Liquid biopsy and tissue biopsy for epidermal growth factor receptor (EGFR) mutation analysis in lung adenocarcinoma

Abstract

Background: Epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC), especially the type of adenocarcinoma, have emerged as a significant therapeutic target. Obtaining tissue samples from patients with advanced lung cancer has been challenging and the tissue samples often exhibit tumour heterogeneity depending on the location in the lungs. Notably, peripheral blood liquid biopsy exhibits better specificity in detecting EGFR mutations in NSCLC patients, yet tissue biopsy remains necessary for those with negative blood biopsy results due to its lower sensitivity.

Methods: We compared EGFR test from histo/cytopathological samples versus blood of naïve adenocarcinoma NSCLC at Persahabatan Hospital, Jakarta. EGFR mutation test from pathological sample was done using PCR HRM, Fragment Analysis, Direct Sequencing and AmoyDx, whereas EGFR mutation testing from blood was using Therascreen EGFR Plasma RGQ PCR Kit.

Results: Among 100 subject recruited, 89 matched samples were eligible for evaluation.  EGFR mutation were detected positive from 39.3% tissue biopsy compare with only 22.5% positive EGFR mutation from blood. Using the tissue biopsy as standard, the sensitivity and positivity of liquid biopsy was 54.29% and 98.15%, with positive predictive value of 95% and negative predictive value of 76.81%.

Conclusion: Liquid biospy has high specificity in detecting EGFR mutation in naive adenocarcinoma NSCLC. However, its use in the clinic cannot replace the role of the PA examination to determine the type of cancer cells.