A pilot study on the use of cerebrospinal fluid cell-free DNA in intramedullary spinal ependymoma.

Abstract

Cerebrospinal fluid (CSF) represents a promising source of cell-free DNA (cfDNA) for tumors of the central nervous system. A CSF-based liquid biopsy may obviate the need for riskier tissue biopsies and serve as a means for monitoring tumor recurrence or response to therapy. Spinal ependymomas most commonly occur in adults, and aggressive resection must be delicately balanced with the risk of injury to adjacent normal tissue. In patients with subtotal resection, recurrence commonly occurs. A CSF-based liquid biopsy matched to the patient's spinal ependymoma mutation profile has potential to be more sensitive then surveillance MRI, but the utility has not been well characterized for tumors of the spinal cord. In this study, we collected matched blood, tumor, and CSF samples from three adult patients with WHO grade II intramedullary spinal ependymoma. We performed whole exome sequencing on matched tumor and normal DNA to design Droplet Digital™ PCR (ddPCR) probes for tumor and wild-type mutations. We then interrogated CSF samples for tumor-derived cfDNA by performing ddPCR on extracted cfDNA. Tumor cfDNA was not reliably detected in the CSF of our cohort. Anatomic sequestration and low grade of intramedullary spinal cord tumors likely limits the role of CSF liquid biopsy.

• Authors: Ian David Connolly, Yingmei Li, Wenying Pan, Eli Johnson, Linya You, Hannes Vogel, John Ratliff, Melanie Hayden Gephart
• Journal: Journal of neuro-oncology (J Neurooncol) Vol. 135 Issue 1 Pg. 29-36 (Oct 2017) ISSN: 1573-7373 [Electronic] United States
• PMID: 28900844 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biomarkers
• Cell-Free Nucleic Acids

Topics

• Adult
• Biomarkers (blood, cerebrospinal fluid)
• Cell-Free Nucleic Acids (cerebrospinal fluid)
• Cohort Studies
• Ependymoma (genetics, metabolism, pathology, surgery)
• Humans
• Liquid Biopsy
• Male
• Middle Aged
• Mutation
• Neoplasm Grading
• Pilot Projects
• Spinal Cord Neoplasms (genetics, metabolism, pathology, surgery)
• Exome Sequencing