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An epidermal growth factor receptor exon 19 mutation in a mucin-producing gastric cancer sample from a Chinese
Weipeng Lu1, Mei Li2, Hai Wang3
1Laboratory Center, The Second Affiliated Hospital of Dalian Medical University, Dalian Department of Pathology, Affiliated Zhongshan Hospital of Dalian University, Dalian.
Objective:
To determine whether a subgroup of gastric cancer patients might benefit from epidermal growth factor receptor-tyrosine kinase inhibitors.
Methods:
A total of 103 gastric cancer samples were collected for this study. High-resolution melting and deoxyribonucleic acid sequencing were used to detect epidermal growth factor receptor mutations in exons 19 and 21.
Results:
Polymerase chain reaction-high-resolution melting was successfully performed on all 103 samples. Aberrant melting curves were found in only one sample. Sanger sequencing revealed a 15 bp deletion (c.2235_2249del; p.Glu746_Ala750del) in epidermal growth factor receptor exon 19. The sample was from a male patient, and the pathological diagnosis was a mucin-producing gastric cancer with lymph node metastasis. To date, this is the first report on epidermal growth factor receptor exon 19 mutation in gastric cancer.
Conclusions:
An epidermal growth factor receptor mutation in exon 19 was identified in mucin-producing gastric cancer sample from a male patient. This mutation indicates that the small subgroup of patients with mucin-producing gastric cancer might benefit from epidermal growth factor receptor-tyrosine kinase inhibitors.
Insights
A rare epidermal growth factor receptor (EGFR) exon 19 mutation was found in a gastric cancer patient. This discovery suggests certain mucin-producing gastric cancers may respond to EGFR-tyrosine kinase inhibitors.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Gastric cancer is a significant global health concern.
- Epidermal growth factor receptor (EGFR) mutations are key targets in some cancers.
- Identifying specific mutations can guide personalized treatment strategies.
Purpose of the Study:
- To investigate the presence of EGFR mutations in gastric cancer patients.
- To determine if a specific subgroup of gastric cancer patients could benefit from EGFR-tyrosine kinase inhibitors.
Main Methods:
- Analysis of 103 gastric cancer samples.
- Utilizing high-resolution melting and DNA sequencing to detect EGFR mutations in exons 19 and 21.
Main Results:
- Successfully analyzed all 103 samples using PCR-high-resolution melting.
- Identified a 15 bp deletion (c.2235_2249del; p.Glu746_Ala750del) in EGFR exon 19 in one sample.
- This mutation was found in a male patient with mucin-producing gastric cancer and lymph node metastasis.
Conclusions:
- First report of an EGFR exon 19 mutation in gastric cancer.
- This specific mutation in mucin-producing gastric cancer suggests potential benefit from EGFR-tyrosine kinase inhibitors.
