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原发性弥漫性软脑膜胶质母细胞瘤:一例报告及文献综述

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

作者信息

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

机构信息

Division of Neuro-Oncology, Department of Neurology, University of Virginia, 1300, Jefferson Park Avenue West Complex Room 6225, Charlottesville, 22908, VA, USA.

Department of Neurosurgery, University of Virginia, Charlottesville, VA, USA.

出版信息

J Neurooncol. 2025 Mar;172(1):265-272. doi: 10.1007/s11060-024-04908-8. Epub 2024 Dec 12.

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.

摘要

目的

表现为柔脑膜疾病(LMD)的胶质母细胞瘤(GBM)极为罕见且致命。关于其发病率、临床表现及治疗的数据有限。预后较差,尚无已知治疗方法可提高生存率。

方法与结果

我们报告一例72岁女性病例,该患者出现意识模糊、共济失调和脊髓病。磁共振成像(MRI)显示幕上及脊髓弥漫性LMD。神经轴成像未发现任何可检测到的明显脑实质内病变。外侧裂结节活检显示为GBM。类固醇治疗对缓解症状无效。她选择了姑息治疗,诊断后不久死亡。

结论

据我们所知,这是首例仅表现为LMD而无原发灶的GBM报道病例。如果全身成像技术未提供活检靶点且脑脊液(CSF)检查无法确诊,建议进行柔脑膜活检以获取组织诊断。姑息性放化疗或最佳支持治疗是合理的治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cfa/11832630/25e56ccd00d6/11060_2024_4908_Fig1_HTML.jpg

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