms; tumor marker; pilot study; pilot projects; eye enucleation; ubiquitin-protein ligases; retinoblastoma binding protein; humans; human; circulating tumor dna; biomarkers, tumor; cell-free nucleic acids; cell free nucleic acid; rb1 protein, human; retinoblastoma binding proteins |
| Journal Title: | PLoS ONE |
| Volume: | 18 |
| Issue: | 2 |
| ISSN: | 1932-6203 |
| Publisher: | Public Library of Science |
| Date Published: | 2023-02-03 |
| Start Page: | e0271505 |
| Language: | English |
| DOI: | 10.1371/journal.pone.0271505 |
| PUBMED: | 36735656 |
| PROVIDER: | scopus |
| PMCID: | PMC9897525 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record and PDF. Corresponding author is MSK author David Abramson -- Export Date: 1 March 2023 -- Source: Scopus |
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