Abstract
Background Genomic testing gives guidance to the treatment options in lung adenocarcinoma patients, but some patients are unable to obtain tissue samples due to lesion location or intolerance. Cell-free circulating tumor DNA (ctDNA) tested in plasma or pleural effusion is an advanced access to solve the problem. Our study descriptively identified the genetic variations of advanced Chinese lung adenocarcinoma patients and analyzed the overall survival of patients with EGFR mutations. Methods A total of 152 patients' plasma samples were included, and gene mutations were detected by NGS using an Illumina Miseq tabletop sequencer. Results Frequencies of altered were EGFR 46.05%, ALK 7.24%, KRAS 6.58%, PIK3CA 6.58%, PTEN 2.63%, HER2 1.97%, MET 1.97%, BRAF 1.32%, NF1 1.32%, and ROS1 0.66%. We identified 48 cases with double or triple driver gene mutations. Multiple mutations were more frequently observed in EGFR and PIK3CA genes. Patients harboring coexistent mutations with an EGFR mutation tended to have a shorter overall survival than those with exclusively EGFR mutations. Conclusion EGFR, ALK, and KRAS were common driver gene in Chinese patients with stage IV lung adenocarcinoma. Multiple mutations were detected in the ctDNA samples and involve more EGFR and PIK3CA mutations. The existence of coexisting gene mutations may have adverse effects on the prognosis of patients with EGFR mutation. The unknown mutations discovered by NGS may provide new targets for gene targeting therapy, and ctDNA test by NGS is an effective method for making appropriate treatment choices.
Highlights
At present, lung cancer is still the leading cause of cancer incidence and mortality worldwide [1]
These eligible patients received NGS assays in The First Hospital of Jilin University from January 2016 to December 2019. 14 genes (EGFR, ALK, KRAS, PIK3CA, PTEN, HER2, MET, BRAF, AKT1, NF1, ROS1, RET, NRAS, and MAP2K1) were detected for 94 patients, 139 genes were detected for 25 patients and 425 genes for 33 patients, and the choices were made by patients and their physicians
Blood Samples and circulating tumor DNA (ctDNA) Extraction. 5 ml of whole blood was collected by ethylenediamine tetraacetic acid (EDTA) blood collection tubes transported at ambient temperature to Nanjing Shihe Jiyin Biotech Inc. (Nanjing, China) no more than 72 h
Summary
Lung cancer is still the leading cause of cancer incidence and mortality worldwide [1]. Genomic testing is crucial to explore potential molecular targets for the treatment of lung cancer, thereby reducing the mortality of NSCLC. We identified the genomic mutation profile of ctDNA in real-world Chinese stage IV lung adenocarcinoma patients using the NGS panel. Genomic testing gives guidance to the treatment options in lung adenocarcinoma patients, but some patients are unable to obtain tissue samples due to lesion location or intolerance. Our study descriptively identified the genetic variations of advanced Chinese lung adenocarcinoma patients and analyzed the overall survival of patients with EGFR mutations. EGFR, ALK, and KRAS were common driver gene in Chinese patients with stage IV lung adenocarcinoma. The unknown mutations discovered by NGS may provide new targets for gene targeting therapy, and ctDNA test by NGS is an effective method for making appropriate treatment choices
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