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An autopsy case of diffuse atypical argyrophilic grain disease (AGD) with presenile onset and three-year course of motor and cognitive impairment. 一例弥漫性非典型嗜银粒病(AGD)的尸检病例,早老性发作,运动和认知障碍三年。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-07 DOI: 10.1111/neup.12949
Kimiko Inoue, Satoko Sugase, Takashi Naka, Takeshi Ikeuchi, Shigeo Murayama, Harutoshi Fujimura

We report a case of argyrophilic grain disease (AGD) with unique clinical and pathological presentations. A 52-year-old man presented with spastic quadriparesis, bulbar palsy, and mild cognitive decline. His condition deteriorated rapidly and he died of pneumonia three years from onset. Pathologically, neuronal degeneration was involved severely in the amygdala, ambient gyrus, midbrain tegmentum, and reticular formation. The neurons of the temporal lobe, cingulate gyrus, brainstem, and spinal gray matter were also lost moderately. There was diffuse 4-repeat tau-pathology with argyrophilic grains. There were pretangles, globose-type neurofibrillary tangles, and coiled bodies in the cerebral cortices, basal ganglia, thalami, brainstem, and the spinal cord except for the cerebellar cortices. There was no pathologic mutation in MAPT.

我们报告了一例嗜银颗粒病(AGD),具有独特的临床和病理表现。一名52岁的男子表现为痉挛性四肢瘫痪、球麻痹和轻度认知能力下降。他的病情迅速恶化,三次死于肺炎 发病后数年。病理学上,杏仁核、环回、中脑被盖和网状结构的神经元变性严重。颞叶、扣带回、脑干和脊髓灰质的神经元也中度丢失。弥漫性4重复tau病理,伴有嗜银颗粒。除小脑皮质外,大脑皮质、基底神经节、丘脑、脑干和脊髓均存在前角、球状神经原纤维缠结和螺旋体。MAPT无病理性突变。
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引用次数: 0
Primary central nervous system extranodal NK/T-cell lymphoma, nasal type with CD20 expression: Case report and review of the literature. 原发性中枢神经系统结外NK/ t细胞淋巴瘤,鼻型伴CD20表达:病例报告及文献复习。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-14 DOI: 10.1111/neup.12954
Jiexia Guan, Weizhen Lin, Weimin Liu, Dayang Hui

Primary central nervous system (PCNS) extranodal NK/T-cell lymphoma, nasal type (ENKTCL), is an exceedingly rare tumor. To the best of our knowledge, only 27 cases and only one reported aberrant CD20 expression have been documented in the literature. Here we present a second case of PCNS ENKTCL with aberrant CD20 expression in a 43-year-old immunocompetent Chinese female. The patient presented with tremors, weakness in the right upper limb, and a slow reaction. Magnetic resonance imaging revealed multiple brain lesions. A histological examination revealed a diffuse distribution of intermediate-sized pleomorphic lymphocytes with angiocentric growth. The tumor cells expressed CD2, CD3, CD56, T-cell intracellular antigen-1, granzyme B, and Epstein-Barr virus-encoded RNAs (EBERs), with additional partial and weak CD20 and CD30 expression. Despite a confirmatory pathological diagnosis, the patient refused treatment and was discharged, ultimately dying from the disease. In the literature review, the clinical, immunohistochemical, EBERs, treatment, and prognostic features of PCNS ENKTCL were summarized. Although PCNS ENKTCT is extremely rare, it does occur and should always be included in differential diagnoses. CD20 expression should be evaluated routinely with relevant markers. The accumulation of cases is crucial for developing an effective treatment strategy for this rare and aggressive malignancy.

