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Detection of EGFR- and HER2-activating mutations in squamous cell carcinoma involving the head and neck
Carlynn Willmore-Payne1, Joseph A Holden, Lester J Layfield
1Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA.
Abstract:
Recent reports have indicated that mutations in the epidermal growth factor receptor-1 (EGFR) occur in about 7% of patients with squamous cell carcinoma of the head and neck. It is known that many patients with non-small-cell lung cancer who respond to the EGFR inhibitors gefitinib and erlotinib have tumors with EGFR-activating mutations. This might suggest that patients with head and neck squamous carcinoma, who also have tumors with EGFR-activating mutations, might represent a patient population who could benefit from gefitinib or erlotinib therapy. High-resolution melting amplicon analysis (HRMAA) is a recently described technique which can be used for screening tumor DNA isolated from paraffin blocks for tyrosine kinase-activating mutations. In this report we screened 24 cases of squamous cell carcinoma, either primary in the head and neck or secondarily involving the head and neck area, for activating mutations in EGFR exons 18, 19, 20, 21, and for HER2 exons 19 and 20. All cases were followed up by direct DNA sequencing. Two (8%) of the 24 cases were positive. One case was a maxillary sinus tumor which contained an exon 20-activating mutation (N771YinsG). Surprisingly, the other case was a primary squamous cell carcinoma of the skin which invaded the head and neck area only secondarily. This tumor contained an exon 19-activating mutation (G729E). No HER2-activating mutations were found. The presence of a small number of squamous cell carcinomas in the head and neck area with EGFR-activating mutations suggests the existence of a population of patients who could derive benefit from gefitinib or erlotinib therapy. HRMAA could serve as a screening method to easily and rapidly identify these patients.
Insights
EGFR mutations are found in head and neck squamous cell carcinoma. High-resolution melting amplicon analysis identified activating mutations in 8% of cases, suggesting potential benefit from EGFR inhibitors like gefitinib or erlotinib.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Epidermal Growth Factor Receptor (EGFR) mutations are implicated in cancer development.
- EGFR inhibitors like gefitinib and erlotinib show efficacy in non-small-cell lung cancer with activating EGFR mutations.
- Head and neck squamous cell carcinoma (HNSCC) may harbor similar mutations, suggesting a potential therapeutic target.
Purpose of the Study:
- To investigate the prevalence of activating mutations in EGFR and HER2 in HNSCC.
- To evaluate the utility of High-Resolution Melting Amplicon Analysis (HRMAA) for screening these mutations.
- To identify HNSCC patients who might benefit from EGFR inhibitor therapy.
Main Methods:
- Screening of 24 HNSCC tumor DNA samples using HRMAA for EGFR exons 18-21 and HER2 exons 19-20.
- Confirmation of identified mutations by direct DNA sequencing.
- Analysis of tumor DNA isolated from paraffin-embedded blocks.
Main Results:
- Activating mutations in EGFR were detected in 2 out of 24 (8%) HNSCC cases.
- One maxillary sinus tumor had an exon 20 EGFR mutation (N771YinsG).
- A primary skin squamous cell carcinoma with secondary head and neck invasion showed an exon 19 EGFR mutation (G729E). No HER2 mutations were found.
Conclusions:
- A subset of HNSCC patients harbor EGFR-activating mutations, indicating potential sensitivity to EGFR inhibitors.
- HRMAA is an effective and rapid method for screening HNSCC for these mutations.
- These findings support the exploration of gefitinib or erlotinib therapy in HNSCC patients with identified EGFR mutations.
