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MYB::QKI fusion-positive diffuse glioma of the cerebellum: A case report. 小脑弥漫性胶质瘤MYB::QKI融合阳性:病例报告。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-21 DOI: 10.1111/neup.13016
Kaishi Satomi, Takahiro Shibayama, Takashi Hibiya, Akimasa Hayashi, Kiyotaka Nagahama, Kenichiro Kato, Yukino Nikai, Yuko Matsushita, Miho Gomyo, Yuki Yamagishi, Nobuyoshi Sasaki, Kuniaki Saito, Keiichi Kobayashi, Anna Takeda, So Fujimoto, Takeshi Matsuo, Keisuke Takai, Takashi Komori, Kazuhiro Tsuchiya, Motoo Nagane, Koichi Ichimura, Junji Shibahara

Angiocentric glioma (AG) is a supratentorial diffuse low-grade glioma characterized by the MYB::QKI fusion gene, showing angiocentric growth of monomorphous spindle cells with astrocytic and ependymal immunophenotypes. We describe a rare case of MYB::QKI fusion-positive diffuse cerebellar glioma in a 54-year-old male. The patient initially presented with a T2/FLAIR hyperintense lesion in the left cerebellar hemisphere and slowly progressive neurological symptoms. Histopathological evaluation revealed a diffuse glioma characterized by spindle-shaped and small epithelioid cells with perivascular infiltration. Immunohistochemistry showed positivity for glial fibrillary acidic protein and only occasionally positive for Olig2. No dot- or ring-like epithelial membrane antigen immunoreactivity was observed. In this case, the proliferative activity was higher than that in typical AG cases, as manifested by multiple mitoses (four mitoses/slide) and a Ki-67 labeling index of 5%. The tumor cells were negative for IDH1 p.R132H and H3 p.K28M mutation-specific antibodies. Fluorescence in situ hybridization showed a MYB break-apart signal, and reverse transcription-polymerase chain reaction analysis confirmed an in-frame MYB (6q23.3, exon 11, NM_001161659.2)::QKI (6q26, exon 5, NM_006775.3) fusion. IDH1 p.R132, IDH2 p.R172, H3-3A p.K28, H3C2 p.K28, and BRAF p.V600 were all wild type. DNA methylome profiling did not match any of the established methylation classes, including the four subtypes of diffuse glioma, MYB- or MYBL1-altered. Considering the results of DNA methylome profiling, the question remains as to whether this case represents a subset of AG (diffuse glioma, MYB/MYBL1-altered) or a distinct subtype. Although the morphological findings and the presence of fusion indicated that the tumor was a cerebellar AG, the DNA methylome profile did not match that of AG. An accumulation of more cases is needed to determine the precise nature of the tumor, which may lead to an expansion of the tumor concept.

血管中心型胶质瘤(AG)是一种幕上弥漫性低级别胶质瘤,其特征是MYB::QKI融合基因,表现为单形纺锤形细胞的血管中心生长,具有星形胶质细胞和上皮细胞免疫分型。我们描述了一例罕见的MYB::QKI融合阳性弥漫性小脑胶质瘤病例,患者是一名54岁的男性。患者最初表现为左侧小脑半球T2/FLAIR高密度病变和缓慢进展的神经症状。组织病理学评估显示,这是一种弥漫性胶质瘤,其特征为纺锤形和小的上皮样细胞,并伴有血管周围浸润。免疫组化显示胶质纤维酸性蛋白阳性,Olig2 偶有阳性。未观察到点状或环状上皮膜抗原免疫反应。该病例的增殖活性高于典型的AG病例,表现为多有丝分裂(4个有丝分裂/切片)和5%的Ki-67标记指数。肿瘤细胞的IDH1 p.R132H和H3 p.K28M突变特异性抗体呈阴性。荧光原位杂交显示出一个MYB断裂信号,反转录聚合酶链反应分析证实了一个框架内MYB(6q23.3,11号外显子,NM_001161659.2)::QKI(6q26,5号外显子,NM_006775.3)融合体。IDH1 p.R132、IDH2 p.R172、H3-3A p.K28、H3C2 p.K28和BRAF p.V600均为野生型。DNA甲基组图谱分析结果与任何已确定的甲基化类别都不匹配,包括弥漫性胶质瘤的四个亚型、MYB-或MYBL1-改变。考虑到DNA甲基组图谱分析的结果,该病例是代表AG(弥漫性胶质瘤、MYB/MYBL1改变)的一个亚型还是一个独特的亚型仍然是个问题。虽然形态学结果和融合的存在表明该肿瘤是小脑AG,但DNA甲基组图谱与AG并不相符。需要积累更多的病例来确定肿瘤的确切性质,这可能会导致肿瘤概念的扩展。
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引用次数: 0
Utilizing quantitative susceptibility mapping to differentiate primary lateral sclerosis from progressive supranuclear palsy: A case report. 利用定量易感性图谱区分原发性侧索硬化症和进行性核上性麻痹:病例报告。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-18 DOI: 10.1111/neup.13015
Hiroaki Sekiya, Ryota Satoh, Farwa Ali, Dennis W Dickson, Jennifer L Whitwell, Keith A Josephs

