| Literature DB >> 26195750 |
Yuxuan Wang1, Simeon Springer1, Ming Zhang1, K Wyatt McMahon1, Isaac Kinde1, Lisa Dobbyn1, Janine Ptak1, Henry Brem2, Kaisorn Chaichana2, Gary L Gallia2, Ziya L Gokaslan2, Mari L Groves2, George I Jallo2, Michael Lim2, Alessandro Olivi2, Alfredo Quinones-Hinojosa2, Daniele Rigamonti2, Greg J Riggins2, Daniel M Sciubba2, Jon D Weingart2, Jean-Paul Wolinsky2, Xiaobu Ye2, Sueli Mieko Oba-Shinjo3, Suely K N Marie3, Matthias Holdhoff4, Nishant Agrawal5, Luis A Diaz1, Nickolas Papadopoulos1, Kenneth W Kinzler1, Bert Vogelstein6, Chetan Bettegowda7.
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.Entities:
Keywords: CNS tumors; CSF-tDNA; biomarker
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Year: 2015 PMID： 26195750 PMCID： PMC4534284 DOI： 10.1073/pnas.1511694112
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205