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Updated: Aug 17, 2025

Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
[Molecular analysis of cell-free DNA in peripheral blood in biliary tract malignancies]
Szilvia Lilla Csoma1, Judit Bedekovics1, Gergő Veres2
11 Debreceni Egyetem, Általános Orvostudományi Kar, Pathologia Intézet Debrecen, Nagyerdei krt. 98., 4032 Magyarország.
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.

