Abstract
Leptomeningeal disease (LMD) is a devastating category of CNS metastasis with a very poor prognosis and limited treatment options. With maximal aggressive therapy, survival times remain short and, without treatment, prognosis is measured in weeks. Both LMD diagnosis and treatment are challenging topics within neuro-oncology. In this review, we discuss the advances in LMD diagnosis with a focus on the role of circulating tumor DNA (ctDNA) and discuss the role of targeted and immunotherapy in LMD treatment.
Highlights
Leptomeningeal disease (LMD) is a dire category of central nervous system (CNS) metastasis that entails tumor cell dissemination to the cerebrospinal fluid (CSF) and/or leptomeninges and often results in significant neurological morbidity
In patients with nonsmall cell lung cancer (NSCLC), those harboring an epidermal growth factor receptor (EGFR) mutation have a higher risk of LMD; 9.4% in EGFR-mutant tumors versus 1.7% in wildtype tumors in a retrospective analysis of patients with NSCLC LMD [9]
The diagnosis of LMD is currently based on neurological symptoms, contrast-enhanced magnetic resonance imaging (MRI) or computed tomography (CT) imaging characteristics and CSF cytopathology analysis
Summary
Leptomeningeal disease (LMD) is a dire category of central nervous system (CNS) metastasis that entails tumor cell dissemination to the cerebrospinal fluid (CSF) and/or leptomeninges and often results in significant neurological morbidity. It occurs in approximately 5-15% of patients with solid tumors, and the incidence is rising [1,2,3,4,5,6,7,8]. Tumor subtype, HER2 (human epidermal growth factor receptor 2) status has been described to impact LMD propensity and outcome [10, 11]. In this review we will discuss advances in the diagnosis and treatment of LMD with a focus on targeted and immunotherapy
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