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Updated: May 9, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
The first case of lung carcinosarcoma harboring in-frame deletions at exon19 in the EGFR gene
Gouji Toyokawa1, Mitsuhiro Takenoyama1, Kenichi Taguchi2
1Department of Thoracic Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka 811-1395, Japan.
Abstract:
Mutations of the epidermal growth factor receptor (EGFR) gene play a critical role in carcinogenesis of lung cancer, particularly adenocarcinoma. However, to the best of our knowledge, no mutations of the EGFR in patients with lung carcinosarcoma have been identified. We herein report the case of a 61-year-old female referred for a detailed examination of a left pulmonary mass shadow. Although bronchoscopy was performed, it failed to lead to a diagnosis, and video-assisted thoracoscopic surgery was therefore carried out to diagnose the tumor. The pathology revealed biphasic features consisting of both adenocarcinoma and chondrosarcoma. Intriguingly, both the adenocarcinoma and chondrosarcoma components were proven to harbor an exon19 deletion in the EGFR gene. Although carcinosarcoma is a rare malignancy of the lungs, genetic analyses of oncogenic drivers, such as the EGFR gene, should be conducted.
Insights
Epidermal growth factor receptor (EGFR) gene mutations are key in lung adenocarcinoma. This study identifies an exon 19 deletion in both adenocarcinoma and chondrosarcoma components of a rare lung carcinosarcoma.
Area of Science:
- Oncology
- Genetics
- Pulmonology
Background:
- Epidermal growth factor receptor (EGFR) mutations are established drivers in lung adenocarcinoma pathogenesis.
- EGFR mutations have not been previously reported in lung carcinosarcoma.
Observation:
- A 61-year-old female presented with a left pulmonary mass.
- Initial bronchoscopy was non-diagnostic; subsequent video-assisted thoracoscopic surgery revealed a biphasic tumor.
- Pathological analysis confirmed the presence of both adenocarcinoma and chondrosarcoma components.
Findings:
- Genetic analysis revealed a shared exon 19 deletion in the EGFR gene in both the adenocarcinoma and chondrosarcoma elements.
- This finding indicates a potential common clonal origin or shared oncogenic pathway in this rare lung malignancy.
Implications:
- This case highlights the importance of comprehensive genetic profiling in rare lung cancers like carcinosarcoma.
- Identifying EGFR mutations in both components suggests targeted therapy might be beneficial for lung carcinosarcoma.
- Further research into oncogenic drivers in lung carcinosarcoma is warranted.
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