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


Authors: Momtaz, P.; Pentsova, E.; Abdel-Wahab, O.; Diamond, E.; Hyman, D.; Merghoub, T.; You, D.; Gasmi, B.; Viale, A.; Chapman, P. B.
Article Title: Quantification of tumor-derived cell free DNA(cfDNA) by digital PCR (DigPCR) in cerebrospinal fluid of patients with BRAFV600 mutated malignancies
Abstract: 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. Tumorderived 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.
Keywords: cerebrospinal fluid; erdheim-chester disease; digital pcr; braf mutated melanoma; cell free dna
Journal Title: Oncotarget
Volume: 7
Issue: 51
ISSN: 1949-2553
Publisher: Impact Journals  
Date Published: 2016-12-20
Start Page: 85430
End Page: 85436
Language: English
DOI: 10.18632/oncotarget.13397
PROVIDER: scopus
PUBMED: 27863426
PMCID: PMC5356746
DOI/URL:
Notes: Article -- Export Date: 2 February 2017 -- Source: Scopus
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MSK Authors
  1. Taha Merghoub
    321 Merghoub
  2. Paul Chapman
    313 Chapman
  3. David Hyman
    350 Hyman
  4. Elena Pentsova
    101 Pentsova
  5. Agnes Viale
    235 Viale
  6. Eli Louis Diamond
    142 Diamond
  7. Daoqi You
    34 You
  8. Billel Gasmi
    18 Gasmi
  9. Parisa   Momtaz
    38 Momtaz