Detectability of plasma-derived circulating tumor DNA panel in patients undergoing primary treatment for uveal melanoma Journal Article


Authors: Francis, J. H.; Barker, C. A.; Brannon, A. R.; Canestraro, J.; Robbins, M.; Swartzwelder, C. E.; Levine, S.; Law, C.; Berger, M. F.; Shoushtari, A.; Abramson, D. H.
Article Title: Detectability of plasma-derived circulating tumor DNA panel in patients undergoing primary treatment for uveal melanoma
Abstract: PURPOSE. To investigate the presence of plasma circulating tumor DNA (ctDNA) in patients with uveal melanoma during and after primary tumor treatment. METHODS. Detectability and variant allele frequency of ctDNA were assessed using a 129-oncogene panel using next-generation deep sequencing and hybridization capture in 69 patients with uveal melanoma undergoing primary treatment with enucleation (n = 8, during surgery) or plaque brachytherapy (n = 61; postoperative day 0, 1, 2, or 3). Followup assessments were performed in 39 patients over a median of 21 months (range, 3.2–31.9 months) of follow-up. Correlations between genomic data and disease parameters were performed. RESULTS. Overall, ctDNA was detectable in 20 of 69 patients with uveal melanoma (28.9%) during the perioperative period. On the day of enucleation, ctDNA was detected in two of eight patients (25%). In patients undergoing brachytherapy, ctDNA was significantly more detectable on postoperative days 2 or 3 compared with postoperative day 0 or 1 (32.4% vs 0.0%; P = 0.0015). Patients with follow-up ctDNA that became detectable or had an increased variant allele frequency were significantly more likely to develop metastasis compared with patients with follow-up ctDNA that became undetectable or decreased variant allele frequency (P = 0.04). In patients with detectable vs. undetectable ctDNA, there was no significant difference in tumor size, stage or location. CONCLUSIONS. ctDNA is significantly more detectable at 48 to 72 hours after plaque brachytherapy compared with less than 48 hours. ctDNA can be detected during enucleation. Relative increases in ctDNA levels may herald the development of clinically apparent metastases. Copyright 2022 The Authors.
Keywords: genetics; melanoma; metastasis; tumor marker; biomarker; uvea tumor; uveal neoplasms; uveal melanoma; high throughput sequencing; high-throughput nucleotide sequencing; humans; human; circulating tumor dna; liquid biopsy; biomarkers, tumor
Journal Title: Investigative Ophthalmology & Visual Science (IOVS)
Volume: 63
Issue: 13
ISSN: 0146-0404
Publisher: Association for Research in Vision and Ophthalmology  
Date Published: 2022-12-01
Start Page: 17
Language: English
DOI: 10.1167/iovs.63.13.17
PUBMED: 36525262
PROVIDER: scopus
PMCID: PMC9766787
DOI/URL:
Notes: Article -- Export Date: 3 January 2023 -- Source: Scopus
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MSK Authors
  1. Jasmine Helen Francis
    228 Francis
  2. David H Abramson
    369 Abramson
  3. Christopher Barker
    201 Barker
  4. Michael Forman Berger
    707 Berger
  5. Angela Rose Brannon
    75 Brannon
  6. Sara Nicole Levine
    1 Levine
  7. Crystal Law
    1 Law