Deng Ruoyu, Zhang Wen, Lv Jialing, Wang Fang, Chen Yanqiong, Jiang Chengqi, Guan Yaling, Zhang Chao
Department of Oncology, Qujing First People's Hospital/The Qujing Affiliated Hospital of Kunming Medical University, Qujing, 655000, China.
Department of Pathology, Second People's Hospital of Qujing City, Qujing, 655000, China.
Heliyon. 2024 Jul 26;10(15):e35304. doi: 10.1016/j.heliyon.2024.e35304. eCollection 2024 Aug 15.
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.
10%的表皮生长因子受体(EGFR)突变的非小细胞肺癌患者携带不常见的变异。这些突变主要见于肺腺癌,但在肺鳞状细胞癌(LSCC)中罕见。2018年,美国食品药品监督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的有效性信息有限。本病例报告记录了1例独特的LSCC患者,该患者有罕见的复合EGFR突变(G719C和S768I),对阿法替尼治疗显示出显著反应,无进展生存期达10个月。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生中起潜在作用。本病例突出了LSCC患者基因检测的重要性。虽然这些患者EGFR突变的阳性率较低,但在这些患者中寻找EGFR突变可能会拓宽他们的治疗选择。