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Updated: May 16, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
A case of lung adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene
Hisashi Tanaka1, Akihito Hayashi, Takeshi Morimoto
1Hirosaki University Graduate School of Medicine, Course of Medical Sciences, Cardiology, Respiratory Medicine and Nephrology, Zaifu-cho 5, Hirosaki 036-8562, Japan. xyghx335@gmail.com
Background:
Lung cancer is the leading cause of cancer-related death worldwide. Epidermal growth factor receptor (EGFR)--tyrosine kinase inhibitor (TKI) is used for the patients with EGFR-mutant lung cancer. Recently, phase III studies in the patients with EGFR-mutant demonstrated that EGFR-TKI monotherapy improved progression-free survival compared with platinum-doublet chemotherapy. The echinoderm microtubule-associated protein-like 4 (EML4)--anaplastic lymphoma kinase (ALK) fusion oncogene represents one of the newest molecular targets in non-small cell lung cancer (NSCLC). Patients who harbor EML4-ALK fusions have been associated with a lack of EGFR or KRAS mutations.
Case Presentation:
We report a 39-year-old patient diagnosed as adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene. We treated this patient with erlotinib as the third line therapy, but no clinical benefit was obtained.
Conclusion:
We experienced a rare case with EGFR mutation and EML4-ALK. Any clinical benefit using EGFR-TKI was not obtained in our case. The therapeutic choice for the patients with more than one driver mutations is unclear. We needs further understanding of the lung cancer molecular biology and the biomarker information.
Insights
A rare lung cancer case with both EGFR mutation and EML4-ALK fusion showed no benefit from EGFR-TKI therapy. Treatment strategies for patients with multiple driver mutations require further research.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Lung cancer is a leading cause of cancer death globally.
- Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are standard for EGFR-mutant lung cancer.
- Echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) fusions are emerging targets in non-small cell lung cancer (NSCLC).
Observation:
- A 39-year-old patient with adenocarcinoma was diagnosed with both EGFR mutation and EML4-ALK fusion.
- This patient received erlotinib as third-line therapy.
Findings:
- No clinical benefit was observed with erlotinib treatment in this patient.
- The presence of both EGFR mutation and EML4-ALK fusion is rare.
Implications:
- The optimal therapeutic strategy for lung cancer patients with multiple driver mutations remains unclear.
- Further research into lung cancer molecular biology and biomarker identification is needed.
- Understanding complex genomic profiles is crucial for personalized treatment approaches.
