Comparison of the mutation patterns between tumor tissue and cell-free DNA in stage IV gastric cancer

• Published in: Aging (Albany, NY.) Vol. 15; no. 3; pp. 777 - 790
• Main Authors: Kung, Ching-Yun, Fang, Wen-Liang, Hung, Yi-Ping, Huang, Kuo-Hung, Chen, Ming-Huang, Chao, Yee, Lin, Shih-Chieh, Li, Anna Fen-Yau, Lo, Su-Shun, Wu, Chew-Wun
• Format: Journal Article
• Language: English
• Published: United States Impact Journals 10.02.2023
• Subjects: Biomarkers, Tumor - genetics; Cell-Free Nucleic Acids - genetics; DNA, Neoplasm - genetics; High-Throughput Nucleotide Sequencing; Humans; Mutation; Research Paper; Stomach Neoplasms - genetics; specificity; NGS; sensitivity; tumor DNA; cfDNA
• ISSN: 1945-4589; 1945-4589
• DOI: 10.18632/aging.204512

Compared to stage I-III gastric cancer (GC), the level of cell-free DNA (cfDNA) was significantly higher in stage IV GC. The mutation patterns of different metastatic patterns between cfDNA and tumor DNA in stage IV GC have not yet been reported. We used next-generation sequencing (NGS) to analyze cfDNA and tumor DNA in 56 stage IV GC patients. Tumor DNA and cfDNA were analyzed using a 29-gene NGS panel. In tumor samples, the most commonly mutated gene was (64%), followed by (62%), (60%) and (58%). In cfDNA samples, the most commonly mutated genes were (19%) and (19%), followed by (18%), (14%) and (14%). The concordance of mutation patterns in these 29 genes was 42.0% between cfDNA and tumor DNA. A specificity of 100% was found when using the mutation status of cfDNA to predict mutations in tumor samples. The sensitivity of the mutation status of cfDNA to predict mutation in tumor samples was highest in (88.9%), followed by (80%), (75%) and (75%). For cfDNA with mutations, patients were more likely to develop distant lymphatic metastasis than peritoneal metastasis. Patients with multiple-site metastases had significantly more mutated spots than patients with single-site metastasis. Due to the high sensitivity and specificity of some genes in the prediction of mutation in tumor samples, monitoring the mutation pattern of cfDNA may be useful in the stage IV GC treatment.