Circulating Tumor DNA in Pediatric Cancer

The measurement of circulating tumor DNA (ctDNA) has gained increasing prominence as a minimally invasive tool for the detection of cancer-specific markers in plasma. In adult cancers, ctDNA detection has shown value for disease-monitoring applications including tumor mutation profiling, risk strati...

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Main Authors: Louise Doculara, Toby N. Trahair, Narges Bayat, Richard B. Lock
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Molecular Biosciences
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2022.885597/full
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author Louise Doculara
Louise Doculara
Louise Doculara
Toby N. Trahair
Toby N. Trahair
Toby N. Trahair
Narges Bayat
Narges Bayat
Narges Bayat
Richard B. Lock
Richard B. Lock
Richard B. Lock
author_facet Louise Doculara
Louise Doculara
Louise Doculara
Toby N. Trahair
Toby N. Trahair
Toby N. Trahair
Narges Bayat
Narges Bayat
Narges Bayat
Richard B. Lock
Richard B. Lock
Richard B. Lock
author_sort Louise Doculara
collection DOAJ
description The measurement of circulating tumor DNA (ctDNA) has gained increasing prominence as a minimally invasive tool for the detection of cancer-specific markers in plasma. In adult cancers, ctDNA detection has shown value for disease-monitoring applications including tumor mutation profiling, risk stratification, relapse prediction, and treatment response evaluation. To date, there are ctDNA tests used as companion diagnostics for adult cancers and it is not understood why the same cannot be said about childhood cancer, despite the marked differences between adult and pediatric oncology. In this review, we discuss the current understanding of ctDNA as a disease monitoring biomarker in the context of pediatric malignancies, including the challenges associated with ctDNA detection in liquid biopsies. The data and conclusions from pediatric cancer studies of ctDNA are summarized, highlighting treatment response, disease monitoring and the detection of subclonal disease as applications of ctDNA. While the data from retrospective studies highlight the potential of ctDNA, large clinical trials are required for ctDNA analysis for routine clinical use in pediatric cancers. We outline the requirements for the standardization of ctDNA detection in pediatric cancers, including sample handling and reproducibility of results. With better understanding of the advantages and limitations of ctDNA and improved detection methods, ctDNA analysis may become the standard of care for patient monitoring in childhood cancers.
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spelling doaj.art-cdfc88fdf77046038db108d2f6b96c6f2022-12-22T00:28:44ZengFrontiers Media S.A.Frontiers in Molecular Biosciences2296-889X2022-05-01910.3389/fmolb.2022.885597885597Circulating Tumor DNA in Pediatric CancerLouise Doculara0Louise Doculara1Louise Doculara2Toby N. Trahair3Toby N. Trahair4Toby N. Trahair5Narges Bayat6Narges Bayat7Narges Bayat8Richard B. Lock9Richard B. Lock10Richard B. Lock11Children’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Sydney, NSW, AustraliaSchool of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, AustraliaUniversity of New South Wales Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, AustraliaChildren’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Sydney, NSW, AustraliaSchool of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, AustraliaKids Cancer Centre, Sydney Children’s Hospital, Randwick, NSW, AustraliaChildren’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Sydney, NSW, AustraliaSchool of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, AustraliaUniversity of New South Wales Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, AustraliaChildren’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Sydney, NSW, AustraliaSchool of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, AustraliaUniversity of New South Wales Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, AustraliaThe measurement of circulating tumor DNA (ctDNA) has gained increasing prominence as a minimally invasive tool for the detection of cancer-specific markers in plasma. In adult cancers, ctDNA detection has shown value for disease-monitoring applications including tumor mutation profiling, risk stratification, relapse prediction, and treatment response evaluation. To date, there are ctDNA tests used as companion diagnostics for adult cancers and it is not understood why the same cannot be said about childhood cancer, despite the marked differences between adult and pediatric oncology. In this review, we discuss the current understanding of ctDNA as a disease monitoring biomarker in the context of pediatric malignancies, including the challenges associated with ctDNA detection in liquid biopsies. The data and conclusions from pediatric cancer studies of ctDNA are summarized, highlighting treatment response, disease monitoring and the detection of subclonal disease as applications of ctDNA. While the data from retrospective studies highlight the potential of ctDNA, large clinical trials are required for ctDNA analysis for routine clinical use in pediatric cancers. We outline the requirements for the standardization of ctDNA detection in pediatric cancers, including sample handling and reproducibility of results. With better understanding of the advantages and limitations of ctDNA and improved detection methods, ctDNA analysis may become the standard of care for patient monitoring in childhood cancers.https://www.frontiersin.org/articles/10.3389/fmolb.2022.885597/fullliquid biopsycirculating tumor DNAchildhood cancerNGSddPCRminimal residual disease
spellingShingle Louise Doculara
Louise Doculara
Louise Doculara
Toby N. Trahair
Toby N. Trahair
Toby N. Trahair
Narges Bayat
Narges Bayat
Narges Bayat
Richard B. Lock
Richard B. Lock
Richard B. Lock
Circulating Tumor DNA in Pediatric Cancer
Frontiers in Molecular Biosciences
liquid biopsy
circulating tumor DNA
childhood cancer
NGS
ddPCR
minimal residual disease
title Circulating Tumor DNA in Pediatric Cancer
title_full Circulating Tumor DNA in Pediatric Cancer
title_fullStr Circulating Tumor DNA in Pediatric Cancer
title_full_unstemmed Circulating Tumor DNA in Pediatric Cancer
title_short Circulating Tumor DNA in Pediatric Cancer
title_sort circulating tumor dna in pediatric cancer
topic liquid biopsy
circulating tumor DNA
childhood cancer
NGS
ddPCR
minimal residual disease
url https://www.frontiersin.org/articles/10.3389/fmolb.2022.885597/full
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