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Case report: First report of metastatic esophageal squamous cell carcinoma with EGFR p.S768I mutation: remarkable response to third-generation EGFR-TKI

Year: 2025

Type: article

Abstract: We present a 59-year-old male with metastatic esophageal squamous cell carcinoma (ESCC) harboring an uncommon epidermal growth factor receptor (EGFR) exon 20 p.S768I mutation identified through liquid biopsy. Following progression on conventional therapies, the patient received the third-generation EGFR tyrosine kinase inhibitor (TKI), Firmonertinib. This treatment resulted in near-complete radiographic remission of primary esophageal lesions, mediastinal lymphadenopathy, pulmonary nodules, cerebral and hepatic metastases within six weeks, accompanied by rapid clinical improvement. This exceptional response underscores the clinical relevance of comprehensive molecular profiling in treatment-refractory ESCC and provides preliminary evidence supporting the therapeutic potential of EGFR-TKIs against rare EGFR mutations in advanced ESCC. This represents the first globally reported case of an ESCC patient with the rare EGFR p.S768I mutation who was successfully treated and achieved 4 months of near-complete response. Further validation in larger cohorts is needed to establish the efficacy of EGFR-TKIs in ESCC patients with rare EGFR mutations.

Source: npj Precision Oncology

DOI: 10.1038/s41698-025-01118-x

Authors: Ying Liu, Cheng Wu, Lin Wang, Wu Sun, Baorui Liu, Wei Ren

Institutions: Nanjing Drum Tower Hospital, Nanjing University

Language: English

Topic: Lung Cancer Treatments and Mutations

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,090