We report a patient who presented clinically with progressive supranuclear palsy (PSP) but was pathologically diagnosed as having primary lateral sclerosis (PLS) with magnetic resonance imaging (MRI) with a quantitative susceptibility mapping (QSM) protocol. A 70-year-old man was clinically diagnosed with PSP due to early falls and unresponsiveness to levodopa therapy. Postmortem pathological examination revealed mild loss of Betz cells, gliosis, and transactive response DNA binding protein of 43 kDa (TDP-43)-positive inclusions in the motor cortex, leading to the pathological diagnosis of PLS. To explore methods for differentiating PLS from PSP, ante-mortem QSM images were visually and quantitatively assessed for abnormal increases in magnetic susceptibility in the motor cortex. Prussian blue and Luxol fast blue combined with periodic acid-Schiff staining were also performed to understand the source of the susceptibility increases. QSM showed clear hyperintense signals in the motor cortex. Magnetic susceptibility in the motor cortex was higher in the PLS patient (Z = 4.7, p < 0.001) compared to normal controls and pathologically diagnosed PSP patients. Pathological examination of the region showed intracortical myelin loss, as well as iron deposition. Underlying pathological processes for the increased magnetic susceptibility include not only iron deposition but also intracortical myelin. Our case suggests that QSM is a potential tool to differentiate PLS from PSP, providing insights for accurate diagnosis and enhancing clinical decision-making.

我们报告了一名临床表现为进行性核上性麻痹(PSP)的患者,但通过采用定量易感性图谱(QSM)方案进行磁共振成像(MRI)检查,病理诊断为原发性侧索硬化症(PLS)。一名 70 岁的男性因早期跌倒和对左旋多巴治疗无反应而被临床诊断为 PSP。死后病理检查发现,运动皮层中存在轻度贝茨细胞缺失、胶质增生和43 kDa转录反应DNA结合蛋白(TDP-43)阳性包涵体,因此病理诊断为PLS。为了探索将 PLS 与 PSP 区分开来的方法,对死前 QSM 图像进行了视觉和定量评估,以确定运动皮层的磁感应强度是否异常增高。此外,还进行了普鲁士蓝和卢克索快蓝结合周期性酸-希夫染色,以了解磁感应强度增加的来源。QSM 在运动皮层中显示出明显的高强度信号。PLS 患者运动皮层的磁感应强度更高(Z = 4.7,p
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引用次数: 0
Solitary subependymal giant cell astrocytoma lacking TSC1/2 mutations and TTF-1 expression: A potential diagnostic pitfall. 缺乏TSC1/2基因突变和TTF-1表达的孤立性浆膜下巨细胞星形细胞瘤:潜在的诊断陷阱
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-04 DOI: 10.1111/neup.13013
Davide Mulone, Andrea Mafficini, Evelina Miele, Francesco Sala, Valeria Barresi

