Non-Invasive Cancer Genotyping: A Single-Center Experience on the Challenges, Limitations, and Methods

Background/aim: A comprehensive liquid biopsy panel was performed on 242 patients to explain the challenges, limitations, and methods in liquid biopsy testing. Material and methods: The majority of the patients who visited the clinic had advanced resistant cancer. There were four groups according to methods. The first group was Sophia (n = 100, 41.3%), the second was Qiagen (n = 100, 41.3%), the third was Archer-L (n = 30, 12.4%), and the fourth was Archer-T (n = 12, 5%). The patients underwent comprehensive liquid biopsy panels. Tier I-II-III variants have been discussed. Results: The mean age was 61.4. T790M was detected in 6 patients (2.5%). MET amplification was detected in 5 patients (5%, only Qiagen group), and NTRK gene fusions were detected in 5 patients (5%, only Archer-T group). The most commonly mutated gene in patients was TP53 (26%), and the most common mutations were EGFR exon 19 deletions and EGFR L858R. Conclusion: Focusing on one gene and one mutation is not appropriate due to different resistance mechanisms. Discoveries regarding liquid biopsy applications will lead to more clinically meaningful therapeutic approaches for cancer patients and will play an essential role in improving individual risk prediction, therapy, and prognosis.