原发性中枢神经系统结外NK/ t细胞淋巴瘤,鼻型(ENKTCL)是一种极为罕见的肿瘤。据我们所知,文献中只有27例和1例CD20异常表达被报道。在此,我们报告了第二例CD20表达异常的PCNS ENKTCL,患者为一名43岁的具有免疫功能的中国女性。患者表现为震颤、右上肢无力和反应缓慢。磁共振成像显示多发性脑损伤。组织学检查显示弥漫分布的中等大小多形性淋巴细胞以血管为中心生长。肿瘤细胞表达CD2、CD3、CD56、t细胞内抗原-1、颗粒酶B和eb病毒编码的rna (EBERs),另外部分和弱表达CD20和CD30。尽管确诊的病理诊断,病人拒绝治疗并出院,最终死于疾病。在文献综述中,总结了PCNS ENKTCL的临床、免疫组织化学、EBERs、治疗和预后特点。虽然PCNS ENKTCT极为罕见,但它确实发生过,应始终纳入鉴别诊断。CD20表达应常规用相关标记物进行评估。病例的积累对于这种罕见和侵袭性恶性肿瘤的有效治疗策略至关重要。
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引用次数: 0
Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations. 成人内耳道出现多层玫瑰花结的胚胎肿瘤:分子研究的例证病例。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-02 DOI: 10.1111/neup.12951
Adam Sheriff, Hirokazu Takami, Shunsaku Takayanagi, Yosuke Kitagawa, Shota Tanaka, Masako Ikemura, Reiko Matsuura, Yuko Matsushita, Koichi Ichimura, Nobuhito Saito

Embryonal tumors with multilayered rosettes (ETMRs) are aggressive central nervous system (CNS) tumors that usually occur in young children. Here, we describe the first incidence of ETMR in an adult patient that also originated in the novel location of the internal auditory canal (IAC). The 36-year-old patient initially presented with unsteadiness, diplopia, and tinnitus. The tumor in the IAC was discovered on brain magnetic resonance imaging, and gross total resection was performed followed by pathological and molecular diagnosis. The patient received whole brain and spinal cord radiotherapy after an intracranial recurrence and adjuvant chemotherapy consisting of four cycles of ifosfamide, cisplatin, and etoposide. Progression was rapid; however, the patient survived for 22 months after diagnosis before succumbing to the disease. Molecular investigation revealed a DICER1 mutation at exon 25, and methylation classification categorized the tumor as ETMR, non-C19MC-altered. This case underscores the diverse possible presentations of ETMR, DICER1-mutated and the importance of molecular techniques to characterize and promptly treat atypical ETMR.

具有多层玫瑰花结的胚胎肿瘤(ETMR)是一种侵袭性中枢神经系统(CNS)肿瘤,通常发生在幼儿中。在这里,我们描述了成年患者首次发生的ETMR,它也起源于内耳道(IAC)的新位置。这位36岁的患者最初表现为不稳定、复视和耳鸣。IAC的肿瘤是在脑磁共振成像上发现的,并进行了大体全切除,随后进行了病理和分子诊断。患者在颅内复发后接受了全脑和脊髓放射治疗,并接受了由异环磷酰胺、顺铂和依托泊苷四个周期组成的辅助化疗。进展迅速;然而,病人存活了22年 确诊数月后才死于疾病。分子研究显示,外显子25处有DICER1突变,甲基化分类将肿瘤归类为ETMR,非C19MC替代。该病例强调了ETMR、DICER1突变的多种可能表现,以及分子技术对表征和及时治疗非典型ETMR的重要性。
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引用次数: 0
SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report. 非NF1患者的SEGA样局限性星形细胞瘤,具有GBM的分子特征。病例报告。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-02 DOI: 10.1111/neup.12948
Seiji Yamada, Motoki Tanikawa, Yuko Matsushita, Ryota Fujinami, Hiroshi Yamada, Kaishi Sakomi, Tomohiro Sakata, Hidehito Inagaki, Hideaki Yokoo, Koichi Ichimura, Mitsuhito Mase

Subependymal giant cell astrocytoma (SEGA) is a low-grade periventricular tumor that is closely associated with tuberous sclerosis complex (TSC). SEGA typically arises during the first two decades of life and rarely arises after the age of 20-25 years. Nevertheless, it has also been reported that glioma histologically resembling SEGA, so-called SEGA-like astrocytoma, can arise in neurofibromatosis type 1 (NF1) patients, even in the elderly. Herein, we report a case of SEGA-like circumscribed astrocytoma arising in the lateral ventricle of a 75-year-old woman. Whole-exome sequencing revealed a somatic variant of NF1. Methylation array analysis led to a diagnosis of "methylation class glioblastoma, IDH-wildtype, mesenchymal-type (GBM, MES)" with a high calibrated score (0.99). EGFR amplification, CDKN2A/B homozygous deletion, chromosomal +7/-10 alterations, and TERT promoter mutation, typical molecular abnormalities usually found in GBM, were also observed. While most reported cases of SEGA-like astrocytoma have arisen in NF1 patients, the patient was neither TSC nor NF1. Near total removal was accomplished with endoscopic cylinder surgery. At the 36-month follow-up, there was no tumor recurrence without adjuvant therapies. This clinical behavior did not match GBM. SEGA-like astrocytoma of the elderly is rare, and this is the oldest case reported so far. In addition, high-grade molecular features found in circumscribed tumor remain unclear. Further investigations among larger series are needed for clarifying the underlying molecular mechanisms.