Subependymal giant cell astrocytoma (SEGA) is a rare, low-grade glioma typically associated with tuberous sclerosis (TS) and mutations in the TSC1 or TSC2 genes. It is characterized by an intraventricular location, an expansive growth pattern, and the expression of glial and neural markers. TTF-1 expression is considered a sensitive marker of SEGA, likely reflecting its origin from progenitor cells in the caudothalamic groove. We report a case of SEGA with unusual immunohistochemical and molecular features in a 20-year-old man with no signs or family history of TS. The tumor was located in the anterior horn of the right ventricle and obstructed the foramen of Monro. Histologically, it exhibited an expansive growth pattern and was composed of cells with ovoid nuclei and abundant eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for GFAP and S-100 protein, weakly positive for SOX2, focally positive for synaptophysin, and negative for TTF-1, neurofilament protein, NeuN, EMA, chromogranin, and BCOR. Scattered OLIG2-positive neoplastic cells were also observed. Molecular analysis revealed no pathogenic mutations or copy number variations in the analyzed 174 genes, including TSC1/2, except for a variant of unknown significance in BAP1. The histopathological features and immunohistochemical profile suggested SEGA, despite the absence of TTF-1 expression and TSC1/2 mutations. The diagnosis was confirmed by DNA methylation profiling, which assigned the tumor to the methylation class "subependymal giant cell astrocytoma with TSC1/TSC2 alterations" with a calibrated score of 0.95. This case highlights the potential diagnostic pitfall of SEGA lacking TTF-1 expression and emphasizes the importance of considering this entity in the differential diagnosis of intraventricular tumors, even in the absence of TS and characteristic molecular alterations. The existence of TTF-1 negative SEGAs reveals that these tumors might also derive from TTF-1 negative cells in the subpendymal region.

脐下巨细胞星形细胞瘤(SEGA)是一种罕见的低级别胶质瘤,通常与结节性硬化症(TS)和 TSC1 或 TSC2 基因突变有关。它的特点是位于脑室内,呈膨胀性生长模式,并表达胶质和神经标记物。TTF-1的表达被认为是SEGA的一个敏感标记,可能反映了它起源于尾丘沟的祖细胞。我们报告了一例具有不寻常免疫组化和分子特征的SEGA病例,患者为一名20岁男性,无TS体征或家族史。肿瘤位于右心室前角,阻塞了蒙罗孔。组织学上,肿瘤呈膨胀性生长,由卵圆形核和大量嗜酸性细胞质的细胞组成。免疫组化结果显示,肿瘤细胞的 GFAP 和 S-100 蛋白阳性,SOX2 弱阳性,突触素局部阳性,TTF-1、神经丝蛋白、NeuN、EMA、嗜铬粒蛋白和 BCOR 阴性。还观察到散在的 OLIG2 阳性肿瘤细胞。分子分析表明,除了 BAP1 中的一个意义不明的变异外,包括 TSC1/2 在内的 174 个分析基因均无致病突变或拷贝数变异。尽管没有TTF-1表达和TSC1/2基因突变,但组织病理学特征和免疫组化图谱均显示为SEGA。DNA甲基化分析证实了这一诊断,并将该肿瘤归入甲基化类别 "伴有TSC1/TSC2改变的亚独立绒毛巨细胞星形细胞瘤",校准分数为0.95。该病例凸显了缺乏TTF-1表达的SEGA的潜在诊断隐患,并强调了在脑室内肿瘤的鉴别诊断中考虑这一实体的重要性,即使没有TS和特征性分子改变。TTF-1阴性SEGA的存在表明,这些肿瘤也可能来自髓鞘下区域的TTF-1阴性细胞。
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引用次数: 0
Primary intracranial dedifferentiated liposarcoma: An extremely rare site with unusual histopathological findings. 原发性颅内低分化脂肪肉瘤:组织病理学发现极为罕见的部位。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-04 DOI: 10.1111/neup.13012
Sumanta Das, Rakesh Kumar Gupta, Jayati Sarangi, Priti Jain, Ramana Gogi, Rana Patir, Sunita Ahlawat

Primary intracranial sarcomas constitute a rare group of tumors, with the most common types described in the literature being chondrosarcoma and fibrosarcoma. Dedifferentiated liposarcoma (DDLS) is a high-grade sarcoma that sometimes metastasizes to the brain. However, a primary intracranial DDLS is exceedingly rare. A 45-year-old patient from the Middle East came to India for treatment. His magnetic resonance imaging (MRI) scans revealed a space-occupying lesion at the level of the lateral ventricle T2/fluid attenuated inversion recovery hyperintensity with peripheral edema. A T1 perfusion map showed high relative cerebral blood volume values in the peripheral part, suggesting a high-grade neoplasm. Gross total resection was performed, and histopathology showed a high-grade tumor composed of sheets of pleomorphic lipoblasts and epithelioid tumor cells arranged in nests and cords. Immunohistochemistry showed diffuse immunopositivity for MDM2, CDK4, and p16, while GFAP and OLIG2 were negative. Fluorescence in situ hybridization showed MDM2 amplification. Final diagnosis of DDLS was rendered. The patient had no systemic lesions elsewhere on positron emission tomography computed tomography scan.

