Evaluating cancer of the central nervous system through next-generation sequencing of cerebrospinal fluid Journal Article


Authors: Pentsova, E. I.; Shah, R. H.; Tang, J.; Boire, A.; You, D.; Briggs, S.; Omuro, A.; Lin, X.; Fleisher, M.; Grommes, C.; Panageas, K. S.; Meng, F.; Selcuklu, S. D.; Ogilvie, S.; Distefano, N.; Shagabayeva, L.; Rosenblum, M.; DeAngelis, L. M.; Viale, A.; Mellinghoff, I. K.; Berger, M. F.
Article Title: Evaluating cancer of the central nervous system through next-generation sequencing of cerebrospinal fluid
Abstract: Purpose: Cancer spread to the central nervous system (CNS) often is diagnosed late and is unresponsive to therapy. Mechanisms of tumor dissemination and evolution within the CNS are largely unknown because of limited access to tumor tissue. Materials and Methods: We sequenced 341 cancer-associated genes in cell-free DNA from cerebrospinal fluid (CSF) obtained through routine lumbar puncture in 53 patients with suspected or known CNS involvement by cancer. Results: We detected high-confidence somatic alterations in 63% (20 of 32) of patients with CNS metastases of solid tumors, 50% (six of 12) of patients with primary brain tumors, and 0% (zero of nine) of patients without CNS involvement by cancer. Several patients with tumor progression in the CNS during therapy with inhibitors of oncogenic kinases harbored mutations in the kinase target or kinase bypass pathways. In patients with glioma, the most common malignant primary brain tumor in adults, examination of cellfree DNA uncovered patterns of tumor evolution, including temozolomide-associated mutations. Conclusion: The study shows that CSF harbors clinically relevant genomic alterations in patients with CNS cancers and should be considered for liquid biopsies to monitor tumor evolution in the CNS. © 2016 by American Society of Clinical Oncology.
Journal Title: Journal of Clinical Oncology
Volume: 34
Issue: 20
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 2016-07-10
Start Page: 2404
End Page: 2415
Language: English
DOI: 10.1200/jco.2016.66.6487
PROVIDER: scopus
PUBMED: 27161972
PMCID: PMC4981784
DOI/URL:
Notes: Article -- Export Date: 2 August 2016 -- Source: Scopus
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MSK Authors
  1. Marc Rosenblum
    380 Rosenblum
  2. Antonio Marcilio Padula Omuro
    200 Omuro
  3. Elena Pentsova
    101 Pentsova
  4. Christian Grommes
    96 Grommes
  5. Katherine S Panageas
    436 Panageas
  6. Agnes Viale
    235 Viale
  7. Michael Forman Berger
    602 Berger
  8. Martin Fleisher
    303 Fleisher
  9. Adrienne Boire
    63 Boire
  10. Shahiba Q Ogilvie
    21 Ogilvie
  11. Samuel Royden Briggs
    18 Briggs
  12. Ronak Hasmukh Shah
    51 Shah
  13. Daoqi You
    34 You
  14. Xuling   Lin
    15 Lin
  15. Jiabin   Tang
    5 Tang
  16. Fanli   Meng
    22 Meng