室管膜下巨细胞星形细胞瘤(SEGA)是一种与结节性硬化综合征(TSC)密切相关的低级别室周肿瘤。SEGA通常发生在生命的前二十年,很少发生在20-25岁之后 年。然而,也有报道称,在组织学上类似SEGA的神经胶质瘤,即所谓的SEGA样星形细胞瘤,可能出现在1型神经纤维瘤病(NF1)患者中,甚至在老年人中。在此,我们报告了一例发生在一名75岁女性侧脑室的SEGA样局限性星形细胞瘤。全外显子组测序揭示了NF1的体细胞变体。甲基化阵列分析诊断为“甲基化类胶质母细胞瘤,IDH野生型,间充质型(GBM,MES)”,评分高(0.99)。还观察到EGFR扩增、CDKN2A/B纯合缺失、染色体+7/-10改变和TERT启动子突变,这是GBM中常见的典型分子异常。虽然大多数报告的SEGA样星形细胞瘤病例发生在NF1患者中,但该患者既不是TSC也不是NF1。内窥镜圆柱体手术几乎完全切除。在36个月的随访中,在没有辅助治疗的情况下没有肿瘤复发。这种临床行为与GBM不匹配。老年人的SEGA样星形细胞瘤是罕见的,这是迄今为止报道的最古老的病例。此外,在局限性肿瘤中发现的高级分子特征尚不清楚。需要在更大的系列中进行进一步的研究,以阐明潜在的分子机制。
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引用次数: 0
A rare encounter: Comprehensive case review of myxoid meningiomas with a representative case. 罕见的偶遇:一例典型的黏液样脑膜瘤的综合病例回顾。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-12 DOI: 10.1111/neup.12955
Norris C Talbot, Carlie Proctor, Hidehiro Takei, Jamie B Toms

Meningiomas are the most diagnosed primary central nervous system tumor. Currently, 15 different subtypes of meningioma exist with various characteristics. One extremely rare subtype is myxoid meningioma, which is a World Health Organization grade 1 benign meningioma. These specific meningiomas have only been reported 12 times in the literature. In this representative case, we present a 46-year-old female patient with a left frontal myxoid meningioma, describe the findings on imaging, and provide the histopathological features that are needed for diagnosis. Furthermore, this report discusses the other existing myxoid meningioma case reports found throughout the literature.

脑膜瘤是诊断最多的原发性中枢神经系统肿瘤。目前,脑膜瘤有15种不同的亚型,具有不同的特征。粘液样脑膜瘤是一种极为罕见的亚型,是世界卫生组织一级良性脑膜瘤。这些特殊的脑膜瘤在文献中只报道过12次。在这个具有代表性的病例中,我们报告了一位46岁的女性左额部黏液样脑膜瘤患者,描述了其影像学表现,并提供了诊断所需的组织病理学特征。此外,本报告还讨论了文献中发现的其他现有黏液样脑膜瘤病例报告。
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引用次数: 0
Ependymoma-like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge. ZFTA:NCOA1融合的间充质分化Ependymoma样肿瘤:诊断挑战。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-01 Epub Date: 2023-11-06 DOI: 10.1111/neup.12952
Pranav Dorwal, Christine White, Anna Fn Goh, Amit Kumar, Jane McEniery, Rick Walker, Thomas Robertson

Ependymal tumors are classified based on their location, histology, and molecular characteristics. Supratentorial ependymomas (ST-EPNs) are a group of circumscribed supratentorial gliomas, which usually have pathogenic fusions involving either zinc finger translocation associated (ZFTA) (formerly C11orf95) or YAP1. A subtype of ependymoma was recently described and labeled ependymoma-like tumors with mesenchymal differentiation (ELTMDs). We describe a case of a 5-year-old boy who presented with a right frontal tumor. The diagnosis was challenging, and a correct diagnosis could only be reached after reanalysis of methylation data with a more recent version of the classifier and RNA fusion testing, which revealed ZFTA:NCOA1 (nuclear receptor coactivator 1) fusion. There are only a handful of cases of this entity, which is being reported for its rarity and the diagnostic challenge it poses.