原发性颅内肉瘤是一类罕见的肿瘤,文献中最常见的类型是软骨肉瘤和纤维肉瘤。未分化脂肪肉瘤(DDLS)是一种高级别肉瘤,有时会转移到脑部。然而,原发性颅内 DDLS 却极为罕见。一名 45 岁的患者从中东来到印度接受治疗。他的磁共振成像(MRI)扫描显示,侧脑室T2/流体衰减反转恢复高密度伴周围水肿的占位性病变。T1 灌注图显示外周部分的相对脑血容量值较高,提示为高级别肿瘤。进行了大体全切除,组织病理学显示,这是一个由多形性脂母细胞和上皮样肿瘤细胞组成的高级别肿瘤,这些细胞呈巢状和条索状排列。免疫组化显示,MDM2、CDK4和p16呈弥漫性免疫阳性,而GFAP和OLIG2呈阴性。荧光原位杂交显示 MDM2 扩增。最终诊断为 DDLS。正电子发射计算机断层扫描显示,患者其他部位没有系统性病变。
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引用次数: 0
Adenoid glioblastoma: Stromal hypovascularity and secretion of chondromodulin-I by tumor cells. 腺胶质母细胞瘤:基质血管过少和肿瘤细胞分泌软骨素-I。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-03 DOI: 10.1111/neup.13010
Masayuki Shintaku, Tetsuo Hashiba, Masahiro Nonaka, Akio Asai, Koji Tsuta

The case of a 75-year-old man with a glioblastoma of the right frontal lobe showing features of adenoid glioblastoma is reported. The tumor consisted of two components: the adenoid component, in which large, cohesive, polygonal cells with vesicular nuclei and abundant basophilic cytoplasm showed nest-like, trabecular, or tubular growth on the myxoid matrix and formed a multinodular configuration; and the subsidiary component, in which short spindle cells showed compact fascicular growth. The features of ordinary glioblastoma were also found in a small area. Tumor cells were immunoreactive for S-100 protein, glial fibrillary acidic protein, and Olig2, and some tumor cells in the adenoid component showed immunoreactivity for cytokeratins and E-cadherin. A marked regional decrease in microvascular density, approaching almost complete absence of microvessels, was demonstrated in the adenoid component. In contrast, microvascular density was well preserved in the spindle cell component and the area of ordinary glioblastoma. Tumor cells in the adenoid component showed cytoplasmic expression of chondromodulin-I, one of the cytokines that strongly inhibit angiogenesis, whereas the expression of this protein was very weak or only faint in the spindle cell component and the area of ordinary glioblastoma. A marked regional decrease in microvascular density was associated with myxoid change of the stroma and considered to be caused by the secretion of chondromodulin-I by tumor cells. Stromal hypovascularity with myxoid change might play an important role in the morphogenesis of adenoid features.

本病例报告了一名 75 岁男性的右额叶胶质母细胞瘤病例,该病例显示出腺样胶质母细胞瘤的特征。该肿瘤由两部分组成:腺样部分,其中大而内聚的多角形细胞,具有水泡状核和丰富的嗜碱性胞质,在类肌基质上呈巢状、小梁状或管状生长,并形成多结节结构;附属部分,其中短小的纺锤形细胞呈紧密的束状生长。在一小块区域还发现了普通胶质母细胞瘤的特征。肿瘤细胞对 S-100 蛋白、胶质纤维酸性蛋白和 Olig2 具有免疫活性,腺样成分中的一些肿瘤细胞对细胞角蛋白和 E-cadherin 具有免疫活性。腺样体部分的微血管密度明显下降,几乎完全没有微血管。相比之下,纺锤细胞成分和普通胶质母细胞瘤区域的微血管密度保存完好。腺样成分中的肿瘤细胞胞质表达软骨素-I,这是强烈抑制血管生成的细胞因子之一,而在纺锤体细胞成分和普通胶质母细胞瘤区域,这种蛋白的表达非常微弱或仅有微弱表达。区域性微血管密度明显降低与基质的肌样改变有关,被认为是肿瘤细胞分泌软骨素-I所致。基质血管减少伴肌瘤样改变可能在腺样体特征的形态形成中起重要作用。
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引用次数: 0
Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon. 巴松基因突变的进行性核上性麻痹病理研究。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-31 DOI: 10.1111/neup.13009
Masahiro Wakita, Hiroaki Yaguchi, Mika Otuski, Satoshi Tanikawa, Yasuo Miki, Ikuko Aiba, Mari Yoshida, Taichi Nomura, Hisashi Uwatoko, Yasunori Mito, Kazuyoshi Sinpo, Takeshi Ikeuchi, Shinya Tanaka, Koichi Wakabayashi, Ichiro Yabe

Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.Pro3866Ala in the Bassoon (BSN) gene in a Japanese family with PSP-like syndrome. We newly detected BSN mutations in two autopsied PSP cases carrying p.Thr2542Met and p.Glu2759Gly, respectively. The case with p.Thr2542Met mutation showed neurological symptoms including behavioral abnormalities, cognitive dysfunction, and parkinsonism. Brain magnetic resonance imaging (MRI) showed atrophy of the midbrain tegmentum and hippocampus. Pathologically, moderate to severe loss of neurons with gliosis was also found in the substantia nigra, and there was an almost complete loss of neurons with gliosis in the transitional zone of the cornu ammonis (CA) 1 region to the subiculum. NFTs were observed in the globus pallidus, subthalamic nucleus, substantia nigra, and CA1. 4R tau-dominant tauopathy was detected. The case with p.Glu2759Gly mutation showed neurological symptoms, including right-dominant motor impairment, right limping gait, postural instability, and cognitive dysfunction. Brain MRI showed mild atrophy of the midbrain tegmentum and left-dominant parietal lobe atrophy. Pathologically, NFTs were detected in the globus pallidus, subthalamic nucleus, substantia nigra, thalamus, putamen, and brainstem tegmentum. Most neurons were immunopositive for four-repeat tau, whereas only a few of them harbored three-repeat tau-positive NFTs in the hippocampus. We showed the results of a pathological study of PSP cases with BSN mutations; these were two new cases. The clinical phenotypes were similar to the first case in the point of neurological symptoms. Accumulation of four-repeat tau was dominant. Further autopsies of BSN mutation cases and further elucidation of the molecular biological mechanism are desirable.

进行性核上性麻痹(PSP)的表型多种多样,临床诊断十分困难。从神经病理学角度看,PSP 的定义是基底节和脑干神经元缺失,脑内神经元和胶质细胞中广泛出现神经纤维缠结(NFT)和磷酸化 tau 蛋白堆积。此前,我们在一个患有 PSP 样综合征的日本家族中发现了巴松(BSN)基因中的点突变 p.Pro3866Ala。我们在两个分别携带 p.Thr2542Met 和 p.Glu2759Gly 的 PSP 尸检病例中新发现了 BSN 基因突变。p.Thr2542Met突变的病例表现出神经系统症状,包括行为异常、认知功能障碍和帕金森病。脑磁共振成像(MRI)显示中脑被盖体和海马出现萎缩。从病理学角度看,黑质中度至重度神经元缺失并伴有胶质细胞增生,从粟丘脑(CA)1区到丘脑下的过渡区神经元几乎完全缺失并伴有胶质细胞增生。在苍白球、丘脑下核、黑质和 CA1 中观察到 NFT。发现了 4R tau-dominant(tau-dominant)tauopathy。p.Glu2759Gly突变的病例表现出神经系统症状,包括右侧运动障碍、右侧跛行步态、姿势不稳定和认知功能障碍。脑磁共振成像显示中脑被盖轻度萎缩,左侧顶叶萎缩。病理上,在苍白球、丘脑下核、黑质、丘脑、普门和脑干被盖中发现了NFT。大多数神经元的四重复tau免疫阳性,而海马中只有少数神经元的三重复tau阳性NFT。我们展示了对BSN突变的PSP病例的病理研究结果;这是两个新病例。在神经症状方面,其临床表型与第一个病例相似。四重复 tau 的累积占主导地位。我们需要对更多的BSN突变病例进行尸检,并进一步阐明其分子生物学机制。
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引用次数: 0
Anti-neutrophil cytoplasmic antibody-associated central nervous system vasculitis mimicking brain tumor: A case report. 模仿脑肿瘤的抗中性粒细胞胞浆抗体相关中枢神经系统血管炎:病例报告。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-30 DOI: 10.1111/neup.13011
Yukiko Maeda, Ryotaro Ikeguchi, Kenta Masui, Atsushi Kurata, Kazuo Kitagawa, Yuko Shimizu

