Quantification of tumor-derived cell free DNA(cfDNA) by digital PCR (DigPCR) in cerebrospinal fluid of patients with BRAFV600 mutated malignancies

Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRA...

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Bibliographic Details
Published in:Oncotarget Vol. 7; no. 51; p. 85430
Main Authors: Momtaz, Parisa, Pentsova, Elena, Abdel-Wahab, Omar, Diamond, Eli, Hyman, David, Merghoub, Taha, You, Daoqi, Gasmi, Billel, Viale, Agnes, Chapman, Paul B
Format: Journal Article
Language:English
Published: United States 20.12.2016
Subjects:
Adult
Aged
Biomarkers, Tumor - cerebrospinal fluid
Biomarkers, Tumor - genetics
Central Nervous System Neoplasms - cerebrospinal fluid
Central Nervous System Neoplasms - enzymology
Central Nervous System Neoplasms - genetics
Central Nervous System Neoplasms - secondary
Circulating Tumor DNA - cerebrospinal fluid
Circulating Tumor DNA - genetics
DNA Mutational Analysis - methods
Erdheim-Chester Disease - cerebrospinal fluid
Erdheim-Chester Disease - enzymology
Erdheim-Chester Disease - genetics
Erdheim-Chester Disease - pathology
Female
Humans
Magnetic Resonance Imaging
Male
Melanoma - cerebrospinal fluid
Melanoma - enzymology
Melanoma - genetics
Melanoma - secondary
Middle Aged
Mutation
Polymerase Chain Reaction - methods
Predictive Value of Tests
Proto-Oncogene Proteins B-raf - cerebrospinal fluid
Proto-Oncogene Proteins B-raf - genetics
Skin Neoplasms - cerebrospinal fluid
Skin Neoplasms - enzymology
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Spinal Puncture
erdheim-chester disease
digital PCR
BRAF mutated melanoma
cell free DNA
cerebrospinal fluid
ISSN:1949-2553, 1949-2553
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Summary:Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0.15-10.56 copies/μL). Conventional cytology was negative in all patients except in the two patients with markedly elevated levels of tumor-derived cfDNA. In 2 patients with serial measurements, CSF tumor-derived cfDNA levels reflected response to treatment or progressive disease. CSF tumor-derived cfDNA has the potential to serve as a diagnostic tool that complements MRI and may be more sensitive than conventional cytology.
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ISSN:1949-2553
1949-2553
DOI:10.18632/oncotarget.13397