Ependymal肿瘤根据其位置、组织学和分子特征进行分类。幕上室管膜瘤(ST-EPNs)是一组局限性幕上神经胶质瘤,通常具有致病性融合,涉及锌指易位相关(ZFTA)(以前为C11orf95)或YAP1。室管膜瘤的一种亚型最近被描述并标记为具有间充质分化的室管膜样肿瘤(ELTMDs)。我们描述了一个5岁男孩的病例,他表现为右额肿瘤。诊断具有挑战性,只有在用最新版本的分类器和RNA融合测试重新分析甲基化数据后才能得出正确的诊断,该测试揭示了ZFTA:NCOA1(核受体共激活因子1)融合。这种实体只有少数病例,由于其罕见性及其带来的诊断挑战而被报道。
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引用次数: 0
ASK1 activation in glial cells in post-mortem multiple sclerosis tissue. 多发性硬化症死后组织神经胶质细胞中的 ASK1 激活。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-05-22 DOI: 10.1111/neup.12978
Erika Seki, Xiaoli Guo, Kazuhiko Namekata, Takashi Komori, Hiroyuki Hayashi, Nobutaka Arai, Takayuki Harada

Multiple sclerosis (MS), the leading cause of disability in young adults, is an inflammatory disease of the central nervous system characterized by localized areas of demyelination. Apoptosis signal-regulating kinase 1 (ASK1) is a mitogen-activated protein kinase kinase kinase that has been shown to be implicated in the pathogenesis of experimental autoimmune encephalomyelitis (EAE), a mouse model of MS. Interestingly, ASK1 signaling regulates glial cell interactions and drives neuroinflammation in EAE mice. To further investigate its clinical significance, in the present study, we examined the activation of ASK1 in the post-mortem brain of MS patients. ASK1 activation was found in active lesions of the corpus callosum in both microglia/macrophages and astrocytes. Moreover, ASK1 activation in astrocytes was higher than that in microglia/macrophages, which was in line with our findings in EAE mice. Our results suggest an important role of ASK1 in glial cells, indicating that ASK1 might be a good therapeutic target for MS.

多发性硬化症(MS)是青壮年致残的主要原因,是一种以局部脱髓鞘区域为特征的中枢神经系统炎症性疾病。凋亡信号调节激酶1(ASK1)是一种丝裂原活化蛋白激酶,已被证明与多发性硬化症小鼠模型--实验性自身免疫性脑脊髓炎(EAE)的发病机制有关。有趣的是,ASK1 信号调节神经胶质细胞的相互作用,并驱动 EAE 小鼠的神经炎症。为了进一步研究其临床意义,我们在本研究中检测了多发性硬化症患者死后大脑中 ASK1 的激活情况。在胼胝体活动性病变中的小胶质细胞/巨噬细胞和星形胶质细胞中都发现了 ASK1 的活化。此外,星形胶质细胞中的ASK1活化高于小胶质细胞/巨噬细胞,这与我们在EAE小鼠中的发现一致。我们的研究结果表明,ASK1在神经胶质细胞中起着重要作用,这表明ASK1可能是多发性硬化症的一个很好的治疗靶点。
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引用次数: 0
Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine. 拉丁美洲-伊比利亚髓母细胞瘤体细胞突变谱分析及驱动基因的临床影响:迈向精准医疗。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-05-12 DOI: 10.1111/neup.12979
Letícia Ganem Rillo Paz Barateiro, Rodrigo de Oliveira Cavagna, Mariana Bisarro Dos Reis, Flávia Escremim de Paula, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Murilo Bonatelli, Iara Santana, Fabiano Pinto Saggioro, Luciano Neder, João Norberto Stavale, Suzana Maria Fleury Malheiros, Hernan Garcia-Rivello, Silvia Christiansen, Susana Nunes, Maria João Gil da Costa, Jorge Pinheiro, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis

Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity. Among the patients, 66.7% were MBSHH, 13.0% MBWNT, 7.3% MBGrp3, and 13.0% MBGrp4. Among the 63 variants found, 54% were classified as Tier I/II and 31.7% as oncogenic/likely oncogenic. We observed 33.3% of cases harboring at least one mutation. TP53 (23.2%, 16/69) was the most mutated gene, followed by PIK3CA (5.8%, 4/69), KIT (4.3%, 3/69), PDGFRA (2.9%, 2/69), EGFR (1.4%, 1/69), ERBB2 (1.4%, 1/69), and NRAS (1.4%, 1/69). Approximately 41% of MBSHH tumors exhibited mutations, TP53 (32.6%) being the most frequently mutated gene. Tier I/II and oncogenic/likely oncogenic TP53 variants were associated with relapse, progression, and lower survival rates. Potentially actionable variants in the PIK3CA and KIT genes were identified. Latin-Iberian medulloblastomas, particularly the MBSHH, exhibit higher mutation frequencies than other populations. We corroborate the TP53 mutation status as an important prognostic factor, while PIK3CA and KIT are potential therapeutic targets.

髓母细胞瘤(MB)是儿童中最常见的恶性脑肿瘤,因其异质性和治疗相关毒性而闻名,目前亟需新的治疗靶点。我们使用 Illumina TruSight Tumor 15 面板分析了 69 例拉丁美洲-伊比利亚分子特征髓母细胞瘤中 15 个驱动基因的体细胞突变情况。我们根据变异的临床影响和致癌性对其进行了分类。在患者中,66.7% 为 MBSHH,13.0% 为 MBWNT,7.3% 为 MBGrp3,13.0% 为 MBGrp4。在发现的 63 个变异中,54% 被归类为 I 级/II 级,31.7% 被归类为致癌/可能致癌。我们观察到 33.3% 的病例至少携带一种变异。TP53(23.2%,16/69)是突变最多的基因,其次是PIK3CA(5.8%,4/69)、KIT(4.3%,3/69)、PDGFRA(2.9%,2/69)、表皮生长因子受体(1.4%,1/69)、ERBB2(1.4%,1/69)和NRAS(1.4%,1/69)。约41%的MBSHH肿瘤出现基因突变,TP53(32.6%)是最常见的突变基因。I/II级和致癌/可能致癌的TP53变异与复发、病情进展和生存率降低有关。此外,还发现了 PIK3CA 和 KIT 基因中可能具有可操作性的变异。拉丁美洲-伊比利亚髓母细胞瘤,尤其是MBSHH,比其他人群表现出更高的变异频率。我们证实TP53基因突变状态是一个重要的预后因素,而PIK3CA和KIT则是潜在的治疗靶点。
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引用次数: 0
An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently. 一例带有 GRN 突变的 A 型 FTLD-TDP 尸检病例,发病时表现为原发性进行性失语的对数开放变异型,随后出现皮质基底综合征。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-05-07 DOI: 10.1111/neup.12980
Takafumi Tomenaga, Shinobu Minatani, Hiroto Namba, Akitoshi Takeda, Takahito Yoshizaki, Joji Kawabe, Nazere Keyoumu, Hiroyuki Morino, Makoto Higuchi, Tomoyasu Matsubara, Hiroyuki Hatsuta, Masato Hasegawa, Shigeo Murayama, Yoshiaki Itoh

A 68-year-old woman presented with difficulty finding words and writing characters. Neurological examination led to clinical diagnosis at onset of the logopenic variant of primary progressive aphasia accompanied with ideomotor apraxia, visuospatial agnosia on the right, and Gerstmann syndrome. Bradykinesia and rigidity on the right with shuffling gait developed after one year. Treatment with L-dopa had no effect. The patient was diagnosed with corticobasal syndrome (CBS). Brain magnetic resonance imaging revealed diffuse cortical atrophy dominantly on the left, especially in the temporal, parietal, and occipital lobes. Positron emission tomography did not reveal any significant accumulation of amyloid β or tau protein. She died five years later. Neuropathological examination revealed diffuse cortical atrophy with severe neuronal loss and fibrous gliosis in the cortex. Neuronal cytoplasmic inclusions, short dystrophic neurites, and, most notably, neuronal intranuclear inclusions, all immunoreactive for phosphorylated TDP-43, were observed. Western blotting revealed a full length and fragments of phosphorylated TDP-43 at 45 and 23 kDa, respectively, confirming the pathological diagnosis of type A FTLD-TDP. Whole exome sequencing revealed a pathogenic mutation in GRN (c.87dupC). FTLD-TDP should be included in the differential diagnosis of CBS.