Here, we report a case of antineutrophil cytoplasmic antibody (ANCA)-associated central nervous system (CNS) vasculitis that mimicked a brain tumor. The patient presented with progressive right upper arm weakness. Brain magnetic resonance imaging (MRI) revealed large tumor-like lesions in the left frontal and parietal lobes, with patchy and irregular enhancement with gadolinium and edema. Based on the clinical course and radiological findings, a brain tumor was suspected, and stereotactic brain biopsy was performed. Brain histopathology revealed necrotic tissue and lymphocyte infiltration around small vessels and blood vessel walls. Although the patient's clinical course and pathological findings suggested primary angiitis of CNS (PACNS), double staining for myeloperoxidase (MPO) and CD31 (a neutrophil marker) revealed infiltration of MPO-positive neutrophils in the blood vessel walls. Therefore, we diagnosed the patient with ANCA-associated CNS vasculitis. Because CNS vasculitis, including PACNS, presents nonspecific clinical findings and can depict brain tumor-like MRI findings, CNS vasculitis should be carefully differentiated from brain tumors. Additionally, double staining for MPO and CD31 might be useful for evaluating the pathogenesis of CNS vasculitis.

在此,我们报告了一例与抗中性粒细胞胞浆抗体(ANCA)相关的中枢神经系统(CNS)血管炎病例,该病例模仿了脑肿瘤。患者出现进行性右上臂无力。脑磁共振成像(MRI)显示,患者左侧额叶和顶叶出现大面积肿瘤样病变,钆呈斑片状不规则强化,并伴有水肿。根据临床病程和放射学检查结果,怀疑是脑肿瘤,于是进行了立体定向脑活检。脑组织病理学检查显示,小血管和血管壁周围有坏死组织和淋巴细胞浸润。虽然患者的临床病程和病理结果均提示为中枢神经系统原发性血管炎(PACNS),但髓过氧化物酶(MPO)和 CD31(一种中性粒细胞标记物)双重染色显示血管壁有 MPO 阳性的中性粒细胞浸润。因此,我们诊断患者患有 ANCA 相关中枢神经系统血管炎。由于中枢神经系统血管炎(包括 PACNS)表现为非特异性临床表现,并可出现类似脑肿瘤的磁共振成像结果,因此中枢神经系统血管炎应与脑肿瘤仔细鉴别。此外,MPO 和 CD31 的双重染色可能有助于评估中枢神经系统血管炎的发病机制。
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引用次数: 0
Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation. 遗传性痉挛性截瘫伴有胼胝体变薄和 SPG11 基因突变:神经病理学评估
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-11 DOI: 10.1111/neup.13007
Kathryn P Scherpelz, Rebecca A Yoda, Suman Jayadev, Marie Y Davis, Joshua C Hincks, Nicole F Liachko, Robert M Bragg, Alexa Cochoit, Christine L MacDonald, C Dirk Keene, Thomas D Bird, Caitlin S Latimer

Hereditary spastic paraplegia (HSP) with thin corpus callosum can be due to a variety of genetic causes, the most common of which are biallelic variants in SPG11 (HSP11). Only six cases of neuropathologic examination of HSP11 have been reported. Here we present neuropathological findings in another case of HSP11 with novel mutation (homozygous c.6439_6442del) and clinical features of three additional cases of HSP11. These four cases of HSP11 had similar disease courses with prominent lower extremity weakness and spasticity but varied cognitive symptoms and brain magnetic resonance imaging (MRI) findings. Neuropathological examination of one case included ex vivo MRI of the cerebrum, histologic and immunohistochemical evaluation, and Western blot for SPG11. The case was notable for a small cerebrum with decreased volume of cortex, white matter, and deep gray nuclei. The corpus callosum was thin, and the substantia nigra showed marked pallor. Microscopically, the cortex had normal lamination and mild loss of neurons with mild gliosis, the corpus callosum was thin with limited gliosis, and the substantia nigra had marked decrease in neurons and pigment, with minimal gliosis. In contrast, the basal ganglia, thalamus, and spinal cord (anterior horns, corticospinal, and spinocerebellar tracts) had prominent neuron loss and gliosis. Myelin-laden macrophages were found in multiple sites but were most common in the corpus callosum. No hyperphosphorylated tau or TDP-43 aggregates, Lewy bodies, or amyloid β plaques were found. Compared to control, SPG11 was absent in HSP11 brain and markers of autophagy were elevated by Western blot. Comparison with prior reports of HSP with thin corpus callosum and HSP11 demonstrates a disease with a broad range of structural changes of the brain, including features of abnormal development and degeneration.

