Microarray-based analysis of the BRAF V600 mutations in circulating tumor DNA in melanoma patients.
Cancer Genet
; 250-251: 25-35, 2021 01.
Article
in En
| MEDLINE
| ID: mdl-33249369
ABSTRACT
BACKGROUND:
Circulating tumor DNA (ctDNA) holds great potential for cancer therapy and can provide diagnostic and prognostic information before and during treatment.METHODS:
Plasma DNA samples from 97 melanoma patients, 20 healthy donors and 3 patients with benign skin tumors were analyzed by microarray analysis and droplet digital PCR (ddPCR).RESULTS:
A microarray for simultaneous detection of six BRAF V600 mutations in ctDNA has been developed. The method allows the detection of 0.05% mutated DNA from WT DNA background. For paired samples (pre-surgery plasma and tumor tissue) isolated from 74 patients, the concordance of genotypes between tumor DNA and ctDNA was 65% (48/74). BRAF mutations in ctDNA were detected in 27/50 patients with BRAF-positive tumors and in 3/24 patients with BRAF wild-type tumors. The presence of ctDNA BRAF mutations in 23 plasma samples from melanoma patients undergoing therapy correlated significantly with tumor progression (P=0.005). The increase in cell-free DNA levels measured by ddPCR also correlated with disease progression (P=0.02). The concordance of results obtained by microarray identification of BRAF mutations and those obtained by ddPCR was 91%.CONCLUSION:
The novel microarray-based approach can be a useful non-invasive tool for accurate identification of ctDNA BRAF mutations to monitor disease progression.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Neoplasms
/
Proto-Oncogene Proteins B-raf
/
Circulating Tumor DNA
/
Melanoma
/
Mutation
Type of study:
Observational_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Cancer Genet
Year:
2021
Document type:
Article