患有表皮生长因子受体 (EGFR) 突变的非小细胞肺癌患者中有 10% 存在不常见的变异。这些突变主要涉及肺腺癌，但在肺鳞状细胞癌（LSCC）中很少见。 2018年，美国食品和药物管理局批准阿法替尼用于这一特定患者群体。然而，关于阿法替尼治疗 EGFR 突变的 LSCC 的有效性的信息有限。该病例报告记录了一名 LSCC 患者的独特病例，该患者具有罕见的复合 EGFR 突变（G719C 和 S768I），并对阿法替尼治疗显示出显着反应，具有 10 个月的无进展生存期。新的 NTRK1 和 RET 基因突变可能在临床进展后对阿法替尼获得性耐药的发展中发挥潜在作用。该病例凸显了 LSCC 患者基因分析的重要性。尽管这些患者的 EGFR 突变阳性率较低，但在这些患者中寻找 EGFR 突变可能会拓宽他们的治疗选择。© 2024 作者。由爱思唯尔有限公司出版

Ten percent of non-small cell lung cancer patients with epidermal growth factor receptor (EGFR) mutations harbor uncommon variants. These mutations are mainly involved in lung adenocarcinomas but are rare in lung squamous cell carcinoma (LSCC). In 2018, the Food and Drug Administration-approved afatinib for this specific patient population. However, there is limited information regarding the effectiveness of afatinib for LSCC with EGFR mutations. This case report documented a unique case of a patient with LSCC, which had a rare compound EGFR mutation (G719C and S768I) and showed significant response to afatinib treatment, with 10 months of progression-free survival. New NTRK1 and RET gene mutations may play a potential role in the development of acquired resistance to afatinib following clinical progression. This case highlights the importance of genetic profiling in patients with LSCC. Although these patients have a low positive rate of EGFR mutations, searching for EGFR mutations in these patients might broaden their treatment options.© 2024 The Authors. Published by Elsevier Ltd.