遗传性痉挛性截瘫(HSP)伴薄胼胝体可由多种遗传原因引起,其中最常见的是 SPG11(HSP11)的双偶变异。目前仅有六例 HSP11 神经病理学检查病例的报道。在此,我们介绍了另一例 HSP11 新型变异(同基因 c.6439_6442del)患者的神经病理学检查结果,以及另外三例 HSP11 患者的临床特征。这四例HSP11病例的病程相似,都有明显的下肢无力和痉挛症状,但认知症状和脑磁共振成像(MRI)结果却各不相同。其中一个病例的神经病理学检查包括脑部体外磁共振成像、组织学和免疫组化评估以及SPG11的Western印迹。该病例的显著特点是大脑小,皮质、白质和深灰色核体积减少。胼胝体变薄,黑质明显苍白。显微镜下,大脑皮层分层正常,神经元轻度缺失,伴有轻度胶质增生;胼胝体变薄,伴有局限性胶质增生;黑质的神经元和色素明显减少,胶质增生极少。与此相反,基底节、丘脑和脊髓(前角、皮质脊髓和脊髓小脑束)的神经元丢失和胶质增生非常明显。在多个部位发现了髓鞘巨噬细胞,但以胼胝体最为常见。未发现高磷酸化tau或TDP-43聚集体、路易体或淀粉样β斑块。与对照组相比,HSP11大脑中没有SPG11,Western印迹显示自噬标记物升高。与之前关于胼胝体变薄的 HSP 和 HSP11 的报道相比,该病表现出广泛的大脑结构变化,包括发育异常和退化的特征。
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引用次数: 0
Central nervous tissue in ovarian mature teratoma: A neuropathological study of 101 resected tumors. 卵巢成熟畸胎瘤的中枢神经组织:101 例切除肿瘤的神经病理学研究。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-03 DOI: 10.1111/neup.13000
Masayuki Shintaku

Ovarian mature teratomas frequently contain central nervous system (CNS) tissue that often exhibits a variety of neuropathologic alterations. The author systematically examined the changes seen in CNS tissue from a series of 251 cases of resected ovarian mature teratomas. A total of 101 (40.2%) samples contained CNS tissue in varying amounts. The principal pathologic findings in the CNS tissue from ovarian mature teratomas were as follows: (i) CNS tissue tended to form a relatively thin, undulating, plate-like structure that comprised the walls or septa of cystic tumors; (ii) most neurons were small or medium sized, and no CD34-positive "ramifying cells" were observed; (iii) cytoplasmic processes of some astrocytes closely surrounded the walls of capillaries, suggesting formation of a blood-brain barrier; (iv) some ependymal cells exhibited a columnar shape and showed a pseudostratified arrangement, and these cells extended thick basal cytoplasmic processes into the neuropil; (v) a few choroid plexus epithelial cells showed melanin deposition, tubular transformation, or oncocytic changes; (vi) hamartoma-like hyperplasia of arachnoid cells was noted beneath skin tissue; (vii) some CNS tissue showed formation of cerebral cortical structures exhibiting "gyration" with incompletely layered structures, and disruption of the glia limitans with spillage of cortical tissue into the "subarachnoid" space was also observed; and (viii) in the well-formed cerebellar cortex, dendrites of Purkinje cells exhibited varied dysmorphic changes. These neuropathologic observations should lead to a deeper understanding of the pathogenesis of various lesions in the brain.

