Department of Translational Neurosciences, Pacific Neuroscience Institute/Saint John's Cancer Institute, 2200 Santa Monica Blvd, Santa Monica, CA, 90404, USA.
Department of Neurosurgery and Preston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, NC, USA.
Curr Neurol Neurosci Rep. 2022 Jul;22(7):413-425. doi: 10.1007/s11910-022-01198-3. Epub 2022 May 19.
Leptomeningeal disease (LMD) is a rare, late complication of systemic cancer and is associated with significant neurological morbidity and high mortality. Here we provide an overview of this condition, summarizing key recent research findings and clinical practice trends in its diagnosis and treatment. We also review current clinical trials for LMD.
Improved molecular diagnostic tools are in development to enable more sensitive detection of LMD, including circulating tumor cells and circulating tumor DNA. The use of targeted and CNS-penetrant therapeutics has shown survival improvements with tyrosine kinase inhibitors, antibody-drug conjugates, and select chemotherapy. However, these studies have primarily been phase I/II and retrospective analyses. There remains a dearth of clinical trials that include LMD patients. The combination of patient-specific molecular information and novel therapeutic approaches holds significant promise for improving outcomes in patients with LMD.
软脑膜疾病（LMD）是一种罕见的系统性癌症晚期并发症，与显著的神经功能障碍和高死亡率相关。本文概述了这种疾病，总结了其诊断和治疗方面的关键最新研究发现和临床实践趋势。我们还回顾了目前针对 LMD 的临床试验。
目前正在开发改进的分子诊断工具，以实现更敏感的 LMD 检测，包括循环肿瘤细胞和循环肿瘤 DNA。酪氨酸激酶抑制剂、抗体药物偶联物和特定化疗药物的靶向和 CNS 穿透性治疗已显示出生存改善。然而，这些研究主要是 I/II 期和回顾性分析。仍然缺乏包含 LMD 患者的临床试验。将患者特定的分子信息与新型治疗方法相结合，为改善 LMD 患者的预后带来了巨大希望。
