Cao Wenli, Kou Furong, Hu Weiheng, Hu Li, Nie Jun, Dai Ling, Zhang Jie, Rui Jinqiu, Knetki-Wróblewska Magdalena, Antonoff Mara B, Fang Jian, Wang Yang
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Comprehensive Clinical Trial Ward, Peking University Cancer Hospital & Institute, Beijing, China.
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Thoracic Oncology II, Peking University Cancer Hospital & Institute, Beijing, China.
Transl Lung Cancer Res. 2025 Jul 31;14(7):2788-2798. doi: 10.21037/tlcr-2025-716. Epub 2025 Jul 28.
Immunotherapy has become the standard therapy for advanced non-small cell lung cancer (NSCLC), but its efficacy in patients with rare mutations remains unclear. This study aimed to evaluate the efficacy of first-line immunotherapy in NSCLC patients with rare mutations.
This study selected 2,107 advanced non-squamous NSCLC patients who underwent genetic testing between January 2016 and April 2024 at Peking University Cancer Hospital. Inclusion criteria were patients with rare mutations (including and ) who received first-line immunotherapy or targeted therapy. Mutation-negative patients receiving first-line immunotherapy were also included as a control group. The log-rank test was used to compare progression-free survival (PFS) and overall survival (OS) between different groups.
A total of 66 patients with rare mutations and 142 patients with negative mutations were included. Among them, 39 rare mutation patients and 142 mutation-negative patients received first-line immunotherapy, while 27 rare mutation patients received first-line targeted therapy. For patients receiving first-line immunotherapy, there was no significant difference between the rare mutation group and the mutation-negative group in median PFS (14.53 12.43 months, P=0.93) and median OS (34.40 32.37 months, P=0.51). Among rare mutation patients, median OS was superior with first-line immunotherapy compared to targeted therapy (34.40 16.37 months, P=0.008), but median PFS showed no difference (14.53 7.03 months, P=0.10).
Advanced non-squamous NSCLC patients with rare mutations may benefit from first-line immunotherapy.
免疫疗法已成为晚期非小细胞肺癌（NSCLC）的标准疗法，但其在罕见突变患者中的疗效仍不明确。本研究旨在评估一线免疫疗法在具有罕见突变的NSCLC患者中的疗效。
本研究选取了2016年1月至2024年4月期间在北京大学肿瘤医院接受基因检测的2107例晚期非鳞状NSCLC患者。纳入标准为接受一线免疫疗法或靶向疗法的罕见突变患者（包括 和 ）。接受一线免疫疗法的野生型患者也被纳入作为对照组。采用对数秩检验比较不同组之间的无进展生存期（PFS）和总生存期（OS）。
共纳入66例罕见突变患者和142例野生型患者。其中，39例罕见突变患者和142例野生型患者接受一线免疫疗法，27例罕见突变患者接受一线靶向疗法。对于接受一线免疫疗法的患者，罕见突变组和野生型组之间的中位PFS（14.53对12.43个月，P = 0.93）和中位OS（34.40对32.37个月，P = 0.51）无显著差异。在罕见突变患者中，与靶向疗法相比，一线免疫疗法的中位OS更优（34.40对16.37个月，P = 0.008），但中位PFS无差异（14.53对7.03个月，P = 0.10）。
具有罕见突变的晚期非鳞状NSCLC患者可能从一线免疫疗法中获益。
