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In‐house molecular diagnosis of diffuse glioma updating the revised WHO classification by a platform of the advanced medical care system, Senshin‐Iryo Neuropathology (IF 2.3) Pub Date : 2024-03-13 Nobuhiro Hata, Yutaka Fujioka, Ryosuke Otsuji, Daisuke Kuga, Ryusuke Hatae, Yuhei Sangatsuda, Takeo Amemiya, Naoki Noguchi, Aki Sako, Minoru Fujiki, Masahiro Mizoguchi, Koji Yoshimoto
Since the World Health Organization (WHO) 2016 revision, the number of molecular markers required for diffuse gliomas has increased, placing a burden on clinical practice. We have established an in‐house, molecular diagnostic platform using Senshin‐Iryo, a feature of Japan's unique healthcare system, and partially modified the analysis method in accordance with the WHO 2021 revision. Herein, we review
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The predominance of “astrocytic” intranuclear inclusions in neuronal intranuclear inclusion disease manifesting encephalopathy‐like symptoms: A case series with brain biopsy Neuropathology (IF 2.3) Pub Date : 2024-03-13 Keisuke Ishizawa, Takashi Komori, Taku Homma, Jun Sone, Yasuhiro Nakata, Yoshihiko Nakazato, Kazushi Takahashi, Toshimasa Yamamoto, Atsushi Sasaki
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder represented by eosinophilic intranuclear inclusions (EIIs) and GGC/CGG repeat expansion in the NOTCH2NLC gene. We report here two adult cases of NIID, genetically confirmed, with manifestation of encephalopathy‐like symptoms and address the histopathologic findings obtained by brain biopsies, with a focus on “astrocytic”
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Neuropilin‐1 enhances temozolomide resistance in glioblastoma via the STAT1/p53/p21 axis Neuropathology (IF 2.3) Pub Date : 2024-03-07 Ping Huang, Lixia Zhang, Hongwei Wang, Changwu Dou, Haitao Ju, Peng Yue, Jiaxing Ren
Glioblastoma (GBM) is the most prevalent primary intracranial tumor. Temozolomide (TMZ) is the first‐line chemotherapy for GBM. Nonetheless, the development of TMZ resistance has become a main cause of treatment failure in GBM patients. Evidence suggests that neuropilin‐1 (NRP‐1) silencing can attenuate GBM cell resistance to TMZ. This study aims to determine potential mechanisms by which NRP‐1 affects
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From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review Neuropathology (IF 2.3) Pub Date : 2024-03-06 Imen Ketata, Emna Ellouz
Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC gene. In alignment with that, we investigated the natural history of KD spanning eight decades to gain a deeper understanding of the evolutionary trajectory of its mechanisms. Through our comprehensive analysis, we
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Hemorrhage from metastatic brain epithelioid hemangioendothelioma: A case report Neuropathology (IF 2.3) Pub Date : 2024-03-02 Tatsuya Fusegawa, Takahiko Tomita, Noriko Okuno, Takuya Akai, Satoshi Kuroda
In this report, we describe a very rare case of metastatic epithelioid hemangio‐endothelioma (EHE) originating from other organs such as the lung and requiring craniotomy due to subsequent hemorrhage. A 50‐year‐old man was diagnosed with EHE in the bilateral lungs, the mediastinum, and the right adrenal gland 8 years earlier. One year earlier, he had developed spinal metastasis. Six months earlier
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Collision tumor: Multinodular and vacuolating neuronal tumor with isocitrate dehydrogenase‐mutant diffuse astrocytoma Neuropathology (IF 2.3) Pub Date : 2024-02-28 Vinodh A. Kumar, Alejandro Perez, Angela L. Young, Julia Jones, Barbara J. O'Brien, Frederick F. Lang, Jason T. Huse, Gregory N. Fuller
Herein, we report a case of a collision tumor involving a multinodular and vacuolating neuronal tumor (MVNT) and a diffuse astrocytoma. A collision tumor between these two entities has not previously been reported. The patient is a 35‐year‐old woman who presented with new‐onset hearing loss and ringing in her right ear. Magnetic resonance imaging identified a non‐enhancing mass involving the gray matter
