A mutational profile of melanoma CTC-derived cell line

Ex-vivo culture of circulating tumor cells (CTCs) represents a valuable laboratory resource for in depth characterization of rare cell populations responsible for disease progression. The present research provides the experimental evidence that CTCs, isolated a patient with metastatic melanoma, give rise to a stable CTC line with a phenotypic heterogeneity as well as a strong metastatic potential. Here, we compared the genetic mutations between cell line derived from CTCs of melanoma patient and their matched tumor by using targeted sequencing. In particular, the CTC-derived cell line was screened for 50 cancer-associated genes with the aim to verify whether this population harbored the molecular signatures specific of primitive tumor as well as new acquired mutations. Genetic analysis showed that CTC line had a mutational landscape same to primary tumor. These data confirmed the potential of CTCs as alternative cellular resources to identify somatic mutations of primary tumors.