Sener Ugur, Kumthekar Priya, Boire Adrienne
Department of Neurology, West Virginia University School of Medicine, Morgantown, West Virginia, USA.
Department of Neurology, Malnati Brain Tumor Institute at the Robert H. Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Neurooncol Adv. 2021 Nov 27;3(Suppl 5):v86-v95. doi: 10.1093/noajnl/vdab108. eCollection 2021 Nov.
Leptomeningeal metastasis (LM) is a devastating complication of cancer with variable clinical presentation and limited benefit from existing treatment options. In this review, we discuss advances in LM diagnostics and therapeutics with the potential to reverse this grim course. Emerging cerebrospinal fluid circulating tumor cell and cell-free tumor DNA analysis technologies will improve diagnosis of LM, while providing crucial genetic information, capturing tumor heterogeneity, and quantifying disease burden. Circulating tumor cells and cell-free tumor DNA have utility as biomarkers to track disease progression and treatment response. Treatment options for LM include ventriculoperitoneal shunting for symptomatic relief, radiation therapy including whole-brain radiation and focal radiation for bulky leptomeningeal involvement, and systemic and intrathecal medical therapies, including targeted and immunotherapies based on tumor mutational profiling. While existing treatments for LM have limited efficacy, recent advances in liquid biopsy together with increasing availability of targeted treatments will lead to rational multimodal individualized treatments and improved patient outcomes.
软脑膜转移（LM）是癌症的一种毁灭性并发症，临床表现多样，现有治疗方案的获益有限。在本综述中，我们讨论了LM诊断和治疗方面的进展，这些进展有可能扭转这一严峻局面。新兴的脑脊液循环肿瘤细胞和游离肿瘤DNA分析技术将改善LM的诊断，同时提供关键的遗传信息，捕捉肿瘤异质性并量化疾病负担。循环肿瘤细胞和游离肿瘤DNA可用作生物标志物来追踪疾病进展和治疗反应。LM的治疗选择包括用于缓解症状的脑室腹腔分流术、包括全脑放疗和针对大块软脑膜受累的局部放疗在内的放射治疗，以及全身和鞘内药物治疗，包括基于肿瘤突变谱的靶向治疗和免疫治疗。虽然现有的LM治疗方法疗效有限，但液体活检的最新进展以及靶向治疗可用性的增加将带来合理的多模式个体化治疗并改善患者预后。