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Spinal astroblastoma, MN1 altered in 3‐year‐old child: An uncommon tumor at an unusual site Neuropathology (IF 2.3) Pub Date : 2024-02-27 Arun Kumar Panda, Sumanta Das, Anuj Singh, Sandeep Vaishya, Rakesh Kumar Gupta, Mehar Chand Sharma, Sunita Ahlawat
Astroblastoma is an uncommon circumscribed glial tumor mostly involving the cerebral hemisphere. The characteristic molecular alteration is meningioma (disrupted in balanced translocation) 1 (MN1) rearrangement. No definite World Health Organization grade has been assigned as both low‐ and high‐grade tumors are known to occur. Tumors in the spine are extremely rare; to date only three cases have been
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Malignancy arising in adamantinomatous craniopharyngioma: Report of a rare case with unusual morphologic features Neuropathology (IF 2.3) Pub Date : 2024-02-27 Sumanta Das, Mehar Chand Sharma, Vaishali Suri, Saumya Sahu, Ajay Garg, Rajinder Kumar Laythalling
Adamantinomatous craniopharyngioma is a grade 1 tumor that arises in a sellar/suprasellar location. Despite being a grade 1 tumor, there is high recurrence and endocrinal insufficiency. Malignancy arising in craniopharyngioma is extremely rare, has a dismal prognosis, and is currently not included as a separate entity in the World Health Organization Classification of Central Nervous System 5th edition
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An autopsy case of MV 2K + C subtype of Creutzfeldt–Jakob disease Neuropathology (IF 2.3) Pub Date : 2024-02-14 Akiko Uchino, Yuko Saito, Sho Tokuda, Yagishita Saburo, Shigeo Murayama, Kazuko Hasegawa
Methionine/valine (MV) 2 type of sporadic Creutzfeldt–Jakob (sCJD) is divided into three subtypes based on neuropathological criteria: MV2-kuru (MV2K), MV2-cortical (MV2C), and MV2K + C, exhibiting the co-occurrence of these two pathological features. We report an autopsy case of MV2K + C subtype of sCJD. A 46-year-old Japanese man began to make mistakes at work. Two months later, he gradually developed
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Corticobasal degeneration with visual hallucination as an initial symptom: A case report Neuropathology (IF 2.3) Pub Date : 2024-01-30 Kentaro Yoshida, Tadashi Adachi, Yuki Suzuki, Mayuko Sakuwa, Hiroki Fukuda, Masato Hasegawa, Yoshiki Adachi, Hiroshi Miura, Ritsuko Hanajima
Although the initial symptoms of corticobasal degeneration (CBD) are varied, psychiatric symptoms are uncommon. Here, we report the autopsy findings of a patient with early CBD who presented with hallucinations. A 68-year-old man developed memory loss and visions of bears and insects. Because of slow vertical eye movement, postural instability, and levodopa-unresponsive parkinsonism, the patient initially
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Giant cell glioblastoma with lipogenic differentiation in a patient with neurofibromatosis type 1: A case report Neuropathology (IF 2.3) Pub Date : 2024-01-10 Masayuki Shintaku, Tetsuo Hashiba, Masahiro Nonaka, Akio Asai, Koji Tsuta
A 45-year-old woman with neurofibromatosis type 1 (NF1) developed a tumor in the left frontal lobe that showed features of giant cell glioblastoma (GC-GB). In addition to the typical GC-GB features, the tumor showed lipogenic differentiation, with many atypical lipoblasts and mature adipocytes. Tumor cells, including the lipogenic cells, were immunoreactive for GFAP, S-100 protein, ATRX, and p53. They
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A case of disseminated spinal astroblastoma harboring a MAMLD1::BEND2 fusion Neuropathology (IF 2.3) Pub Date : 2023-12-21 Erin N. Walker, Maxwell T. Laws, Francesca Cozzi, Martha Quezado, Desmond A. Brown, Eric C. Burton
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
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Pituitary apoplexy in endocrinologically silent adenoma during somatostatin analog administration for pancreatic neuroendocrine tumor: A case report Neuropathology (IF 2.3) Pub Date : 2023-12-15 Keitaro Shiraishi, Takuya Akai, Takahiro Tomita, Ryuji Hayashi, Takashi Minamisaka, Satoshi Kuroda
