Primary diffuse leptomeningeal glioblastoma: a case report and literature review.

IF 3.1 2区医学 Q2 CLINICAL NEUROLOGY Journal of Neuro-Oncology Pub Date : 2025-03-01 Epub Date: 2024-12-12 DOI:10.1007/s11060-024-04908-8

Mark Willy L Mondia, Rebekka E Hooks, Georgios A Maragkos, Vanessa L Smith, Matthew R McCord, Joseph H Donahue, Eli S Williams, M Beatriz Lopes, David Schiff, Ashok R Asthagiri

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Abstract

Purpose: Glioblastoma (GBM) that presents as leptomeningeal disease (LMD) is extremely rare and fatal. Limited data are available regarding incidence, clinical presentation, and management. Prognosis is poor and no treatment is known to improve survival.

Methods and results: We present a case report of a 72-year-old female who presented with depressed sensorium, ataxia, and myelopathy. Magnetic resonance imaging (MRI) showed diffuse supratentorial and spinal LMD. There was an absence of any detectable and distinct intraparenchymal lesion on neuroaxis imaging. Biopsy of the Sylvian fissure nodule revealed GBM. Steroid therapy was ineffective for symptom relief. She opted for palliative care and expired shortly after diagnosis.

Conclusion: To our knowledge, this is the first reported case of GBM presenting exclusively as LMD without a primary lesion. If systemic imaging techniques do not provide a biopsy target and cerebrospinal fluid (CSF) studies are non-diagnostic, tissue diagnosis from leptomeningeal biopsy is recommended. Palliative chemoradiation or best supportive care are reasonable treatment options.

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原发性弥漫性脑膜胶质母细胞瘤1例并文献复习。

目的：胶质母细胞瘤（GBM）表现为轻脑膜病（LMD）是一种极其罕见和致命的疾病。关于发病率、临床表现和治疗的资料有限。预后很差，没有任何治疗方法可以提高生存率。方法和结果：我们报告了一位72岁的女性，她表现为感觉障碍、共济失调和脊髓病。MRI显示弥漫性幕上及脊柱LMD。神经轴造影未见明显的实质内病变。Sylvian裂隙结节活检显示为GBM。类固醇治疗对缓解症状无效。她选择了姑息治疗，在确诊后不久就去世了。结论：据我们所知，这是第一例报道的GBM仅表现为LMD而没有原发病变的病例。如果系统成像技术不能提供活检目标，脑脊液（CSF）检查不能诊断，则建议通过小脑膜活检进行组织诊断。姑息放化疗或最佳支持治疗是合理的治疗选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neuro-Oncology 医学-临床神经学

CiteScore

6.60

自引率

7.70%

发文量

277

审稿时长

3.3 months

期刊介绍： The Journal of Neuro-Oncology is a multi-disciplinary journal encompassing basic, applied, and clinical investigations in all research areas as they relate to cancer and the central nervous system. It provides a single forum for communication among neurologists, neurosurgeons, radiotherapists, medical oncologists, neuropathologists, neurodiagnosticians, and laboratory-based oncologists conducting relevant research. The Journal of Neuro-Oncology does not seek to isolate the field, but rather to focus the efforts of many disciplines in one publication through a format which pulls together these diverse interests. More than any other field of oncology, cancer of the central nervous system requires multi-disciplinary approaches. To alleviate having to scan dozens of journals of cell biology, pathology, laboratory and clinical endeavours, JNO is a periodical in which current, high-quality, relevant research in all aspects of neuro-oncology may be found.