Tumor-Related Methylated Cell-Free DNA and Circulating Tumor Cells in Melanoma.

摘要: Solid tumor release into the circulation cell-free DNA (cfDNA) and circulating cells (CTCs) which represent promising biomarkers for cancer diagnosis. Circulating may be studied in plasma from patients by detecting specific alterations, such as genetic or epigenetic modifications. Ras association domain family 1 isoform A (RASSF1A) is a suppressor gene silenced promoter hypermethylation variety of human cancers including melanoma. The aim present study was to assess diagnostic performance tumor-related methylated cfDNA marker melanoma compare this parameter with presence CTCs. RASSF1A methylation quantified qPCR consecutive series 84 68 healthy controls. In subset cases, CTCs assessed filtration method (Isolation Size Epithelial Tumor Cells, ISET) well an indirect based on detection tyrosinase mRNA RT-qPCR. distribution investigated cases controls predictive capability means area under ROC curve (AUC). percentage significantly higher each class (in situ, invasive metastatic) than subjects (Pearson chi-squared test, p < 0.001). concentration detectable quantity alleles biomarker showed good terms AUC) discriminating between This associated did not show significant correlation CTCs, but, when two parameters are jointly considered, we obtain sensitivity positive metastatic melanomas. Our data suggest that complementary aspects liquid biopsy improve diagnosis clinical management patients.