# Frequency of the L858R Mutation in Exon 21 of the Epidermal Growth Factor Receptor in Patients with Non-Small Cell Lung Cancer

**Authors:** Hossein Ayatollahi, Amir Hossein Jafarian, Zohreh Emamdadi, Farideh Ranjbar, Hassan Mehrad-Majd, Batul Oudi

PMC · DOI: 10.30699/ijp.2025.2057190.3438 · Iranian Journal of Pathology · 2025-11-11

## TL;DR

This study found the L858R EGFR mutation occurs in 6% of Iranian non-small cell lung cancer patients and is not linked to survival differences.

## Contribution

The study reports a lower frequency of the L858R EGFR mutation in an Iranian NSCLC cohort compared to global data.

## Key findings

- The L858R mutation was found in 6% of 336 NSCLC patients.
- The mutation showed no significant association with clinicopathological features.
- Tumor Grade I was identified as a significant prognostic factor for survival.

## Abstract

Epidermal growth factor receptor (EGFR) mutations are among the most common oncogenic drivers in non-small cell lung cancer (NSCLC). The L858R mutation in exon 21 of the EGFR gene is associated with responsiveness to targeted therapies in NSCLC patients. This study aimed to evaluate the frequency of L858R mutation and its correlation with clinicopathological characteristics in NSCLC patients.

In this cross-sectional study, Allele-specific Polymerase Chain Reaction (ASPCR) was used to detect L858R mutation in genomic DNA obtained from 336 patients diagnosed with NSCLC. Patients were categorized into mutation-positive groups and mutation-negative subgroups. Associations between the L858R mutation, clinicopathological features, and overall survival were analyzed using appropriate statistical methods.

The L858R mutation was identified in 6% of patients (20 out of 336) and showed no significant association with clinicopathological features such as age, gender, tumor grade, histology subtypes, or metastasis (all P > 0.05). Survival analysis indicated an overall mortality rate of 81.8%, with no statistically significant difference in median survival between mutation-negative (11 months) and mutation-positive groups (8 months, P=0.246). Cox regression analysis identified Tumor Grade I as a b significant prognostic factor in both Univariate (HR=0.46, P=0.031) and multivariate (HR=0.46, P=0.040) models.

The frequency of the L858R mutation in this Iranian cohort with NSCLC was lower than that reported in global studies. However, its association with metastasis and mortality indicates the potential clinical relevance of this mutation in treatment planning.

## Linked entities

- **Genes:** EGFR (epidermal growth factor receptor) [NCBI Gene 1956]
- **Diseases:** non-small cell lung cancer (MONDO:0005233), NSCLC (MONDO:0005233)

## Full-text entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, TXK (TXK tyrosine kinase) [NCBI Gene 7294] {aka BTKL, PSCTK5, PTK4, RLK, TKL}, ZHX2 (zinc fingers and homeoboxes 2) [NCBI Gene 22882] {aka AFR1, RAF}, ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, AKT1 (AKT serine/threonine kinase 1) [NCBI Gene 207] {aka AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA}, EGFR (epidermal growth factor receptor) [NCBI Gene 1956] {aka ERBB, ERBB1, ERRP, HER1, NISBD2, NNCIS}, PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) [NCBI Gene 5291] {aka P110BETA, PI3K, PI3KBETA, PIK3C1}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, ALK (ALK receptor tyrosine kinase) [NCBI Gene 238] {aka ALK1, CD246, NBLST3}, ROS1 (ROS proto-oncogene 1, receptor tyrosine kinase) [NCBI Gene 6098] {aka MCF3, ROS, c-ros-1}
- **Diseases:** SCC (MESH:D002294), NSCLC (MESH:D002289), lung adenocarcinoma (MESH:D000077192), metastatic disease (MESH:D000092182), Lung cancer (MESH:D008175), Adenocarcinoma (MESH:D000230), Tumor (MESH:D009369), SCLC (MESH:D055752), deaths (MESH:D003643), carcinogenic (MESH:D011230), metastases (MESH:D009362)
- **Chemicals:** xylene (MESH:D014992), osimertinib (MESH:C000596361), paraffin (MESH:D010232), Formalin (MESH:D005557), alcohol (MESH:D000438)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** L858R

## Full text

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## Figures

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## References

43 references — full list in the complete paper: https://tomesphere.com/paper/PMC12911665/full.md

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Source: https://tomesphere.com/paper/PMC12911665