一名 68 岁的妇女因找不到单词和书写汉字而就诊。通过神经系统检查,临床诊断为原发性进行性失语的对数开放变异型,伴有意念运动障碍、右侧视觉空间缺失和格斯特曼综合征。一年后出现右侧运动迟缓和僵直,步态不稳。左旋多巴治疗没有效果。患者被诊断为皮质基底综合征(CBS)。脑磁共振成像显示,弥漫性皮质萎缩以左侧为主,尤其是颞叶、顶叶和枕叶。正电子发射断层扫描没有发现淀粉样蛋白β或tau蛋白的明显积聚。她在五年后去世。神经病理学检查显示,她的大脑皮层弥漫性萎缩,神经元严重缺失,皮层出现纤维胶质增生。观察到神经元胞浆包涵体、短小的萎缩性神经元,最明显的是神经元核内包涵体,它们对磷酸化的TDP-43均有免疫反应。Western 印迹显示,磷酸化 TDP-43 的全长和片段分别为 45 kDa 和 23 kDa,证实了 A 型 FTLD-TDP 的病理诊断。全外显子组测序显示,GRN存在致病突变(c.87dupC)。FTLD-TDP应包括在CBS的鉴别诊断中。
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引用次数: 0
A case of myxopapillary ependymoma with predominant giant cell morphology: A rare entity with comprehensive genomic profiling and review of literature 一例以巨细胞形态为主的肌乳头状上皮瘤:罕见病例的全面基因组分析和文献综述
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-04-19 DOI: 10.1111/neup.12977
Bryan Morales‐Vargas, Hassan Saad, Daniel Refai, Matthew Schniederjan, Zied Abdullaev, Kenneth Aldape, Malak Abedalthagafi
In the evolving landscape of ependymoma classification, which integrates histological, molecular, and anatomical context, we detail a rare case divergent from the usual histopathological spectrum. We present the case of a 37‐year‐old man with symptomatic spinal cord compression at the L3–L4 level. Neuroradiological evaluation revealed an intradural, encapsulated mass. Histologically, the tumor displayed atypical features: bizarre pleomorphic giant cells, intranuclear inclusions, mitotic activity, and a profusion of eosinophilic cytoplasm with hyalinized vessels, deviating from the characteristic perivascular pseudorosettes or myxopapillary patterns. Immunohistochemical staining bolstered this divergence, marking the tumor cells positive for glial fibrillary acidic protein and epithelial membrane antigen with a characteristic ring‐like pattern, and CD99 but negative for Olig‐2. These markers, alongside methylation profiling, facilitated its classification as a myxopapillary ependymoma (MPE), despite the atypical histologic features. This profile underscores the necessity of a multifaceted diagnostic process, especially when histological presentation is uncommon, confirming the critical role of immunohistochemistry and molecular diagnostics in classifying morphologically ambiguous ependymomas and exemplifying the histological diversity within MPEs.
在综合组织学、分子学和解剖学背景的不断发展的脑外胶质瘤分类中,我们详细介绍了一例不同于常见组织病理学范围的罕见病例。我们介绍了一例 37 岁男子的病例,他的 L3-L4 水平有症状性脊髓压迫。神经放射学评估显示其为硬膜内包裹性肿块。组织学上,肿瘤显示出非典型特征:奇异的多形性巨细胞、核内包涵体、有丝分裂活动、大量嗜酸性细胞质和透明化血管,偏离了特征性的血管周围假乳头状或肌乳头状形态。免疫组化染色证实了这一差异,标记为胶质纤维酸性蛋白和上皮膜抗原阳性的肿瘤细胞具有特征性环状模式,CD99阳性,但Olig-2阴性。尽管组织学特征不典型,但这些标记物以及甲基化分析有助于将其归类为肌乳头状上皮瘤(MPE)。这一特征强调了多方面诊断过程的必要性,尤其是在组织学表现不常见的情况下,这也证实了免疫组化和分子诊断在形态学上模糊的上皮瘤分类中的关键作用,并体现了MPE的组织学多样性。
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引用次数: 0
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Neuropathology
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