A dopamine agonist administered for prolactinoma treatment and pituitary stimulation tests are reported as risk factors for pituitary apoplexy. We report a case of an 82-year-old patient who suffered from pituitary apoplexy in an endocrinologically silent adenoma during lanreotide administration. The patient was diagnosed with a pancreatic neuroendocrine tumor with lymph node metastasis and treated
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Expression and distribution of hypoxia-inducible factor-1α and vascular endothelial growth factor in comparison between radiation necrosis and tumor tissue in metastatic brain tumor: A case report Neuropathology (IF 2.3) Pub Date : 2023-12-08 Fugen Takagi, Motomasa Furuse, Hiroko Kuwabara, Akihiro Kambara, Naoki Omura, Shogo Tanabe, Ryokichi Yagi, Ryo Hiramatsu, Masahiro Kameda, Naosuke Nonoguchi, Shinji Kawabata, Toshihiro Takami, Shin-Ichi Miyatake, Masahiko Wanibuchi
We report the case of a 70-year-old woman with metastatic brain tumors who underwent surgical removal of the tumor and radiation necrosis. The patient had a history of colon cancer and had undergone surgical removal of a left occipital tumor. Histopathological evaluation revealed a metastatic brain tumor. The tumor recurred six months after surgical removal, followed by whole-brain radiotherapy, and
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A retrospective analysis of practical benefits and caveats of the new WHO 2021 central nervous system tumor classification scheme in low-resource settings: “A perspective from low- and middle-income countries” Neuropathology (IF 2.3) Pub Date : 2023-11-29 Yazgı Köy, Onur Ceylan, Aslı Kahraman, Sibel Cangi, Sevilay Özmen, Tarık Tihan
The revised classification of tumors of the central nervous system (CNS) by the World Health Organization (WHO) in 2021 was hailed as a major advance and improvement in the management of brain tumor patients. However, the increased reliance on sophisticated technology and molecular analysis posed a major challenge to healthcare systems in low- and middle-income countries. A few recent publications
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Cervical myelopathy and extensive body destruction caused by primary Gli1 fusion sarcoma Neuropathology (IF 2.3) Pub Date : 2023-11-20 Ching-Ying Wang, Yi-Lin Chu, Shih-Chieh Lin, Chih-Chun Wu, Wen-Cheng Huang, Chao-Hung Kuo
Sarcomas of the cervical spine with osteolytic lesions and intradural extension are extremely uncommon. This is a case report of a woman in her late 30s who had experienced numbness and gradual weakness of her four limbs. MRI with enhanced T1-weighted contrast showed a heterogeneously enhancing intradural extramedullary mass lesion over C2–C4 levels compressing the spinal cord. Over the corresponding
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Primary central nervous system extranodal NK/T-cell lymphoma, nasal type with CD20 expression: Case report and review of the literature Neuropathology (IF 2.3) Pub Date : 2023-11-14 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
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A rare encounter: Comprehensive case review of myxoid meningiomas with a representative case Neuropathology (IF 2.3) Pub Date : 2023-11-12 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
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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 Neuropathology (IF 2.3) Pub Date : 2023-11-07 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
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Ependymoma-like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge Neuropathology (IF 2.3) Pub Date : 2023-11-06 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
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SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report Neuropathology (IF 2.3) Pub Date : 2023-11-02 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
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Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations Neuropathology (IF 2.3) Pub Date : 2023-11-02 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
