Non small cell lung cancer with SMARCA4 deficiency harboring rare EGFR mutations exhibited significant tumor response when treated with afatinib: a case report

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• SMARCA4-deficient non-small cell lung cancer (SMARCA4-dNSCLC) is aggressive with poor outcomes.
• SMARCA4 loss in NSCLC often associates with KRAS, KEAP1, STK11 mutations, not typically EGFR, ALK, or ROS1.
• Identifying actionable mutations is crucial for SMARCA4-dNSCLC treatment.

Purpose of the Study:

• To report the first case of SMARCA4-dNSCLC with rare EGFR mutations.
• To evaluate the treatment response in this unique patient profile.
• To emphasize the role of EGFR mutations in guiding therapy for SMARCA4-dNSCLC.

Main Methods:

• Case report of a SMARCA4-dNSCLC patient.
• Comprehensive genomic profiling to identify mutations.
• Treatment with afatinib, an EGFR tyrosine kinase inhibitor.
• Monitoring of treatment response.

Main Results:

• The patient presented with SMARCA4-dNSCLC and concurrent rare EGFR mutations (S768I and G719X).
• Afatinib treatment resulted in a partial response lasting 17 months.
• This indicates potential efficacy of EGFR-targeted therapy in this context.

Conclusions:

• SMARCA4-dNSCLC can harbor uncommon EGFR mutations.
• EGFR mutations are important targets for precision therapy in SMARCA4-dNSCLC.
• This case underscores the need for thorough molecular profiling in NSCLC.