van der Wel J W Tijmen, Boelens Mirjam C, Jebbink Merel, Smulders Sietske A, Maas Klaartje W, Luitse Merel J A, Compter Annette, Boltjes Robin P B, Sol Nik, Monkhorst Kim, van den Broek Daan, Smit Egbert F, de Langen Adrianus J, Brandsma Dieta
Department of Thoracic Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Neuro Oncol. 2024 Dec 5;26(12):2316-2327. doi: 10.1093/neuonc/noae138.
Diagnosis and treatment of leptomeningeal metastases (LM) in epidermal growth factor receptor mutation-positive (EGFRm +) non-small-cell lung carcinoma (NSCLC) is challenging. We aimed to identify resistance mechanisms (RM) to osimertinib in cerebrospinal fluid (CSF) and plasma.
EGFRm + patients with new or progressive LM during osimertinib were enrolled. NGS Ampliseq was performed on DNA isolated from CSF. Patients were prescribed osimertinib dose escalation (DE, 160 mg QD) following lumbar puncture. Clinical and radiological response was evaluated 4 weeks after osimertinib DE.
Twenty-eight patients were included. The driver mutation was identified in 93% of CSF samples (n = 26). Seven (27%) harbored ≥1 RM. Twenty-five patients (89%) were prescribed osimertinib DE. Four weeks afterwards, symptoms improved in 5 patients, stabilized in 9 and worsened in 11 patients. Twenty-one (84%) patients underwent MR imaging. Four showed radiological improvement, 14 stabilization, and 3 worsening.
In 27% of patients, an RM was found in CSF ctDNA, none of which are targetable at the time of writing, and the clinical efficacy of osimertinib DE seems limited. There is much to gain in diagnostic as well as therapeutic strategies in EGFRm + NSCLC LM.
表皮生长因子受体突变阳性(EGFRm +)非小细胞肺癌(NSCLC)软脑膜转移(LM)的诊断和治疗具有挑战性。我们旨在确定脑脊液(CSF)和血浆中对奥希替尼的耐药机制(RM)。
纳入在奥希替尼治疗期间出现新的或进展性LM的EGFRm +患者。对从CSF中分离的DNA进行NGS Ampliseq检测。患者在腰椎穿刺后接受奥希替尼剂量递增(DE,160 mg每日一次)治疗。在奥希替尼DE治疗4周后评估临床和影像学反应。
纳入28例患者。93%(n = 26)的CSF样本中检测到驱动突变。7例(27%)存在≥1种耐药机制。25例(89%)患者接受了奥希替尼DE治疗。4周后,5例患者症状改善,9例稳定,11例恶化。21例(84%)患者接受了磁共振成像检查。4例显示影像学改善,14例稳定,3例恶化。
在27%的患者中,CSF循环肿瘤DNA(ctDNA)中发现了耐药机制,在撰写本文时均无法靶向,奥希替尼DE的临床疗效似乎有限。EGFRm + NSCLC LM的诊断和治疗策略有很大的改进空间。