학술논문

Clinical significance of BRAF mutation status in circulating tumor DNA of metastatic melanoma patients at baseline.
Document Type
Article
Source
Experimental Dermatology. Oct2016, Vol. 25 Issue 10, p783-788. 6p.
Subject
*NEUROENDOCRINE tumors
*NUCLEIC acids
*MELANOMA
*DYSPLASTIC nevus syndrome
*PLASMA cells
*GENETIC mutation
Language
ISSN
0906-6705
Abstract
Circulating tumor DNA is a promising non-invasive tool for cancer monitoring. The main objective of our work was to investigate the relationship between mutant BRAF DNA in plasma and clinical response. Thirty-eight stage IV patients with a V600 mutated BRAF melanoma were included prior to any treatment. DNA was extracted from plasma and mutant DNA was detected using the amplification-refractory mutation system method. Before the beginning of any treatment, the corresponding BRAF mutation was detected in 29 of the 38 tested plasma samples (76.3% positive per cent agreement). We observed a strong correlation between the presence of circulating mutated DNA and overall survival ( OS; P=.02), and with the number of metastatic sites ( P=.01). The presence of circulating mutated DNA was also strongly correlated with serum LDH activity ( P<.01) and S100 protein concentration ( P<.01). Finally, seven patients presented discordant BRAF status in different tumor sites. In all these patients, the test performed on ct DNA was positive, suggesting that ct DNA analysis might be less sensitive to tumor heterogeneity. Altogether, these results suggest that plasmatic mutant BRAF DNA is a prognostic factor of OS, correlated with tumor burden. In addition, it represents an interesting alternative source of DNA to detect BRAF mutations before treatment. [ABSTRACT FROM AUTHOR]