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Concurrent EGFR mutation and SMARCA4 deficiency in non-small cell lung cancer: A case report and literature review
Weiping Dai1, Taidong Li2, Yujiao Li1
1Department of Pathology, Central Hospital of Guangdong Provincial Nongken, Zhanjiang, Guangdong Province, China.
Rationale:
SMARCA4-deficient non-small cell lung cancer (NSCLC) represents a highly aggressive subtype with poor prognosis. While clinical studies have identified common co-mutations in TP53, LRP1B, STK11, KEAP1, and KRAS, actionable driver mutations such as EGFR or ALK are rarely reported in conjunction with SMARCA4 deficiency. This case presents a rare instance of NSCLC featuring both an EGFR exon 21 L858R mutation and SMARCA4 deficiency, highlighting the challenges in treatment and the need for novel therapeutic strategies.
Patient Concerns:
A 79-year-old female patient presented with concerns of a lung mass, suspected to be peripheral lung cancer based on diagnostic imaging.
Diagnoses:
Histopathological evaluation confirmed SMARCA4-deficient NSCLC. Molecular genetic analysis further revealed an EGFR exon 21 L858R mutation.
Interventions:
The patient was initially treated with osimertinib, an EGFR tyrosine kinase inhibitor. Upon disease progression, treatment was adjusted to include anlotinib in combination with ongoing osimertinib.
Outcomes:
The initial treatment with osimertinib led to partial remission. However, disease progression necessitated a change in therapy. The combination treatment stabilized the disease temporarily, achieving a stable disease status.
Lessons:
This case underscores the transient efficacy of targeted therapy in SMARCA4-deficient NSCLC with concurrent EGFR mutations. It highlights the need for continuous therapeutic adjustments and emphasizes the importance of further research into effective strategies for treating this complex and challenging subset of NSCLC, as current modalities have limitations in sustained efficacy.
Insights
This case study examines a rare instance of SMARCA4-deficient non-small cell lung cancer (NSCLC) with an EGFR mutation. Targeted therapies showed initial promise but ultimately had limited long-term efficacy, necessitating further research.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- SMARCA4-deficient non-small cell lung cancer (NSCLC) is an aggressive subtype with poor prognosis.
- Co-mutations are common, but actionable driver mutations like EGFR are rarely reported with SMARCA4 deficiency.
Purpose of the Study:
- To report a rare case of NSCLC with both SMARCA4 deficiency and an EGFR exon 21 L858R mutation.
- To highlight treatment challenges and the need for novel therapeutic strategies.
Main Methods:
- A patient with suspected peripheral lung cancer underwent histopathological and molecular genetic analysis.
- The analysis confirmed SMARCA4-deficient NSCLC and an EGFR exon 21 L858R mutation.
- Treatment involved initial osimertinib, followed by anlotinib combined with osimertinib upon progression.
Main Results:
- Initial treatment with osimertinib resulted in partial remission.
- Subsequent combination therapy with anlotinib and osimertinib achieved temporary disease stabilization.
- Disease progression occurred despite combination therapy, indicating transient efficacy.
Conclusions:
- This case highlights the limited sustained efficacy of targeted therapy in SMARCA4-deficient NSCLC with concurrent EGFR mutations.
- Continuous therapeutic adjustments are crucial for managing this challenging NSCLC subset.
- Further research is essential to develop more effective treatment strategies.
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