Quantification of tumor-derived cell free DNA(cfDNA) by digital PCR (DigPCR) in cerebrospinal fluid of patients with BRAFV600 mutated malignancies
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Parisa Momtaz1, Elena Pentsova1, Omar Abdel-Wahab1, Eli Diamond1, David Hyman1, Taha Merghoub1, Daoqi You1, Billel Gasmi1, Agnes Viale1, Paul B. Chapman1,2
1Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, USA
2Department of Medicine, Weill Cornell Medical College, New York, USA
Parisa Momtaz, email: [email protected]
Keywords: cell free DNA, digital PCR, BRAF mutated melanoma, erdheim-chester disease, cerebrospinal fluid
Abbreviations: cell free DNA, cfDNA; digital PCR, DigPCR; erdheim-chester disease, ECD; cerebrospinal fluid, CSF; central nervous system, CNS
Received: October 04, 2016 Accepted: October 25, 2016 Published: November 16, 2016
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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