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Strong OLIG2 expression in supratentorial ependymoma, ZFTA fusion-positive: A potential diagnostic pitfall Neuropathology (IF 2.3) Pub Date : 2023-10-19 João Victor Alves de Castro, Leslie Domenicki Kulikowski, Beatriz Martins Wolff, Renato Natalino, Dirce Maria Carraro, Giovana Tardin Torrezan, Cristovam Scapulatempo Neto, Camila Trolez Amancio, Felipe Sales Nogueira Amorim Canedo, Olavo Feher, Felipe D'Almeida Costa
Ependymomas (EPN) are central nervous system neoplasms that exhibit an ependymal phenotype. In particular, supratentorial EPN (ST-EPN) must be differentiated from more aggressive entities such as glioblastoma, IDH-wildtype. This task is frequently addressed with the use of immunohistochemistry coupled with clinical presentation and morphological features. Here we describe the case of a young adult
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A case of a pilocytic astrocytoma with histological features of anaplasia and unprecedent genetic alterations Neuropathology (IF 2.3) Pub Date : 2023-10-01 Mayuko Moritsubo, Takuya Furuta, Tetsuya Negoto, Hideo Nakamura, Yusuke Uchiyama, Motohiro Morioka, Koichi Oshima, Yasuo Sugita
We report a case of pediatric glioma with uncommon imaging, morphological, and genetic features. A one-year-old boy incidentally presented with a tumor in the fourth ventricle. The tumor was completely resected surgically and investigated pathologically. The mostly circumscribed tumor had piloid features but primitive and anaplastic histology, such as increasing cellularity and mitosis. The Ki-67 staining
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Increased expression of leucine-rich α-2 glycoprotein 1 as a predictive biomarker of favorable progression-free survival in meningioma Neuropathology (IF 2.3) Pub Date : 2023-09-25 Mayuko Moritsubo, Takuya Furuta, Junko Miyoshi, Satoru Komaki, Kiyohiko Sakata, Hiroaki Miyoshi, Motohiro Morioka, Koichi Ohshima, Yasuo Sugita
Most meningiomas, which are frequent central nervous system tumors, are classified as World Health Organization (WHO) grade 1 because of their slow-growing nature. However, the recurrence rate varies and is difficult to predict using conventional histopathological diagnoses. Leucine-rich α-2 glycoprotein 1 (LRG1) is involved in cell signal transduction, cell adhesion, and DNA repair and is a predictive
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Correction to “Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C > T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions” Neuropathology (IF 2.3) Pub Date : 2023-09-25
Sakai K, Ishida C, Hayashi K et al. Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C > T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions. Neuropathology 2022; 42: 126–133. ‘c.902C > T' in the article title should be ‘c.920C > T'. The correct article title is shown below: Familial idiopathic basal ganglia calcification with a heterozygous missense
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Correction to “MicroRNA-221 targeting PI3-K/Akt signaling axis induces cell proliferation and BCNU resistance in human glioblastoma” Neuropathology (IF 2.3) Pub Date : 2023-09-20
Xie Q, Yan Y, Huang Z, et al. MicroRNA-221 targeting PI3-K/Akt signaling axis induces cell proliferation and BCNU resistance in human glioblastoma. Neuropathology 2014; 34, 455–464. The authors found an error in Figure 4B. The revised figure is shown below: We apologize for this error.
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Atypical TDP-43 proteinopathy clinically presenting with progressive nonfluent aphasia: A case report Neuropathology (IF 2.3) Pub Date : 2023-09-17 Yuki Suzuki, Tadashi Adachi, Kentaro Yoshida, Kenta Taneda, Mayuko Sakuwa, Masato Hasegawa, Ritsuko Hanajima
Progressive nonfluent aphasia (PNFA) is a form of frontotemporal lobar degeneration (FTLD) caused by tau and transactive response DNA-binding protein of 43 kDa (TDP-43) accumulation. Here we report the autopsy findings of a 64-year-old right-handed man with an atypical TDP-43 proteinopathy who presented with difficulties with speech, verbal paraphasia, and dysphagia that progressed over the 36 months
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Primary cauda equina lymphoma confirmed by autopsy: A case report Neuropathology (IF 2.3) Pub Date : 2023-08-28 Keisuke Ishizawa, Takashi Komori, Rui Shimazaki, Yasuhiro Nakata, Jun-ichi Tamaru, Atsushi Sasaki, Kazushi Takahashi
