Utility of Circulating Tumor DNA Assay in Identifying Mutations and Guiding Matched Targeted Therapy in Lung Cancers
- Kun Li 1, Nana Zhang 1, Bing Xu 2, Zichen Liu 1, Dan Zhao 1, Yujie Dong 1, Jing Mu 1, Haifeng Lin 1, Guangyu Shan 2, Sihang Gao 2, Bo Yu 2, Xiaoxi Pan 2, Yanrong Wang 2, Dongxing Zhang 2, Nanying Che 1, Xiaoyong Ji 2
- Kun Li 1, Nana Zhang 1, Bing Xu 2
- 1Pathology Department, Beijing Chest Hospital, Capital Medical University, Beijing, China.
- 2Department of Bioinformatics, Beijing USCI Medical Devices Co., Ltd., Beijing, China.
- 0Pathology Department, Beijing Chest Hospital, Capital Medical University, Beijing, China.
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View abstract on PubMed
Summary
This summary is machine-generated.Circulating tumor DNA (ctDNA) testing effectively identifies lung cancer mutations, guiding targeted therapies and overcoming tumor heterogeneity. This noninvasive method improves genetic testing for advanced non-small cell lung cancer (NSCLC) patients.
Area Of Science
- Oncology
- Genomics
- Molecular Diagnostics
Background
- Tumor genomic profiling is crucial for selecting targeted therapies in lung cancer.
- Circulating tumor DNA (ctDNA) offers a noninvasive and reproducible alternative to tissue biopsy.
- Evaluating ctDNA's utility in mutation identification and targeted therapy guidance is essential.
Purpose Of The Study
- To assess the efficacy of ctDNA next-generation sequencing (NGS) in identifying mutations for lung cancer.
- To compare ctDNA assay performance against tissue biopsy and droplet digital PCR (ddPCR).
- To evaluate treatment responses to epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKI) guided by ctDNA results.
Main Methods
- 173 lung cancer patients underwent NGS using a 20-gene panel.
- ctDNA assay performance was compared with tissue biopsy and ddPCR.
- Treatment response to EGFR-TKI was assessed based on ctDNA assay findings.
Main Results
- ctDNA was detected in 61.85% of patients.
- ctDNA identified mutations missed by tissue biopsy, improving genetic testing rates in advanced NSCLC.
- High concordance (99.43%) was observed between ddPCR and ctDNA.
- 12 out of 17 patients receiving EGFR-TKI therapy guided by ctDNA achieved partial response.
Conclusions
- ctDNA assays partially overcome tumor heterogeneity and provide complementary genomic information.
- ctDNA-detected EGFR mutations can guide appropriate EGFR-TKI selection for advanced lung cancer.
- ctDNA NGS assays have limitations in fully identifying all tumor genomic alterations.
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