Related Experiment Video
Updated: Jul 18, 2026
Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
Identification of EGFR mutations in esophageal cancer
1Department of Surgery, Medical Institute of Bioregulation, Kyushu University, 4546 Tsurumihara, Beppu 874-0838, Japan.
Background:
It is well known that the prognosis for esophageal cancer is worse than for other digestive cancers in spite of multimodality treatment, and there is an urgent need to improve this situation. The epidermal growth factor receptor (EGFR) inhibitor, gefitinib, was approved in Japan to treat advanced non-small cell lung cancer patients and several papers have since reported that the successfully treated patients had genetic mutations in EGFR.
Purpose:
The aim of this study was to investigate the existence of EGFR mutations in esophageal cancer cell lines and primary lesions, and also to explore the possibility of treating esophageal cancer using gefitinib.
Materials And Methods:
Nineteen esophageal cancer cell lines were cultured and DNA was extracted using an ultracentrifugation method. Fifty cases of primary cancer and corresponding normal tissue samples were obtained and DNA was extracted using the same protocol. Nested PCR and DNA sequencing targeting exons 18, 19, 20 and 21 of EGFR were performed to investigate the presence of mutations in esophageal cancer cell lines and primary tumors.
Results:
Three of the 19 cell lines had the same silent mutation at nucleotide 2607, a G-to-A substitution in exon 20. One of the 50 patients had an EGFR mutation in codon 719, resulting in an amino acid substitution from glycine to aspartic acid.
Conclusion:
EGFR mutations in esophageal carcinoma are rare but do exist, and thus gefitinib could be included in esophageal cancer treatment regimens by selecting those patients who possess such mutations.
Insights
Epidermal growth factor receptor (EGFR) mutations are rare in esophageal cancer but exist. Gefitinib may treat patients with these specific EGFR mutations, offering a new therapeutic avenue.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Esophageal cancer has a poor prognosis despite multimodal treatments, necessitating novel therapeutic strategies.
- Epidermal growth factor receptor (EGFR) inhibitors like gefitinib are effective in non-small cell lung cancer, particularly in patients with EGFR mutations.
Purpose of the Study:
- To identify EGFR mutations in esophageal cancer cell lines and primary tumors.
- To evaluate the potential of gefitinib as a treatment for esophageal cancer based on EGFR mutation status.
Main Methods:
- DNA extraction from 19 esophageal cancer cell lines and 50 primary tumor/normal tissue pairs.
- Nested PCR and DNA sequencing of EGFR exons 18, 19, 20, and 21 to detect mutations.
Main Results:
- A silent mutation in exon 20 of EGFR was found in 3 of 19 cell lines.
- One patient (1/50) exhibited an EGFR mutation in codon 719 (glycine to aspartic acid substitution).
Conclusions:
- EGFR mutations are infrequently present in esophageal carcinoma.
- Gefitinib treatment may be beneficial for esophageal cancer patients with identified EGFR mutations, enabling targeted therapy.
Related Concept Videos
02:38Mitogens and the Cell Cycle
01:21Barrett Esophagus-I: Introduction
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
01:21Barrett Esophagus-II: Clinical Manifestations and Management
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...