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Adenocarcinoma Harboring EGFR-RAD51 Fusion Treated With Osimertinib: A Case Report
Sunny Y Lai1, Noah H Richardson1, Mya Tran1
1Division of Hematology/Oncology, Department of Medicine, Indiana University, Indianapolis, Indiana.
Abstract:
EGFR mutations are among the most common driver mutations in lung adenocarcinoma. Rare alterations, such as the EGFR-RAD51 fusion, respond to treatment with EGFR tyrosine kinase inhibitors but can be missed by limited genomic sequencing panels. Here, we report a case of metastatic lung adenocarcinoma in a never-smoker patient who initially did not have a targetable alteration identified on two different sequencing panels. The initial response to combination chemoimmunotherapy was short-lived. A rare EGFR-RAD51 fusion was then identified using a more in-depth sequencing panel. The patient experienced a dramatic and durable response to osimertinib. This case highlights the rarity of EGFR-RAD51 fusions, the efficacy of EGFR tyrosine kinase inhibitors, and the importance of a thorough search for targetable alterations in never-smokers with lung adenocarcinoma.
Insights
Rare EGFR-RAD51 fusions in lung adenocarcinoma can be missed by standard genomic tests. In-depth sequencing identified this fusion, leading to a durable response to EGFR tyrosine kinase inhibitors.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Epidermal growth factor receptor (EGFR) mutations are common drivers in lung adenocarcinoma.
- Targeted therapies like EGFR tyrosine kinase inhibitors (TKIs) show efficacy against specific EGFR alterations.
- Limited genomic sequencing panels may fail to detect rare fusion events.
Observation:
- A never-smoker patient with metastatic lung adenocarcinoma initially lacked identifiable targetable alterations on two sequencing panels.
- The patient had a limited response to initial chemoimmunotherapy.
- A subsequent, more comprehensive genomic analysis revealed a rare EGFR-RAD51 fusion.
Findings:
- The EGFR-RAD51 fusion, though rare, is a targetable alteration in lung adenocarcinoma.
- Osimertinib, an EGFR TKI, induced a dramatic and durable response in the patient with the EGFR-RAD51 fusion.
- In-depth genomic sequencing is crucial for identifying rare driver mutations.
Implications:
- This case underscores the clinical significance of identifying rare EGFR alterations, such as EGFR-RAD51 fusions.
- Comprehensive genomic profiling is essential for optimizing treatment strategies in lung adenocarcinoma, particularly in never-smokers.
- EGFR TKIs represent a vital therapeutic option for patients with specific EGFR fusions.
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