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

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

David H Abramson  1   2 , Diana L Mandelker  3 , A Rose Brannon  3 , Ira J Dunkel  4   5 , Ryma Benayed  3 , Michael F Berger  3 , Maria E Arcila  3 , Marc Ladanyi  3 , Danielle Novetsky Friedman  4 , Gowtham Jayakumaran  3 , Monica S Diosdado  3 , Melissa A Robbins  1 , Dianna Haggag-Lindgren  1 , Neerav Shukla  4 , Michael F Walsh  4   6 , Prachi Kothari  4 , Dana W Y Tsui  3   7 , Jasmine H Francis  1   2
Affiliations

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

David H Abramson et al. PLoS One. .

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.

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Conflict of interest statement

I have read the journal’s policy and the authors of this manuscript have the following completing interests: I.J.D. is a consultant or advisory board member for Apexigen, Astra-Zeneca, Bristol-Myers, Squibb/Celgene, Day One, Fennec, QED, and Roche. M.E.A declares the following competing interests: AstraZeneca, Bristol-Myers Squibb, Invivoscribe, Janssen Global Services, Merck, Roche (Consultant); Biocartis, Invivoscribe (Speaker/Speaker’s Bureau). D.W.Y.T. received honoraria from Nanodigmbio, Cowen and BoA Merrill Lynch; Research funding from ThermoFisher Scientific, EPIC Sciences, Prostate Cancer Foundation; Travel, Accommodations, Expenses from Nanodigmbio. D.W.Y.T is a co-inventor on a provisional patent application for systems and methods for detecting cancer via cfDNA screening (PCT/US2019/027487), and an inventor on a provisional patent application for systems and methods for distinguishing pathological mutations from clonal hematopoietic mutations in plasma cell-free DNA by fragment size analysis. D.W.Y.T is currently an employee of PetDx. Inc. M.F.B. declares research funding from Grail; personal fees from Roche and PetDX; and a provisional patent for systems and methods for detecting cancer via cfDNA screening (PCT/US2019/027487). D.H.A., D.L.M., A.R.B., R.B., J.H.F., D.N.F., M.F.W., G.J., N.S., P.K., M.L., M.S.D., M.A.R., D.H.L. declare no conflict of interest. This does not alter out adherence to PLOS ONE policies on sharing data and materials. There are no patents, products in development or marketed products associated with this research to declare.

Figures

Fig 1
Fig 1. Fundus photographs and clustered bar graphs for four eyes.
Fig 2
Fig 2. VAF (%) vs. time (minutes).
See this image and copyright information in PMC

References

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