Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival.
Aqueous Humor
/ chemistry
Biomarkers, Tumor
/ genetics
Cell-Free Nucleic Acids
/ genetics
Child, Preschool
Chromosomes, Human, Pair 6
/ genetics
DNA Copy Number Variations
Eye Enucleation
Female
Humans
Infant
Infant, Newborn
Male
Neoplasm Staging
Prognosis
Prospective Studies
Retinal Neoplasms
/ genetics
Retinoblastoma
/ genetics
Whole Genome Sequencing
Journal
Molecular cancer research : MCR
ISSN: 1557-3125
Titre abrégé: Mol Cancer Res
Pays: United States
ID NLM: 101150042
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
09
01
2020
revised:
10
04
2020
accepted:
18
05
2020
pubmed:
22
5
2020
medline:
3
7
2021
entrez:
22
5
2020
Statut:
ppublish
Résumé
Aqueous humor contains tumor-derived cell-free DNA (cfDNA) and can serve as a liquid biopsy for retinoblastoma. We previously associated somatic copy-number alteration (SCNA) 6p gain with a 10-fold increased risk of enucleation. Here we provide a 2-year update to further explore 6p gain as a prognostic biomarker for ocular survival. Patients diagnosed with retinoblastoma from December 2014 to July 2019 from whom aqueous humor was sampled were included. cfDNA was extracted and shallow whole-genome sequencing performed to identify highly recurrent retinoblastoma SCNAs (gain of 1q, 2p, 6p, loss of 13q, 16q). 116 aqueous humor samples from 50 eyes of 46 patients were included: 27 eyes were salvaged, 23 were enucleated. Highly recurrent retinoblastoma SCNAs were found in 66% eyes. 6p gain was the most prevalent SCNA (50% eyes). It was particularly more prevalent in enucleated eyes (73.9%) than in salvaged eyes (29.6%;
Identifiants
pubmed: 32434859
pii: 1541-7786.MCR-19-1262
doi: 10.1158/1541-7786.MCR-19-1262
pmc: PMC7415535
mid: NIHMS1597947
doi:
Substances chimiques
Biomarkers, Tumor
0
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
Sous-ensembles de citation
IM
Pagination
1166-1175Subventions
Organisme : NCI NIH HHS
ID : K08 CA232344
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA014089
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY029220
Pays : United States
Informations de copyright
©2020 American Association for Cancer Research.
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