卵巢成熟畸胎瘤中经常含有中枢神经系统(CNS)组织,这些组织通常会出现各种神经病理学改变。作者对一系列 251 例切除的卵巢成熟畸胎瘤中的中枢神经系统组织变化进行了系统研究。共有 101 个样本(40.2%)含有不同数量的中枢神经系统组织。卵巢成熟畸胎瘤中枢神经系统组织的主要病理结果如下:(i) 中枢神经系统组织往往形成相对较薄、起伏不定的板状结构,构成囊性肿瘤的壁或隔膜;(ii) 大多数神经元为小型或中型,未观察到 CD34 阳性的 "柱状细胞";(iii) 一些星形胶质细胞的胞浆突起紧紧包裹着毛细血管壁,表明形成了血脑屏障;(iv) 一些上皮细胞呈柱状,呈假增生排列,这些细胞将粗大的基底胞浆突起伸入神经鞘内;(v) 少数脉络丛上皮细胞出现黑色素沉积、管状变或肿瘤细胞变化;(vi) 皮肤组织下出现蛛网膜细胞仓瘤样增生;(vii) 一些中枢神经系统组织显示大脑皮层结构的形成呈现 "回旋 "状,结构分层不完整,还观察到边缘胶质细胞的破坏,皮层组织溢出到 "蛛网膜下腔";以及 (viii) 在形成良好的小脑皮层中,浦肯野细胞的树突表现出不同的畸形变化。这些神经病理学观察结果应有助于加深对大脑各种病变发病机制的理解。
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引用次数: 0
Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences. 一名老年患者的鼻腔未成熟畸胎瘤:临床病理学和表观遗传学与中枢神经系统同类疾病的相似之处,以及基因组差异。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-10-02 DOI: 10.1111/neup.13008
Shintaro Inoue, Hirokazu Takami, Shota Tanaka, Masashi Nomura, Shunsaku Takayanagi, Yuki Saito, Shu Kikuta, Kenji Kondo, Reiko Matsuura, Masako Ikemura, Sho Yamazawa, Masao Matsutani, Ryo Nishikawa, Yuko Matsushita, Koichi Ichimura, Nobuhito Saito

Germ cell tumors (GCTs) are categorized as gonadal or extra-gonadal, based on the origin. Extra-gonadal GCTs predominantly manifest within the central nervous system (CNS), mediastinum, retroperitoneum, and sacrococcygeal region. These malignancies are most frequently diagnosed in the pediatric, adolescent, and young adult demographics. Incidences of GCT within the nasal cavity are notably scarce, with only six cases documented. This report details the case of a 70-year-old man who presented with a left nasal mass ultimately diagnosed as immature teratoma. A remarkable aspect of this case was the detection of SMARCA4 (BRG1) loss through immunohistochemical analysis. In addition, methylation profiling aligned this case with CNS GCTs, specifically those classified as non-germinomatous GCTs. This molecular characterization informed a tailored therapeutic strategy incorporating carboplatin and etoposide, alongside localized irradiation. This individualized treatment regimen achieved favorable outcomes, with the patient remaining recurrence free for over three years. This highlights the need for precise therapeutic approaches in the management of extragonadal GCTs, particularly those arising in atypical anatomical locations. The present case accentuates the significance of thorough diagnostic evaluations and customized treatment plans for rare GCT presentations. Further empirical and clinical investigations are warranted to enhance our understanding of and refine therapeutic protocols for such exceptional cases.

生殖细胞瘤(GCT)根据起源可分为性腺肿瘤和性腺外肿瘤。性腺外生殖细胞瘤主要发生在中枢神经系统(CNS)、纵隔、腹膜后和骶尾部。这些恶性肿瘤最常在儿童、青少年和青年人群中确诊。鼻腔内的 GCT 发病率明显较低,仅有 6 例记录在案。本报告详细介绍了一名 70 岁男性的病例,他出现左侧鼻腔肿块,最终被诊断为未成熟畸胎瘤。该病例的一个显著特点是通过免疫组化分析发现了 SMARCA4 (BRG1) 缺失。此外,甲基化分析将该病例与中枢神经系统 GCTs(特别是那些被归类为非肉芽肿性 GCTs 的病例)相一致。这种分子特征描述为结合卡铂和依托泊苷以及局部照射的定制治疗策略提供了依据。这种个体化治疗方案取得了良好的疗效,患者在三年多的时间里没有复发。这凸显了在治疗鳞状上皮外 GCT,尤其是那些发生在非典型解剖部位的 GCT 时,需要采用精确的治疗方法。本病例强调了对罕见的 GCT 表现进行全面诊断评估和定制治疗方案的重要性。我们有必要开展进一步的实证和临床研究,以加深对此类特殊病例的了解并完善治疗方案。
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引用次数: 0
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Neuropathology
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