Cell-Free DNA Sequencing of Intraocular Fluid as Liquid Biopsy in the Diagnosis of Vitreoretinal Lymphoma.
cell-free DNA sequencing
diagnosis
diagnostic vitrectomy
liquid biopsy
vitreoretinal lymphoma
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2022
2022
Historique:
received:
30
04
2022
accepted:
13
06
2022
entrez:
5
8
2022
pubmed:
6
8
2022
medline:
6
8
2022
Statut:
epublish
Résumé
To seek novel diagnostic approaches, we improved the workflow of cell-free DNA (cfDNA) sequencing and evaluated its feasibility in vitreoretinal lymphoma (VRL) specimens; the profile of mutations was preliminarily analyzed for potential diagnostic value. The study was a diagnostic trial. 23 eyes of 23 patients with VRL and 25 eyes of 25 patients with inflammatory eye diseases were enrolled. Approximate 500μl undiluted vitreous humor and 10ml diluted vitreous fluid was obtained through diagnostic vitrectomy and sent for cytopathological examinations. 500μl of the diluted vitreous fluid was spared for cfDNA sequencing. For cfDNA sequencing, DNA fragmentation procedure was added to the workflow to improve the extraction efficiency; mutations detected were analyzed for potential diagnostic model. The sensitivity and specificity of the cytopathology and cfDNA sequencing were compared. The clinical manifestations were preliminarily analyzed for potential correlations with the genotypes. CfDNA sequencing was accomplished in 23 eyes with VRL and 20 eyes with inflammatory eye diseases. VRL-related mutated genes included The improved workflow of CfDNA sequencing is of sound feasibility in a limited amount of vitreous humor. The logistic model based on the mutations could help to provide reliable clues for the diagnosis of VRL.
Identifiants
pubmed: 35928872
doi: 10.3389/fonc.2022.932674
pmc: PMC9343589
doi:
Types de publication
Journal Article
Langues
eng
Pagination
932674Informations de copyright
Copyright © 2022 Gu, Jiang, Liu, Ping, Li, Chen, Wang, Huang, Xu and Chang.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Biochem Biophys Rep. 2018 Jun 30;15:45-51
pubmed: 29984326
Blood. 2012 Feb 23;119(8):1882-7
pubmed: 22238326
N Engl J Med. 2018 Apr 12;378(15):1396-1407
pubmed: 29641966
Br J Haematol. 2016 Jun;173(5):680-92
pubmed: 27133587
Eur J Haematol. 2019 Feb;102(2):191-196
pubmed: 30390359
Clin Cancer Res. 2019 Oct 15;25(20):6107-6118
pubmed: 31363003
Am J Ophthalmol. 2014 Mar;157(3):526-31
pubmed: 24211361
Oncotarget. 2016 Jul 26;7(30):48832-48841
pubmed: 27223063
Cell. 2017 Oct 5;171(2):481-494.e15
pubmed: 28985567
Retina. 2019 Apr;39(4):679-684
pubmed: 30204732
Jpn J Ophthalmol. 2012 Jul;56(4):383-9
pubmed: 22661396
Ocul Immunol Inflamm. 2021 Apr 3;29(3):448-455
pubmed: 31603365
Retina. 2021 Dec 1;41(12):2596-2604
pubmed: 34173362
Oncologist. 2011;16(11):1589-99
pubmed: 22045784
JAMA Ophthalmol. 2018 Oct 1;136(10):1098-1104
pubmed: 30027272
J Cell Physiol. 2019 May;234(5):5379-5389
pubmed: 30350856
Blood Adv. 2022 Mar 8;6(5):1598-1607
pubmed: 34448823
Cancer Sci. 2019 Apr;110(4):1148-1155
pubmed: 30742729
Oncotarget. 2017 Jan 31;8(5):7989-7998
pubmed: 28002793
Blood. 2016 May 19;127(20):2375-90
pubmed: 26980727
Cancer Sci. 2020 Apr;111(4):1417-1421
pubmed: 32056332
Ophthalmology. 2016 Jul;123(7):1626-8
pubmed: 26948307
Ophthalmology. 2020 Jul;127(7):956-962
pubmed: 32197914
Ophthalmology. 2021 Jul;128(7):1079-1090
pubmed: 33221324
Haematologica. 2020 Jun 05;105(9):e458-460
pubmed: 33054063