Detection of tumor-derived DNA in cerebrospinal fluid of patients with primary tumors of the brain and spinal cord.

Abstract:

:Cell-free DNA shed by cancer cells has been shown to be a rich source of putative tumor-specific biomarkers. Because cell-free DNA from brain and spinal cord tumors cannot usually be detected in the blood, we studied whether the cerebrospinal fluid (CSF) that bathes the CNS is enriched for tumor DNA, here termed CSF-tDNA. We analyzed 35 primary CNS malignancies and found at least one mutation in each tumor using targeted or genome-wide sequencing. Using these patient-specific mutations as biomarkers, we identified detectable levels of CSF-tDNA in 74% [95% confidence interval (95% CI) = 57-88%] of cases. All medulloblastomas, ependymomas, and high-grade gliomas that abutted a CSF space were detectable (100% of 21 cases; 95% CI = 88-100%), whereas no CSF-tDNA was detected in patients whose tumors were not directly adjacent to a CSF reservoir (P < 0.0001, Fisher's exact test). These results suggest that CSF-tDNA could be useful for the management of patients with primary tumors of the brain or spinal cord.

authors

Wang Y,Springer S,Zhang M,McMahon KW,Kinde I,Dobbyn L,Ptak J,Brem H,Chaichana K,Gallia GL,Gokaslan ZL,Groves ML,Jallo GI,Lim M,Olivi A,Quinones-Hinojosa A,Rigamonti D,Riggins GJ,Sciubba DM,Weingart JD,Wolinsky JP

doi

10.1073/pnas.1511694112

subject

Has Abstract

pub_date

2015-08-04 00:00:00

pages

9704-9

issue

31

eissn

0027-8424

issn

1091-6490

pii

1511694112

journal_volume

112

pub_type

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