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具有复杂表现的脑室外神经细胞瘤:分子研究与技术在其治疗中的作用

Extraventricular Neurocytoma With a Complex Presentation: The Role of Molecular Studies and Technology in Its Management.

作者信息

Valerio Jose, Zumaeta Jorge, Aguirre Vera Guillermo de Jesus, Mazon Pablo, Santiago Rea Noe, Alvarez-Pinzon Andres M

机构信息

Department of Neurosurgery, Neurosurgery Oncology Center of Excellence, Miami Neuroscience Center at Larkin, South Miami, USA.

Department of Neurosurgery, Neurosurgery Oncology Center of Excellence, Miami Neuroscience Center at Larkin, South Miami, PER.

出版信息

Cureus. 2025 Jun 17;17(6):e86229. doi: 10.7759/cureus.86229. eCollection 2025 Jun.

Abstract

Diagnosis and management of central nervous system tumors is challenging, especially when they have unusual presentation and require molecular analysis to confirm the pathology to offer the best treatment with the least risk of morbidity and mortality. This is a 34-year-old man who presented with a hemorrhagic lesion at the corpus callosum and intraventricular level that was initially classified as an ependymoma but was later redefined as a neurocytoma after molecular analysis. The patient had no significant medical history. The initial clinical picture was manifested with intense headache, nausea, and photophobia. Initial management consisted of placement of an external ventriculostomy for acute hydrocephalus. A biopsy of the lesion, aided by navigation, was performed. A ventriculoperitoneal shunt for persistent hydrocephalus was placed. After confirming the molecular diagnosis of neurocytoma, treatment with a gamma knife provided excellent results. The importance of this case centers around the fundamental role of molecular diagnosis in accurately classifying central nervous system (CNS) tumors, specifically in cases where histopathological analysis may be inconclusive, allowing for better directed management. Technology enables effective management of these complex lesions through minimally invasive treatment options like the gamma knife.

摘要

中枢神经系统肿瘤的诊断和管理具有挑战性,尤其是当它们表现不寻常且需要分子分析来确诊病理,以便在发病率和死亡率风险最小的情况下提供最佳治疗时。这是一名34岁男性,其胼胝体和脑室内出现出血性病变,最初被归类为室管膜瘤,但经分子分析后后来重新定义为神经细胞瘤。该患者无重大病史。最初的临床表现为剧烈头痛、恶心和畏光。初始治疗包括为急性脑积水放置外部脑室引流管。在导航辅助下对病变进行了活检。为持续性脑积水放置了脑室腹腔分流管。在确诊为神经细胞瘤后,伽玛刀治疗取得了极佳效果。该病例的重要性主要围绕分子诊断在准确分类中枢神经系统(CNS)肿瘤中的基本作用,特别是在组织病理学分析可能不明确的情况下,从而实现更有针对性的管理。技术通过伽玛刀等微创治疗方案实现对这些复杂病变的有效管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c41/12270190/fde8e6f9acf2/cureus-0017-00000086229-i01.jpg

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