Current role and future potential of CSF ctDNA for the diagnosis and clinical management of pediatric central nervous system tumors Review

  

Authors:	Miller, A. M.; Karajannis, M. A.
Review Title:	Current role and future potential of CSF ctDNA for the diagnosis and clinical management of pediatric central nervous system tumors
Abstract:	Most pediatric central nervous system (CNS) tumors are located in eloquent anatomic areas, making surgical resection and, in some cases, even biopsy risky or impossible. This diagnostic predicament coupled with the move toward molecular classification for diagnosis has exposed an urgent need to develop a minimally invasive means to obtain diagnostic information. In non-CNS solid tumors, the detection of circulating tumor DNA (ctDNA) in plasma and other bodily fluids has been incorporated into routine practice and clinical trial design for selection of molecular targeted therapy and longitudinal monitoring. For primary CNS tumors, however, detection of ctDNA in plasma has been challenging. This is likely related at least in part to anatomic factors such as the blood-brain barrier. Due to the proximity of primary CNS tumors to the cerebrospinal fluid (CSF) space, our group and others have turned to CSF as a rich alternative source of ctDNA. Although multiple studies at this time have demonstrated the feasibility of CSF ctDNA detection across multiple types of pediatric CNS tumors, the optimal role and utility of CSF ctDNA in the clinical setting has not been established. This review discusses the work-to-date on CSF ctDNA liquid biopsy in pediatric CNS tumors and the associated technical challenges, and reviews the promising opportunities that lie ahead for integration of CSF ctDNA liquid biopsy into clinical care and clinical trial design. © 2022 Harborside Press. All rights reserved.
Keywords:	child; genetics; mutation; tumor marker; central nervous system tumor; central nervous system neoplasms; humans; human; circulating tumor dna; liquid biopsy; biomarkers, tumor
Journal Title:	Journal of the National Comprehensive Cancer Network
Volume:	20
Issue:	12
ISSN:	1540-1405
Publisher:	Harborside Press
Date Published:	2022-12-01
Start Page:	1363
End Page:	1369
Language:	English
DOI:	10.6004/jnccn.2022.7093
PUBMED:	36509077
PROVIDER:	scopus
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85143992725&doi=10.6004%2fjnccn.2022.7093&partnerID=40&md5=61e07fb28c0347b771d63156ffe0d9d9
Notes:	Review -- Export Date: 3 January 2023 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/201791