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Updated: Jan 7, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
A rare case of lung adenocarcinoma with uncommon epidermal growth factor receptor gene double mutations: S768I +
Deepti Mishra1, Akhilesh Krishna1, Pramod K Gupta2
1Department of Pathology and Cancer Genetics, Kalyan Singh Super Specialty Cancer Institute, Lucknow, Uttar Pradesh, India.
Abstract:
EGFR gene mutations are the second most common oncogenic driver of tumorigenesis in non-small cell lung cancer (NSCLC). Exon 19 deletions and L858R point mutation are strong predictors of response to TKIs, whereas rare EGFR mutations are generally associated with suboptimal TKIs response. Notably, rare mutations G719X and S768I can co-exist as complex mutations within the same tumor. In this context, we report a case of a 55-year-old female patient with left lower lobe lung adenocarcinoma along with metastases in the liver, skull, and bony pelvis. Histopathological examination of the right iliac bone confirmed the moderately differentiated metastatic adenocarcinoma. Findings of this report present the rare EGFR double mutations (G719X + S768I), along with concurrent ROS1positivity, which can directly affect treatment choices. There is ongoing debate about the optimal choice of TKI for the rare EGFR mutations, but earlier reports indicate that these mutations may respond more favorably to second-generation TKIs compared to first-generation. This report underscores the significance of thorough molecular profiling in NSCLC.
Insights
This case report highlights rare EGFR double mutations (G719X + S768I) and ROS1 positivity in non-small cell lung cancer (NSCLC). Thorough molecular profiling is crucial for guiding optimal tyrosine kinase inhibitor (TKI) treatment choices.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Epidermal Growth Factor Receptor (EGFR) mutations drive non-small cell lung cancer (NSCLC).
- Exon 19 deletions and L858R mutations predict tyrosine kinase inhibitor (TKI) response.
- Rare EGFR mutations often show suboptimal TKI response, but G719X and S768I can co-occur.
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