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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Brain tumor mutations detected in cerebral spinal fluid
Wenying Pan1, Wei Gu2, Seema Nagpal3
1Department of Bioengineering.
Clinical Chemistry
|January 22, 2015
Summary
Tumor DNA is detectable in cerebrospinal fluid (CSF) for brain tumor patients, offering a promising liquid biopsy alternative to blood. This enables monitoring of brain metastases and personalized cancer care.
Area of Science:
- Neuro-oncology
- Molecular diagnostics
- Genomics
Background:
- Detecting tumor-derived cell-free DNA (cfDNA) in blood is difficult for brain tumor patients due to the blood-brain barrier.
- Cerebrospinal fluid (CSF) presents a potential liquid biopsy for brain tumors, allowing analysis of circulating tumor DNA.
- Key characteristics of tumor mutations in CSF remain largely undetermined.
Purpose of the Study:
- To investigate the detectability and characteristics of tumor mutations in CSF cfDNA.
- To explore CSF as a liquid biopsy for brain tumor characterization.
- To evaluate strategies for clinical diagnosis using CSF tumor mutations.
Main Methods:
- Digital PCR and targeted amplicon sequencing were used to quantify tumor mutations in CSF and plasma cfDNA from 7 brain tumor patients.
- Cancer panel sequencing was applied to comprehensively analyze somatic mutations in CSF from a patient with suspected leptomeningeal disease.
Main Results:
- Tumor mutations were detected in CSF cfDNA from 6 out of 7 patients with solid brain tumors.
- CSF tumor mutant allele concentrations varied significantly, ranging from less than 5 to nearly 3000 copies/mL.
- Seven somatic mutations were identified in the CSF of a leptomeningeal disease patient, consistent with primary tumor biopsy results.
Conclusions:
- Tumor mutations in cfDNA are detectable in the CSF of patients with diverse primary and metastatic brain tumors.
- Two diagnostic strategies were proposed: targeted detection of driver mutations for monitoring brain metastases and global genomic characterization for personalized treatment.
