Clinicopathologic Features and Molecular Biomarkers as Predictors of Epidermal Growth Factor Receptor Gene Mutation in Non-Small Cell Lung Cancer Patients

Abstract

Lung cancer ranks first in the incidence and mortality of cancer in the world, of which more than 80% are non-small cell lung cancer (NSCLC). The majority of NSCLC patients are in stage IIIB~IV when they are admitted to hospital and have no opportunity for surgery. Compared with traditional chemotherapy, specific targeted therapy has a higher selectivity and fewer adverse reactions, providing a new treatment direction for advanced NSCLC patients. Tyrosine kinase inhibitors of epidermal growth factor receptor (EGFR-TKIs) are the widely used targeted therapy for NSCLC patients. Their efficacy and prognosis are closely related to the mutation status of the EGFR gene. Clinically, detecting EGFR gene mutation is often limited by difficulty obtaining tissue specimens, limited detecting technology, and economic conditions, so it is of great clinical significance to find indicators to predict EGFR gene mutation status. Clinicopathological characteristics, tumor markers, liquid biopsy, and other predictors are less invasive, economical, and easier to obtain. They can be monitored in real-time, which is supposed to predict EGFR mutation status and provide guidance for the accurate, individualized diagnosis and therapy of NSCLC patients. This article reviewed the correlation between the clinical indicators and EGFR gene mutation status in NSCLC patients.

Correlations of switch/sucrose nonfermentable complex mutations with clinical outcomes in advanced non–small cell lung cancer

“…EGFR mutation rates were higher in our cohort (27.3%) than that in previous studies (11%–14%), 8,11 which is likely because of the higher prevalence of EGFR mutations in Asian NSCLC (50%–60%) compared to Caucasian NSCLC (10%–20%) 12,13,28 . In advanced EGFR‐mut NSCLC, we observed a significantly longer PFS after EGFR‐TKIs in patients with ARID1A‐mut compared to those with ARID1A‐wt.…”

“…EGFR mutation rates were higher in our cohort (27.3%) than that in previous studies (11%-14%), 8,11 which is likely because of the higher prevalence of EGFR mutations in Asian NSCLC (50%-60%) compared to Caucasian NSCLC (10%-20%). 12,13,28 In advanced EGFR-mut NSCLC, we observed a significantly longer PFS after EGFR-TKIs in patients with ARID1A-mut compared to those with ARID1A-wt. As a cBAF-specific subunit, ARID1A protein has been confirmed to be one of the critical components that modify the position of nucleosomes on DNA and is associated with proliferation, migration, invasion, and metastasis of various cancers.…”

Differential clinicopathological features, treatments and outcomes in patients with Exon 19 deletion and Exon 21 L858R EGFR mutation-positive adenocarcinoma non-small-cell lung cancer

“…Studies have shown that EGFR gene mutation frequency (Ex19del and exon 21 L858R) varies in different countries and regions around the globe 19 20. Exon 19 deletions are more commonly detected in Northern Asia as compared with Europe, North America and South America 19.…”

Identification of EGFR mutation status in male patients with non-small-cell lung cancer: role of 18F-FDG PET/CT and serum tumor markers CYFRA21-1 and SCC-Ag

“…A range of serum tumor markers (STMs) are used clinically for NSCLC screening and response and recurrence monitoring, e.g., carcinoembryonic antigen (CEA), squamous cell carcinoma antigen (SCC-Ag), cytokeratin 19 fragments (CYFRA 21-1), neuron-specific enolase (NSE) and ferritin [ 15 – 17 ]. The associations between EGFR mutations status and serum concentrations of CEA, SCCA and CYFRA21-1 have been assessed.…”

“…In general, EGFR mutations were more prevalent in patients with high concentration of CEA and low concentrations of CYFRA21- 1 and SCC-Ag [ 18 – 20 ]. However, conflicting reports were also observed [ 17 , 21 ].…”