一例携带 MAMLD1::BEND2 融合基因的播散性脊柱星形母细胞瘤。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-08-01 Epub Date: 2023-12-21 DOI:10.1111/neup.12960
Erin N Walker, Maxwell T Laws, Francesca Cozzi, Martha Quezado, Desmond A Brown, Eric C Burton
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引用次数: 0

摘要

星形母细胞瘤(MN1-altered)是一种罕见的中枢神经系统(CNS)肿瘤。这种恶性肿瘤与其他中枢神经系统肿瘤(包括上皮瘤)具有相似的组织病理学特征,因此诊断难度很大。DNA甲基化分析是一种新的、强大的技术,可用于克服这一诊断障碍。我们报告了一例现年 25 岁的女性病例,她在两岁时被诊断为颈椎上皮瘤。在最初的切除术后,肿瘤多次复发,并在确诊后的两年内扩散到整个大脑和脊髓。目前,她已接受了二十多年的治疗,包括多次手术切除、放射治疗和多种化疗药物的应用。2021 年,患者因腰骶部病变扩大而出现腰骶神经根症状来我院就诊。通过基因组 DNA 甲基化分析对患者肿瘤的福尔马林固定石蜡包埋材料进行复查后,诊断结果从 III 级无弹性上皮瘤转变为星形母细胞瘤,MN1 改变。这项研究为日益增多的文献提供了又一例星形母细胞瘤(MN1-altered)确诊病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of disseminated spinal astroblastoma harboring a MAMLD1::BEND2 fusion.

Astroblastoma, MN1-altered, is a rare neoplasm of the central nervous system (CNS). This malignancy shares similar histopathological features with other CNS tumors, including ependymomas, making it challenging to diagnose. DNA methylation profiling is a new and robust technique that may be used to overcome this diagnostic hurdle. We report the case of a now 25-year-old female diagnosed with what was initially called an ependymoma located in the cervical spine at the age of 2 years old. After initial resection, the tumor recurred multiple times and within 2 years of diagnosis had disseminated disease throughout the brain and spinal cord. She has now undergone over two decades of treatment, including multiple surgical resections, radiation therapy, and administration of numerous chemotherapeutic agents. In 2021, the patient presented to our institution with lumbosacral radicular symptoms due to enlarging lesions within the lumbosacral spine. Reexamination of formalin-fixed, paraffin-embedded material from the patient's tumor using genomic DNA methylation profiling resulted in a diagnostic change from grade III anaplastic ependymoma to astroblastoma, MN1-altered. This work describes another confirmed case of astroblastoma, MN1-altered, to the growing body of literature.

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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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