Compared with those involving the central nervous system, lymphomas involving the peripheral nervous system, namely neurolymphomatosis, are extremely rare. Neurolymphomatosis is classified as primary or secondary; the former is much rarer than the latter. Herein, we present an autopsied case of primary cauda equina lymphoma (PCEL), a type of primary neurolymphomatosis, with a literature review of autopsied
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Neuropil-like islands are a possible pathogenetic link between glioblastoma and gangliocytoma/ganglioglioma in a case of synchronous bilateral brain tumors Neuropathology (IF 2.3) Pub Date : 2023-08-28 Keisuke Ishizawa, Jun-ichi Adachi, Jun-ichi Tamaru, Ryo Nishikawa, Kazuhiko Mishima, Atsushi Sasaki
Neuropil-like islands (NIs) are a histologic hallmark of glioneuronal tumors with neuropil-like islands (GTNIs), but GTNIs are presently not considered a homogeneous entity. The essence of GTNI is likely its glial component, and NIs are now considered aberrant neuronal differentiation or metaplasia. The case we report herein is a 41-year-old woman who was synchronously affected by two brain tumors:
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An autopsy case of intravascular large B-cell lymphoma showing a rapid transition to embolic strokes with occlusion of the major cerebral arteries Neuropathology (IF 2.3) Pub Date : 2023-08-10 So Tando, Tadashi Kimura, Ryo Mizuhara, Natsuko Yuki, Akira Yoshioka, Hisashi Takahashi, Rei Yasuda, Kyoko Itoh
Intravascular large B-cell lymphoma can induce central nervous system manifestations, including strokes, due to small-vessel occlusion caused by lymphoma cells. However, involvement in large-sized vessels is rare. Here, we present an unusual autopsy case of an 88-year-old man showing a rapid transition from multiple strokes due to small vessel occlusion, typical of intravascular lymphoma, to progressive
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Senile plaque-associated transactive response DNA-binding protein 43 in Alzheimer's disease: A case report spanning 16 years of memory loss Neuropathology (IF 2.3) Pub Date : 2023-07-31 Arenn F. Carlos, Shunsuke Koga, Neill R. Graff-Radford, Matthew C. Baker, Rosa Rademakers, Owen A. Ross, Dennis W. Dickson, Keith A. Josephs
Transactive response DNA-binding protein 43 (TDP-43) pathological inclusions are found in frontotemporal lobar degeneration (FTLD-TDP) and Alzheimer's disease (AD-TDP). While clinically different, TDP-43 inclusions in FTLD-TDP and AD can have similar morphological characteristics. However, TDP-43 colocalizing with tau and forming “apple-bite” or “flame-shaped” neuronal cytoplasmic inclusions (NCI)
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Retrospective neuropathological diagnosis of TDP-43 proteinopathies: Factors affecting immunoreactivity of phosphorylated TDP-43 in fixed post-mortem brain tissue. Neuropathology (IF 2.3) Pub Date : 2023-08-01 Andrew C Robinson,Yvonne S Davidson,James Minshull,Imogen Lally,Liam Walker,David M A Mann,Federico Roncaroli
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Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa Neuropathology (IF 2.3) Pub Date : 2023-07-19 Zhenyu Li, Yize Li, Xujun Chu, Kang Du, Yuwei Tang, Zhiying Xie, Meng Yu, Jianwen Deng, He Lv, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
The mutations of the feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1-associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth
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Multisystem pathology in McLeod syndrome Neuropathology (IF 2.3) Pub Date : 2023-07-12 Katherine R. Schon, Dominic G. O'Donovan, Mayen Briggs, James B. Rowe, Lokesh Wijesekera, Patrick F. Chinnery, Jelle van den Ameele
We present a comprehensive characterization of clinical, neuropathological, and multisystem features of a man with genetically confirmed McLeod neuroacanthocytosis syndrome, including video and autopsy findings. A 61-year-old man presented with a movement disorder and behavioral change. Examination showed dystonic choreiform movements in all four limbs, reduced deep-tendon reflexes, and wide-based
