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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Vydáno v:	Oncotarget Ročník 7; číslo 51; s. 85430
Hlavní autoři:	Momtaz, Parisa, Pentsova, Elena, Abdel-Wahab, Omar, Diamond, Eli, Hyman, David, Merghoub, Taha, You, Daoqi, Gasmi, Billel, Viale, Agnes, Chapman, Paul B
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 20.12.2016
Témata:	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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Popis
Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1949-2553 1949-2553
DOI:	10.18632/oncotarget.13397