Comparison of the somatic mutations between circulating tumor DNA and tissue DNA in Chinese patients with non-small cell lung cancer.

Abstract

BACKGROUND:

Non-invasive liquid biopsies of circulating tumor DNA (ctDNA) is a rapidly growing field in the research of non-small cell lung cancer (NSCLC). In this study, factors affecting the concordance of mutations in paired plasma and tissue and the detection rate of ctDNA in real-world Chinese patients with NSCLC were identified.

METHODS:

Peripheral blood and paired formalin-fixed paraffin-embedded tumor tissue samples from 125 NSCLC patients were collected and analyzed by sequencing 15 genes. Serological biomarkers were tested by immunoassay.

RESULTS:

The overall concordance between tumor and plasma samples and the detection rate of somatic mutations in ctDNA was 69.2% and 78.4%, respectively. The concordance and detection rate raised with clinical stage were stage I: 14.3%, 14.3%; stage II: 53.3%, 60.0%; stage III: 71.4%, 78.1%; stage IV: 74.1%, 85.2%. With increased tumor diameter, the concordance and detection rate raised from 33.33% to 71.64% and 33.33% to 80.8%, respectively. For patients with partial response, stable disease, progressive disease, and who were treatment-naïve, the concordance and detection rates were 0.0%, 62.7%, 75.2, 73.6%, and 16.7%, 61.9%, 83.3%, 86.5%, respectively. Serological markers: CEA, CA125, NSE, and CYFRA21-1 were significantly higher for patients with detectable somatic alterations in ctDNA than in those who were ctDNA negative (17.08 ng/mL vs. 3.95 ng/mL, 21.63 U/mL vs. 18.27 U/mL, 17.68 U/mL vs. 14.14 U/mL, and 6.55 U/mL vs. 3.81 U/mL, respectively).

CONCLUSION:

Advanced-stage, treatment naïve or poor therapy outcome, and large tumor size were associated with a high concordance and detection rate. Patients with detectable mutations in ctDNA had a higher level of carcinoembryonic antigen, CA125, NSE, and CYFRA21-1.

• Authors: Meng Zhang, Yi Feng, Changda Qu, Meizhu Meng, Wenmei Li, Meiying Ye, Sisi Li, Shaolei Li, Yuanyuan Ma, Nan Wu, Shuqin Jia
• Journal: The International journal of biological markers (Int J Biol Markers) Vol. 37 Issue 4 Pg. 386-394 (Dec 2022) ISSN: 1724-6008 [Electronic] United States
• PMID: 35791673 (Publication Type: Journal Article)

Chemical References

• Circulating Tumor DNA
• antigen CYFRA21.1
• CA-125 Antigen
• DNA
• Biomarkers, Tumor

Topics

• Humans
• Carcinoma, Non-Small-Cell Lung (pathology)
• Circulating Tumor DNA (genetics)
• Lung Neoplasms (pathology)
• High-Throughput Nucleotide Sequencing
• Mutation
• CA-125 Antigen
• DNA
• China
• Biomarkers, Tumor (genetics)