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Updated: Oct 19, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Two cases of non-small cell lung cancer patients with somatic or germline EGFR R776H mutation
Tianxing Guo1, Lihuan Zhu1, Wujin Li1
1Department of Thoracic Surgery, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian Province, 350001.
Abstract:
The development of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) has revolutionized the treatment for non-small cell lung cancer (NSCLC). Comprehensive genomic profiling for NSCLC enables clinicians to identify more uncommon genetic alterations in EGFR. It remains unclear whether patients with certain rare EGFR mutations can benefit from EGFR inhibitors. On the other hand, emerging evidence has also showed the involvement of inherited factors in lung cancer development. However, only few germline EGFR mutations have been reported, and their association with NSCLC familial risk remains ambiguous. Here, we report two cases of NSCLCs with uncommon EGFR mutation R776H. One patient carrying somatic EGFR R776H and L861Q was treated with afatinib and achieved a durable response. The other patient harbored a germline EGFR R776H and her son inherited the same germline R776H mutation whose CT examination showed multiple ground-glass nodules in both lungs requiring further follow-up and diagnosis. Our study demonstrated the responsiveness of compound R776H-L861Q mutations to afatinib. We also revealed the transmission of EGFR R776H and suggested it may confer the high susceptibility to lung cancer.
Insights
This study highlights that uncommon EGFR mutations in non-small cell lung cancer (NSCLC) can respond to targeted therapies like afatinib. It also reveals a rare inherited EGFR mutation potentially increasing lung cancer susceptibility.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) have transformed non-small cell lung cancer (NSCLC) treatment.
- Comprehensive genomic profiling identifies rare EGFR mutations, but their clinical significance and hereditary aspects are not fully understood.
Observation:
- Two NSCLC cases with uncommon EGFR R776H mutations were analyzed.
- One patient with somatic EGFR R776H and L861Q mutations responded well to afatinib.
- Another patient with germline EGFR R776H passed it to her son, who showed lung abnormalities.
Findings:
- The compound EGFR R776H-L861Q mutation demonstrated sensitivity to afatinib treatment.
- The study identified germline EGFR R776H transmission, suggesting a potential hereditary predisposition to lung cancer.
Implications:
- This research expands the understanding of rare EGFR mutations in NSCLC treatment and diagnosis.
- The findings suggest a possible link between inherited EGFR R776H mutations and familial lung cancer risk, warranting further investigation.
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