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.
journal_name
Proc Natl Acad Sci U S Aauthors
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 JPdoi
10.1073/pnas.1511694112subject
Has Abstractpub_date
2015-08-04 00:00:00pages
9704-9issue
31eissn
0027-8424issn
1091-6490pii
1511694112journal_volume
112pub_type
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