Cell-Free DNA Tumor Fraction in the Aqueous Humor Is Associated With Therapeutic Response in Retinoblastoma Patients.
aqueous humor
liquid biopsy
retinoblastoma
somatic copy number alteration
tumor fraction
Journal
Translational vision science & technology
ISSN: 2164-2591
Titre abrégé: Transl Vis Sci Technol
Pays: United States
ID NLM: 101595919
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
16
03
2020
accepted:
22
08
2020
entrez:
16
10
2020
pubmed:
17
10
2020
medline:
17
10
2020
Statut:
epublish
Résumé
The aqueous humor (AH) liquid biopsy enables in vivo evaluation of tumor-derived cell-free DNA (cfDNA) from retinoblastoma (RB) eyes. Herein, we test our hypothesis that longitudinal dynamics of AH cfDNA-including tumor fraction (TFx) and somatic copy number alteration (SCNA) amplitude-correspond to therapeutic response. Eyes with ≥3 AH extractions during intravitreal chemotherapy (IVM) or at secondary enucleation between 2015 to 2019 were included. AH cfDNA was sequenced to assess RB SCNA amplitude; ichorCNA software was used to estimate TFx. Eyes without SCNAs or with TFx < 0.10 across all samples were excluded. Therapeutic responses for each eye were determined from clinical records. Statistical analyses included Mann-Whitney U and Pearson correlation tests. Twenty eyes of 20 patients underwent ≥3 AH extractions; 6 eyes lacked SCNAs or had TFx < 0.10 throughout sampling and were excluded. Clinical progression was associated with significantly higher SCNA amplitudes and TFx values than regression ( Longitudinal changes in AH-derived cfDNA TFx and SCNA amplitude are concordant with clinical responses of intraocular RB during active therapy. Longitudinal evaluation of AH cfDNA may provide an objective, quantitative way to monitor therapeutic response and disease burden in RB patients.
Identifiants
pubmed: 33062393
doi: 10.1167/tvst.9.10.30
pii: TVST-20-2426
pmc: PMC7533735
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
30Subventions
Organisme : NCI NIH HHS
ID : K08 CA232344
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA014089
Pays : United States
Informations de copyright
Copyright 2020 The Authors.
Déclaration de conflit d'intérêts
Disclosure: A. Polski, None; L. Xu, Aqueous Humor Cell Free DNA for Diagnostic and Prognostic Evaluation of Ophthalmic Disease (P); R.K. Prabakar, None; J.W. Kim, None; R. Shah, None; R. Jubran, None; P. Kuhn, None; D. Cobrinik, None; J. Hicks, Aqueous Humor Cell Free DNA for Diagnostic and Prognostic Evaluation of Ophthalmic Disease (P); J.L. Berry, Aqueous Humor Cell Free DNA for Diagnostic and Prognostic Evaluation of Ophthalmic Disease (P)
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