Epidermal growth factor receptor (EGFR) mutations in the serum of non–small cell lung cancer (NSCLC) patients as a marker to select patients for targeted therapy.
Background: The utility of serum as a specimen for epidermal growth factor receptor (EGFR) mutation detection and to select patients most likely to benefit from tyrosine kinase inhibitor (TKI) therapy is unclear. Methods: EGFR mutations (exons 19, 20, 21) were determined in the serum (n = 247) and tissue (n = 170) of treatment-naïve adenocarcinoma patients using allele-specific polymerase chain reaction (AS-PCR) technique. The prognostic value of EGFR in serum was evaluated following treatment based on overall survival (OS) and progression-free survival (PFS). Results: EGFR mutations in exon 19 and/or exon 21 were detected in 79/247 (31.9%) patients in serum and 52/170 (30.6%) patients in tissue. The presence of EGFR mutations in serum or tissue was significantly associated with OS, and the presence of EGFR mutations in serum, but not in tissue, showed a significant association with longer PFS. In patients who received gefitinib, those who were mutation positive in tissue or serum had a significantly better OS and PFS compared with mutation-negative patients. The OS and PFS of patients with detectable EGFR mutations both in serum and in tissue were significantly better than in patients without mutations in either specimen. Patients with mutations in both serum and tissue had a 70% lower risk of overall mortality and 46% lower risk of disease progression compared to patients with mutations only in tissue but not in the serum. Conclusion: Serum EGFR detection demonstrates good prognostic value for the response after treatment in advanced non–small cell lung cancer and may be a promising specimen for liquid biopsy for selecting patients most likely to benefit from TKI therapy.