ArticleAnnals of medicine and surgery (2012)2026
Lung squamous cell carcinoma with germline EGFR P848L mutation: a case report.
Article in Annals of medicine and surgery (2012), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Germline epidermal growth factor receptor (EGFR) mutations have been increasingly recognized as genetic risk factors for non-small cell lung cancer (NSCLC), with T790M, V843I, and R776H constituting the mostly reported variants. The germline EGFR p848L mutation (c.2543C>T, p.Pro848Leu), initially identified by de Gunst Case presentation: We presented a case of a 57-year-old male with a family history of lung cancer. Diagnostic workup revealed squamous cell carcinoma in the right upper lobe. Genetic profiling identified a germline EGFR P848L mutation (c.2543C>T, p.Pro848Leu) through next-generation sequencing. First-line chemotherapy with nab-paclitaxel/carboplatin failed to achieve disease control. According to the RECIST 1.1 guidelines, the therapeutic effect after immunotherapy was determined to be stable disease. Conclusions: This case highlights the clinical challenges and therapeutic implications of germline EGFR P848L mutation in lung squamous cell carcinoma. Immunotherapy demonstrated promising efficacy, suggesting potential value in this rare genetic subset. Further studies are warranted to elucidate the oncogenic role of P848L and optimize treatment strategies for patients with this germline alteration.
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