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Epstein–Barr virus-positive monoclonal lymphoplasmacytic proliferation associated with neurosyphilis in an immunocompetent patient: A case report Neuropathology (IF 2.3) Pub Date : 2023-07-09 Takashi Hibiya, Kiyotaka Nagahama, Yoshie Matsumoto, Kuniaki Saito, Nobuyoshi Sasaki, Keiichi Kobayashi, Akiyasu Otsu, Teppei Shimasaki, Kengo Takeuchi, Yoshiaki Shiokawa, Motoo Nagane, Junji Shibahara
Syphilis is an infectious disease caused by the spirochete bacterium Treponema pallidum. Neurosyphilis results from the infection of the nervous system with Treponema pallidum, which can occur at any stage of syphilis. Neurosyphilis is often overlooked because of its rarity. Early-stage neurosyphilis with brain mass formation is rare. We present a case of early-stage neurosyphilis with prominent Epstein–Barr
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Pathology for severe inflammatory PML with PD1/PD-L1 expression of favorable prognosis: What's a prognostic factor for PML-IRIS? Neuropathology (IF 2.3) Pub Date : 2023-07-09 Yukiko Shishido-Hara, Jiro Akimoto, Shinjiro Fukami, Michihiro Kohno, Jun Matsubayashi, Toshitaka Nagao
A 72-year-old woman with dermatomyositis (DM) developed neurological manifestation, and magnetic resonance imaging (MRI) revealed multiple T2/fluid-attenuated inversion recovery (FLAIR)-hyperintense lesions predominantly in the deep white matter of the cerebral hemisphere. Punctate or linear contrast enhancement was observed surrounding the T1-hypointense area. Multiple T2/FLAIR-hyperintense lesions
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Documented growth of an intracranial capillary hemangioma: A case report Neuropathology (IF 2.3) Pub Date : 2023-07-04 Abigale D. MacLellan, Alexander S. Easton, Rufus Alubankudi, Gwynedd E. Pickett
Intracranial capillary hemangiomas in adults are rare, and diagnosis can be challenging. Hemangiomas, in general (and particularly in the skin), are more often noted in the pediatric population. Due to the lack of imaging undertaken in the presymptomatic phase, the literature provides few clues on the rate of growth of these unusual tumors. Therefore, we report a case of a 64-year-old man with a medical
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O6-methylguanine methyltransferase promoter methylation status of glioblastoma cell line clonal population Neuropathology (IF 2.3) Pub Date : 2023-06-29 Mitsuhiro Anan, Rolando Fausto Del Maestro, Nobuhiro Hata, Minoru Fujiki
Glioblastoma (GBM) remains a treatment-resistant malignant brain tumor in large part because of its genetic heterogeneity and epigenetic plasticity. In this study, we investigated the epigenetic heterogeneity of GBM by evaluating the methylation status of the O6-methylguanine methyltransferase (MGMT) promoter in individual clones of a single cell derived from GBM cell lines. The U251 and U373 GBM cell
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Balamuthia mandrillaris amoebic encephalitis mimicking tuberculous meningitis Neuropathology (IF 2.3) Pub Date : 2023-06-28 Yoya Ono, Kazuhiro Higashida, Kanako Yamanouchi, Shusuke Nomura, Yuki Hanamatsu, Chiemi Saigo, Nobuyuki Tetsuka, Takayoshi Shimohata
A 76-year-old female with no apparent immunosuppressive conditions and no history of exposure to freshwater and international travel presented with headache and nausea 3 weeks before the presentation. On admission, her consciousness was E4V4V6. Cerebrospinal fluid analysis showed pleocytosis with mononuclear cell predominance, elevated protein, and decreased glucose. Despite antibiotic and antiviral
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Erdheim-Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature Neuropathology (IF 2.3) Pub Date : 2023-06-26 Merve Aktan Suzgun, Elif Everest, Selin Kucukyurt, Melih Tutuncu, Ugur Uygunoglu, Ahmet Emre Eskazan, Ugur Ture, Herbert Budka, Aydin Sav, Aksel Siva
Erdheim-Chester disease is a non-Langerhans cell histiocytosis syndrome characterised by histiocytic infiltration of different organs and systems in the body. Erdheim-Chester disease with isolated central nervous system (CNS) involvement causes diagnostic difficulties due to the absence of systemic findings and may result in misdiagnosis and inaccurate treatment choices. The case discussed in this
