Seq-ing the SINEs of central nervous system tumors in cerebrospinal fluid.
Journal
Cell reports. Medicine
ISSN: 2666-3791
Titre abrégé: Cell Rep Med
Pays: United States
ID NLM: 101766894
Informations de publication
Date de publication:
15 08 2023
15 08 2023
Historique:
received:
27
03
2023
revised:
30
05
2023
accepted:
13
07
2023
medline:
18
8
2023
pubmed:
9
8
2023
entrez:
8
8
2023
Statut:
ppublish
Résumé
It is often challenging to distinguish cancerous from non-cancerous lesions in the brain using conventional diagnostic approaches. We introduce an analytic technique called Real-CSF (repetitive element aneuploidy sequencing in CSF) to detect cancers of the central nervous system from evaluation of DNA in the cerebrospinal fluid (CSF). Short interspersed nuclear elements (SINEs) are PCR amplified with a single primer pair, and the PCR products are evaluated by next-generation sequencing. Real-CSF assesses genome-wide copy-number alterations as well as focal amplifications of selected oncogenes. Real-CSF was applied to 280 CSF samples and correctly identified 67% of 184 cancerous and 96% of 96 non-cancerous brain lesions. CSF analysis was considerably more sensitive than standard-of-care cytology and plasma cell-free DNA analysis in the same patients. Real-CSF therefore has the capacity to be used in combination with other clinical, radiologic, and laboratory-based data to inform the diagnosis and management of patients with suspected cancers of the brain.
Identifiants
pubmed: 37552989
pii: S2666-3791(23)00301-4
doi: 10.1016/j.xcrm.2023.101148
pmc: PMC10439243
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
101148Subventions
Organisme : NINDS NIH HHS
ID : R01 NS119231
Pays : United States
Organisme : NCATS NIH HHS
ID : R21 TR004059
Pays : United States
Organisme : NCI NIH HHS
ID : R37 CA230400
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA230691
Pays : United States
Informations de copyright
Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests B.V., K.W.K., and N.P. are founders of Thrive Earlier Detection, an Exact Sciences Company. K.W.K., N.P., and C.D. are consultants to Thrive Earlier Detection. B.V., K.W.K., N.P., and C.D. hold equity in Exact Sciences. B.V., K.W.K., and N.P. are founders of and own equity in ManaT Bio. K.W.K. and N.P. are consultants to and own equity in Haystack Oncology, Neophore, and Personal Genome Diagnostics. K.W.K., B.V., and N.P. hold equity in and are consultants to CAGE Pharma. B.V. is a consultant to and holds equity in Catalio Capital Management and may be a consultant to and hold equity in Haystack Oncology. B.V. owns equity in CAGE, Neophore, and Personal Genome Diagnostics. C. Bettegowda is a consultant to Depuy-Synthes, Bionaut Labs, Haystack Oncology, and Galectin Therapeutics. C. Bettegowda is a co-founder of OrisDx. C. Bettegowda and C.D. are co-founders of Belay Diagnostics. The companies named above, as well as other companies, have licensed previously described technologies related to the work described in this paper from Johns Hopkins University. B.V., K.W.K., N.P., C. Bettegowda, and C.D. are inventors on some of these technologies. Licenses to these technologies are or will be associated with equity or royalty payments to the inventors as well as to Johns Hopkins University. Patent applications on the work described in this paper may be filed by Johns Hopkins University. The terms of all these arrangements are being managed by Johns Hopkins University in accordance with its conflict of interest policies. M.H. is on the data safety monitoring board for Parexel and Advarra and has received an honorarium from Pfizer. K.S. received an honorarium from Springworks Therapeutics and receives research funding from Springworks Therapeutics. J.N. receives research funding from Merck, AstraZeneca, BMS, Amgen, Novartis, and Roche/Genetech and is a consulting/advisory board for Merck, AstraZeneca, BMS, Amgen, Novartis, Roche/Genetech, Takeda, Pfizer, Daiichi Sankyo, and NGM Biosciences. C.J. is a co-founder with equity interest in Egret Therapeutics and receives research support from Biohaven.
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