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Updated: Aug 17, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Absence of epidermal growth factor receptor exon 18-21 mutation in hepatocellular carcinoma
Min-Cheng Su1, Huang-Chun Lien, Yung-Ming Jeng
1Department of Pathology, Min-Sheng General Hospital, 168, Ching-Kuo Road, Taoyuan City, Taiwan, ROC.
Abstract:
The epidermal growth factor receptor (EGFR) is overexpressed in many epithelial tumors and plays an important role in the tumorigenesis of these tumors. Inhibitors of EGFR reduce the proliferation rate of cancers and are promising therapeutic agents of cancers. Recently, two studies have identified somatic mutations in the exons 18-21 of EGFR that were strongly correlated with robust clinical response to gefitinib treatment in patients with non-small cell lung cancer. To investigate whether EGFR mutation is involved in the tumorigenesis of hepatocellular carcinoma (HCC), we performed direct sequencing of exons 18-21 on 89 HCCs. No mutations causing amino acid changes or deletions were identified. The results indicate mutation of the kinase domain of EGFR does not play a significant role in the tumorigenesis of HCC and gefitinib is unlikely to be used as single-drug therapy for HCC.
Insights
Epidermal growth factor receptor (EGFR) mutations are key in some cancers. This study found no significant EGFR mutations in hepatocellular carcinoma (HCC), suggesting gefitinib is not a viable single therapy for HCC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Epidermal growth factor receptor (EGFR) overexpression is common in epithelial tumors.
- EGFR inhibitors show promise in cancer therapy, particularly gefitinib for non-small cell lung cancer.
- Somatic mutations in EGFR exons 18-21 correlate with gefitinib response in lung cancer.
Purpose of the Study:
- To investigate the role of EGFR mutations in hepatocellular carcinoma (HCC) tumorigenesis.
- To determine if EGFR kinase domain mutations are present in HCC.
- To assess the potential of gefitinib as a single-drug therapy for HCC.
Main Methods:
- Direct sequencing of exons 18-21 of the EGFR gene.
- Analysis of 89 hepatocellular carcinoma (HCC) samples.
Main Results:
- No mutations leading to amino acid changes or deletions in EGFR exons 18-21 were identified in the HCC samples.
- The kinase domain of EGFR does not appear to be significantly mutated in HCC tumorigenesis.
Conclusions:
- EGFR kinase domain mutations do not play a significant role in the development of HCC.
- Gefitinib is unlikely to be effective as a standalone treatment for HCC based on these findings.