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Astrocytes in ischemic stroke: Crosstalk in central nervous system and therapeutic potential Neuropathology (IF 2.3) Pub Date : 2023-06-21 Jueling Liu, Yuying Guo, Yunsha Zhang, Xiaoxiao Zhao, Rong Fu, Shengyu Hua, Shixin Xu
In the central nervous system (CNS), a large group of glial cells called astrocytes play important roles in both physiological and disease conditions. Astrocytes participate in the formation of neurovascular units and interact closely with other cells of the CNS, such as microglia and neurons. Stroke is a global disease with high mortality and disability rate, most of which are ischemic stroke. Significant
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Ribosomal protein SA is a common component of neuronal intranuclear inclusions in polyglutamine diseases and Marinesco bodies Neuropathology (IF 2.3) Pub Date : 2023-06-21 Kaoru Yagita, Shoko Sadashima, Sachiko Koyama, Hideko Noguchi, Hideomi Hamasaki, Naokazu Sasagasako, Hiroyuki Honda
Neuronal intranuclear inclusions (NIIs) are common key structures in polyglutamine (polyQ) diseases such as Huntington disease (HD), spinocerebellar ataxia type 1 (SCA1), and SCA3. Marinesco bodies (MBs) of dopaminergic neurons in the substantia nigra are also intranuclear structures and are frequently seen in normal elderly people. Ribosomal dysfunction is closely related to two differential processes;
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Prednisolone improves hippocampal regeneration after trimethyltin-induced neurodegeneration in association with prevention of T lymphocyte infiltration Neuropathology (IF 2.3) Pub Date : 2023-06-08 Masashi Sakurai, Miki Takenaka, Yuki Mitsui, Yusuke Sakai, Masahiro Morimoto
The endogenous regenerative capacity of the brain is quite weak; however, a regenerative reaction, the production of new neurons (neurogenesis), has been reported to occur in brain lesions. In addition, leukocytes are well known to infiltrate brain lesions. Therefore, leukocytes would also have a link with regenerative neurogenesis; however, their role has not been fully elucidated. In this study,
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Pituitary tuberculoma with panhypopituitarism masquerading as a pituitary adenoma Neuropathology (IF 2.3) Pub Date : 2023-05-30 Adil Aziz Khan, Sana Ahuja, Shaivy Malik, Saba Naaz, Sufian Zaheer
Tuberculosis of the hypothalamo–pituitary axis is extremely uncommon. The presentation of panhypopituitarism in a case of sellar tuberculosis is an even rarer occurrence. We present a case of a 44-year-old man who presented with complaints of headache and right-sided diminution of vision for six months. A hormone profile showed abnormal anterior pituitary assay suggestive of panhypopituitarism. Magnetic
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An autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129 Neuropathology (IF 2.3) Pub Date : 2023-05-30 Akiko Uchino, Yuko Saito, Saori Oonuma, Shigeo Murayama, Saburo Yagishita, Tetsuyuki Kitamoto, Kazuko Hasegawa
The typical clinical manifestations of sporadic Creutzfeldt-Jakob disease (sCJD) are rapid-progressive dementia and myoclonus. However, the diagnosis of atypical sCJD can be challenging due to its wide phenotypic variations. We report an autopsy case of variably protease-sensitive prionopathy (VPSPr) with Met/Met homogeneity at codon 129. An 81-year-old woman presented with memory loss without motor
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MYCN amplification in spinal ependymoma: A five-year retrospective study Neuropathology (IF 2.3) Pub Date : 2023-05-23 Shilpa Rao, Harsha Sugur, Subhas Konar, Arimappamagan Arivazhagan, Vani Santosh
Spinal ependymoma with MYCN amplification is a newly recognized type of spinal ependymoma that is known to be associated with poor prognosis. Available studies on this relatively rare tumor type have observed that these tumors tend to disseminate along the spinal cord and behave aggressively with worse overall and progression-free survival compared to the other types of ependymoma. In this study, we
