Targeted Therapy Directed Genes’ Genomic Profiling in Circulating Tumor DNA of Lung Cancer Patients

Baia L, Songa J, Zhaia J, Lia J, Lua X, Zhoua Y and Zhoua J

Department of Laboratory Medicine, West China Hospital, Sichuan University, China
These authors contributed equally to this work

^*Correspondance to: Yi Zhoua 

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Abstract:

Background: Circulating tumor DNA (ctDNA) is an easily accessible source to detect actionable gene alterations and discover drug-resistant mutations in lung cancer. This study investigated the ctDNA genomic profile for lung cancer patients to provide valuable information for clinical decision. Methods: Six hundred and seventy-two lung cancer patients were enrolled in this retrospective study, and peripheral blood from each patient was collected for next generation sequencing based on Illumina NextSeq 550 platform, using a 23-gene targeted panel. Results: About 73% of patients were detected at least one genetic alteration in plasma ctDNA, and 45.54% of patients obtained drug-sensitive/drug-resistance information. The most frequently mutated gene was EGFR (42.41%), EGFR mutation was associated with female, non-smokers and adenocarcinoma, while KRAS mutation tended to occur in males and smokers. Patients received targeted therapy before had higher frequency of EGFR mutation but lower mutation rate of KRAS, PTEN, KIT and FGFR2. Brain metastasis patients have a relatively lower positive rate (69.23%). Patients with EGFR mutations detected in ctDNA tended to have bone metastasis, while PIK3CA and KRAS mutations were enriched in liver metastasis, and FGFR1, HER2 for adrenal metastasis. Conclusion: This study showed that mutation pattern and positive rate in plasma ctDNA were closely associated with smoking, gender, pathological type, treatment and metastasis. Some gene alterations might have organotropism preference about metastatic sites.

Keywords:

Lung cancer; Circulating tumor DNA; Metastasis; Targeted therapy

Cite the Article:

Baia L, Songa J, Zhaia J, Lia J, Lua X, Zhoua Y, et al. Targeted Therapy Directed Genes’ Genomic Profiling in Circulating Tumor DNA of Lung Cancer Patients. Clin Oncol. 2024;9:2051..