Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.

SCNA aqueous humor ctDNA liquid biopsy precision oncology retinoblastoma

Journal

Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829

Informations de publication

Date de publication:
13 Mar 2021
Historique:
received: 15 01 2021
revised: 05 03 2021
accepted: 11 03 2021
entrez: 3 4 2021
pubmed: 4 4 2021
medline: 4 4 2021
Statut: epublish

Résumé

Because direct tumor biopsy is prohibited for retinoblastoma (RB), eye-specific molecular biomarkers are not used in clinical practice for RB. Recently, we demonstrated that the aqueous humor (AH) is a rich liquid biopsy source of cell-free tumor DNA. Herein, we detail clinically-relevant molecular biomarkers from the first year of prospective validation data. Seven eyes from 6 RB patients who had AH sampled at diagnosis and throughout therapy with ≥12 months of follow-up were included. Cell-free DNA (cfDNA) from each sample was isolated and sequenced to assess genome-wide somatic copy number alterations (SCNAs), followed by targeted resequencing for pathogenic variants using a

Identifiants

DOI: 10.3390/cancers13061282 PMID: 33805776 PMC: PMC8001323
pubmed: 33805776
pii: cancers13061282
doi: 10.3390/cancers13061282
pmc: PMC8001323
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Wright Foundation
ID : N/A
Organisme : National Cancer Institute of the National Institute of Health Award
ID : K08CA232344
Organisme : NIH HHS
ID : P30EY029220
Pays : United States
Organisme : NCI NIH HHS
ID : P30CA014089
Pays : United States
Organisme : Hyundai Hope On Wheels
ID : RGA012351
Organisme : American Cancer Society
ID : IRG-16-181-57
Organisme : Knights Templar Eye Foundation
ID : N/A
Organisme : Institute for Families, Inc., Children's Hospital Los Angeles
ID : N/A
Organisme : Larry and Celia Moh Foundation
ID : N/A
Organisme : Nautica Foundation
ID : N/A
Organisme : Research to Prevent Blindness, an unrestricted departmental grant
ID : N/A
Organisme : USC Dornsife College of Letters, Arts and Sciences
ID : N/A
Organisme : Vicky Joseph Research Fund
ID : N/A
Organisme : Carol Vassiliadis Research Fund
ID : N/A

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Auteurs

Liya Xu (L)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA.
ORCID: 0000-0002-5501-2039

Mary E Kim (ME)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.
ORCID: 0000-0002-7986-6119

Ashley Polski (A)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.
ORCID: 0000-0001-6301-6892

Rishvanth K Prabakar (RK)

Department of Molecular and Computational Biology, University of Southern California, Los Angeles, CA 90007, USA.

Lishuang Shen (L)

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
ORCID: 0000-0002-0436-0199

Chen-Ching Peng (CC)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA.

Mark W Reid (MW)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
ORCID: 0000-0002-1942-225X

Patricia Chévez-Barrios (P)

Ophthalmic Pathology, Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX 77030, USA.

Jonathan W Kim (JW)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.

Rachana Shah (R)

Cancer and Blood Disease Institute at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

Rima Jubran (R)

Cancer and Blood Disease Institute at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

Peter Kuhn (P)

Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA.
Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA.
Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA.

David Cobrinik (D)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.
Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

Jaclyn A Biegel (JA)

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA.

Xiaowu Gai (X)

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA.

James Hicks (J)

Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA.
Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Jesse L Berry (JL)

The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.
Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
ORCID: 0000-0002-8907-9100

Classifications MeSH