Xie Yuwen, Fang Hehui, Cheng Wanwan, Xu Ting, Xu Shu, Yu Chuanyong, Liu Yong, Fang Shencun
Brain Metastases Diagnosis and Treatment Centre, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.
Department of Respiratory Medicine, Nanjing Chest Hospital, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.
Int J Cancer. 2025 Sep 1;157(5):954-963. doi: 10.1002/ijc.35460. Epub 2025 Apr 29.
Uncommon EGFR mutations constitute 10%-20% of all EGFR mutations in non-small cell lung cancer (NSCLC), forming a molecularly distinct and clinically heterogeneous subgroup. This retrospective cohort study evaluated the efficacy and safety of furmonertinib in managing central nervous system (CNS) metastases among NSCLC patients with uncommon EGFR mutations (excluding exon 20 insertion variants). Thirty-one eligible patients treated at the Affiliated Brain Hospital of Nanjing Medical University between March 2022 and August 2024 were enrolled. Serial cerebrospinal fluid (CSF) samples were subjected to next-generation sequencing for circulating tumor DNA (ctDNA) profiling. Clinical endpoints included CNS objective response rate (ORR), disease control rate (DCR), intracranial progression-free survival (iPFS), overall survival (OS), and safety parameters. The cohort demonstrated a CNS ORR of 38.7% (95% CI, 21.8%-57.8%) and DCR of 64.5% (95% CI, 45.4%-80.8%), with a median iPFS of 6.97 months. Median OS remained immature at data cutoff. A total of 21 patients with leptomeningeal metastases had baseline EGFR-mutant ctDNA detected in their CSF, with ctDNA analysis indicating intracranial responses corresponded to decreased or cleared ctDNA abundance. Longitudinal CSF ctDNA monitoring in a representative case demonstrated significant temporal correlation between molecular response and radiographic/clinical improvement. The safety profile was favorable, with no grade ≥4 adverse events or treatment-related mortality. These findings suggest that furmonertinib provides clinically meaningful CNS activity with acceptable toxicity in uncommon EGFR-mutant NSCLC, particularly when integrated with CSF ctDNA dynamics as a potential pharmacodynamic biomarker. This study highlights the therapeutic implications of third-generation EGFR-TKIs in molecularly defined NSCLC subpopulations.
罕见的表皮生长因子受体(EGFR)突变占非小细胞肺癌(NSCLC)所有EGFR突变的10%-20%,构成一个分子特征独特且临床异质性的亚组。这项回顾性队列研究评估了伏美替尼治疗具有罕见EGFR突变(不包括外显子20插入变体)的NSCLC患者中枢神经系统(CNS)转移的疗效和安全性。2022年3月至2024年8月期间在南京医科大学附属脑科医院接受治疗的31例符合条件的患者入组。对连续的脑脊液(CSF)样本进行二代测序以分析循环肿瘤DNA(ctDNA)特征。临床终点包括CNS客观缓解率(ORR)、疾病控制率(DCR)、颅内无进展生存期(iPFS)、总生存期(OS)和安全性参数。该队列的CNS ORR为38.7%(95%CI,21.8%-57.8%),DCR为64.5%(95%CI,45.4%-80.8%),中位iPFS为6.97个月。在数据截止时,中位OS仍未成熟。共有21例软脑膜转移患者的CSF中检测到基线EGFR突变ctDNA,ctDNA分析表明颅内反应与ctDNA丰度降低或清除相对应。在一个代表性病例中进行的纵向CSF ctDNA监测显示分子反应与影像学/临床改善之间存在显著的时间相关性。安全性良好,无≥4级不良事件或治疗相关死亡。这些发现表明,伏美替尼在罕见EGFR突变的NSCLC中提供了具有临床意义的CNS活性且毒性可接受,特别是当与CSF ctDNA动态变化相结合作为潜在的药效学生物标志物时。本研究强调了第三代EGFR酪氨酸激酶抑制剂在分子定义的NSCLC亚群中的治疗意义。