[Molecular analysis of cell-free DNA in peripheral blood in biliary tract malignancies].

Introduction: Tumor-derived free-circulating DNA in peripheral blood allows the study of the molecular genetic profile in cholangiocarcinomas and even the effective monitoring of the response to chemotherapy.

Objective: The use of a liquid biopsy is a favourable solution, as repeated invasive histological sampling is much more practicable and avoidable. The efficiency of liquid biopsy-based sequencing increases with tumor progression and thus with the release of larger amounts of free DNA.

Method: In the present study, clinically relevant point mutations were detected from both histological and liquid biopsy specimens of bile duct tumors.

Results: During next-generation sequencing, histological and DNA samples obtained during liquid biopsy from 33 patients were analyzed using a 67-gene solid tumor panel.

Discussion: In our prospective study, we present a minimally invasive approach to identify molecular genetic changes in cholangiocarcinoma and gallbladder tumors.

Conclusion: The diagnostic application of free DNA reflects the spatial heterogeneity of tumors, making it a new approach to precision oncology treatments. Orv Hetil. 2022; 163(50): 1982-1991.