Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma.
SCNA
aqueous humor
cell-free DNA
circulating tumor DNA
liquid biopsy
precision oncology
prognostic biomarker
retinoblastoma
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
03 Jul 2021
03 Jul 2021
Historique:
received:
31
05
2021
revised:
28
06
2021
accepted:
30
06
2021
entrez:
20
7
2021
pubmed:
21
7
2021
medline:
21
7
2021
Statut:
epublish
Résumé
Aqueous humor (AH) liquid biopsy has been established as a surrogate tumor biopsy for retinoblastoma (RB). Previous AH studies have focused on highly recurrent RB somatic copy number alterations (SCNAs) including gain of 1q, 2p, 6p, and loss of 13q and 16q. In this retrospective study, we provide a comprehensive, whole-genome analysis of RB SCNAs and evaluate associated clinical features for 68 eyes of 64 RB patients from whom AH was obtained between December 2014 and October 2020. Shallow whole-genome sequencing of AH cell-free DNA was performed to assess for SCNAs. The prevalence of specific non-highly recurrent SCNAs, such as 20q gain and 8p loss, differed between primarily and secondarily enucleated eyes. Increases in chromosomal instability predict more advanced seeding morphology (
Identifiants
pubmed: 34283049
pii: cancers13133340
doi: 10.3390/cancers13133340
pmc: PMC8268955
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NIH HHS
ID : K08CA232344
Pays : United States
Organisme : Larry and Celia Moh Foundation
ID : N/A
Organisme : NEI NIH HHS
ID : P30 EY029220
Pays : United States
Organisme : USC Dornsife College of Letters, Arts and Sciences
ID : N/A
Organisme : Nautica Foundation
ID : N/A
Organisme : Childhood Eye Cancer Trust
ID : N/A
Organisme : Knights Templar Eye Foundation
ID : N/A
Organisme : Vicky Joseph Research Fund
ID : N/A
Organisme : Research to Prevent Blindness
ID : N/A
Organisme : Hyundai Hope On Wheels
ID : RGA012351
Organisme : Wright Foundation
ID : N/A
Organisme : Institute for Families, Inc., Children's Hospital Los Angeles
ID : N/A
Organisme : NIH HHS
ID : P30EY029220
Pays : United States
Organisme : NCI NIH HHS
ID : P30CA014089
Pays : United States
Organisme : Carol Vassiliadis Research Fund
ID : N/A
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