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Published on: September 20, 2016
Mapping EGFR1 mutations in patients with lung adenocarcinoma
Fotis Vlastos1, Julie Zinszner, Thomas Hussenet
1Centre of Respiratory Insufficiency, Athens Chest Diseases Hospital Sotiria, Greece.
Introduction:
Unselected lung cancer patients seem unable to gain in terms of survival from treatment with epidermal growth factor receptor (EGFR) inhibitors. Screening for specific molecular targets involves detection of EGFR1 mutations. The aim of our study was to develop a simple set of tests to detect mutations at the tyrosine kinase domain of the EGFR1 gene while avoiding expensive DNA sequencing to select patients eligible for treatment.
Methods:
DNA samples from 85 adenocarcinoma patients were analyzed. The cohort consisted of 65 female (40 nonsmokers and 25 smokers) and 20 male patients [15 smokers and 5 diagnosed with bronchioloalveolar carcinomas (BAC)]. Different restriction enzymes were identified that recognize mutations at the EGFR1's tyrosine kinase domain. Biocomputing and polymerase chain reaction were used to develop molecular screening tools.
Results:
Eight mutations were found in 7 patients, of which 5 were female nonsmokers (14.3%), 1 was a male nonsmoker, and 1 a male smoker. Among the mutations that were discovered, 5 (71%) were found at exon 19 and 3 (29%) at exon 20. At exon 19, 4 were deletions found in nonsmoker women, whereas the fifth was a deletion-insertion found in a nonsmoker male patient with BAC. At exon 20, 3 mutations were identified in 2 patients: a duplication (in a nonsmoker woman) and 2 substitutions (in a smoker male with BAC). No mutations were found at exons 18 and 21. Gene copy number was increased in 6 patients (4 female and 2 male) with the highest being found in a smoking female patient diagnosed with BAC.
Conclusion:
Mapping of EGFR1 mutations by alternative methods should be used in the screening of patients with non-small cell lung cancer who are candidates for EGFR inhibitor treatment. Patients with an increased EGFR1 copy number could benefit from the monoclonal antibody therapy.
Insights
This study developed a simple screening method to detect epidermal growth factor receptor 1 (EGFR1) mutations in lung cancer patients. This approach helps identify patients who may benefit from EGFR inhibitor therapy.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Epidermal growth factor receptor (EGFR) inhibitors improve survival in selected lung cancer patients.
- Screening for specific molecular targets, such as EGFR1 mutations, is crucial for patient selection.
- Current methods like DNA sequencing can be expensive, necessitating simpler screening tools.
Purpose of the Study:
- To develop a cost-effective screening method for epidermal growth factor receptor 1 (EGFR1) mutations.
- To identify patients eligible for EGFR inhibitor treatment without relying solely on DNA sequencing.
- To analyze the prevalence and types of EGFR1 mutations in lung adenocarcinoma.
Main Methods:
- DNA samples from 85 lung adenocarcinoma patients were analyzed.
- Restriction enzymes were identified to recognize mutations in the EGFR1 tyrosine kinase domain.
- Biocomputing and polymerase chain reaction (PCR) were employed to create molecular screening tools.
Main Results:
- Eight EGFR1 mutations were detected in 7 patients, primarily in female non-smokers.
- Mutations were predominantly found in exon 19 (deletions) and exon 20 (duplication, substitutions).
- Increased EGFR1 gene copy number was observed in 6 patients, particularly in those with bronchioloalveolar carcinoma (BAC).
Conclusions:
- Alternative methods for mapping EGFR1 mutations are recommended for screening non-small cell lung cancer patients.
- Patients with increased EGFR1 copy number may benefit from monoclonal antibody therapy.
- The developed screening tools offer a simpler approach to identify patients for targeted lung cancer treatment.