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Hyaline protoplasmic astrocytopathy in epilepsy Neuropathology (IF 2.3) Pub Date : 2023-05-17 Shino Magaki, Mohammad Haeri, Linda J. Szymanski, Zesheng Chen, Ramiro Diaz, Christopher K. Williams, Julia W. Chang, Yan Ao, Kathy L. Newell, Negar Khanlou, William H. Yong, Aria Fallah, Noriko Salamon, Tarek Daniel, Jennifer Cotter, Debra Hawes, Michael Sofroniew, Harry V. Vinters
Hyaline protoplasmic astrocytopathy (HPA) describes a rare histologic finding of eosinophilic, hyaline cytoplasmic inclusions in astrocytes, predominantly in the cerebral cortex. It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal cortical dysplasia (FCD), but the nature and significance of these inclusions are unclear. In this
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Comments on an autopsy case of progressive supranuclear palsy treated with monoclonal antibody against tau. Neuropathology (IF 2.3) Pub Date : 2023-05-16 Shunsuke Koga,Dennis W Dickson,Zbigniew K Wszolek
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V180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain Neuropathology (IF 2.3) Pub Date : 2023-05-10 Midori Watanabe, Kosei Nakamura, Rie Saito, Atsuko Takeuchi, Tetsuya Takahashi, Tetsuyuki Kitamoto, Osamu Onodera, Akiyoshi Kakita
Genetic Creutzfeldt-Jakob disease (gCJD) with a V180I mutation (V180I gCJD) is the most common type of gCJD in Japan, characterized by an older age at onset, slower progression, and moderate to severe cortical degeneration with spongiform changes and sparing of the brainstem and cerebellum. Degeneration of the inferior olivary nucleus (IO) is rarely observed in patients with CJD but is known to occur
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Granular cell tumor of the neurohypophysis presenting as a third ventricle mass Neuropathology (IF 2.3) Pub Date : 2023-05-05 Gianluca Lopez, Carlo Pescia, Carlo Galli, Manuela Bramerio, Antonella Tosoni, Manuela Nebuloni, Mariarosa Ferrara, Giulio Bertani, Luca Caschera, Fabio Maria Triulzi, Marco Locatelli, Silvia Tabano, Giorgio Alberto Croci
Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive low-grade neoplasms of the posterior pituitary gland. GCT usually present as a solid sellar mass, slowly growing and causing compressive symptoms over time, occasionally with suprasellar extension. They comprise polygonal monomorphous
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Polyglucosan body disease in an aged chimpanzee (Pan troglodytes) Neuropathology (IF 2.3) Pub Date : 2023-04-21 Sanjeev Gumber, Fawn Connor-Stroud, Dustin Howard, Xiaodong Zhang, Brenda J. Bradley, Chet C. Sherwood, Lary C. Walker
A 57-year-old female chimpanzee presented with a brief history of increasing lethargy and rapidly progressive lower-limb weakness that culminated in loss of use. Postmortem examination revealed no significant gross lesions in the nervous system or other organ systems. Histological analysis revealed round, basophilic to amphophilic polyglucosan bodies (PGBs) in the white and gray matter of the cervical
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Engeletin ameliorates sevoflurane-induced cognitive impairment by activating PPAR-gamma in neonatal mice Neuropathology (IF 2.3) Pub Date : 2023-04-10 Su Jiang, Ying Xiong, Xinyan Wang
Sevoflurane (SEV) is a commonly used anesthetic in pediatric surgery. Recent studies reported that repeated use of SEV contributes to cognitive impairment. Engeletin has been discovered to exert anti-inflammatory effects in various diseases. However, the detailed roles and mechanisms of engeletin in SEV-induced cognitive dysfunction of neonatal mice remain unclear. In this study, C57BL/6 neonatal mice
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A rare case of primary neuroendocrine carcinoma of the central nervous system Neuropathology (IF 2.3) Pub Date : 2023-04-03 Adil Aziz Khan, Sana Ahuja, Sufian Zaheer
Primary neuroendocrine carcinoma (NEC) of the brain is an extremely rare presentation, with only a few previous case reports. We describe a primary NEC arising from the left parieto-occipital lobe. The 55-year-old patient presented with complaints of headache and dizziness for the preceding 7 months. Magnetic resonance imaging revealed a large ill-defined mass in the left parieto-occipital lobe, with