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Journals Neuropathology : Official Jour...

Neuropathology : Official Journal of the Japanese Society of Neuropathology

https://read.qxmd.com/read/38775061/ask1-activation-in-glial-cells-in-post-mortem-multiple-sclerosis-tissue
#1
JOURNAL ARTICLE
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...
May 22, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38736183/somatic-mutational-profiling-and-clinical-impact-of-driver-genes-in-latin-iberian-medulloblastomas-towards-precision-medicine
#2
JOURNAL ARTICLE
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...
May 12, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38715398/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
#3
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...
May 7, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38639066/a-case-of-myxopapillary-ependymoma-with-predominant-giant-cell-morphology-a-rare-entity-with-comprehensive-genomic-profiling-and-review-of-literature
#4
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...
April 19, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38583489/acute-respiratory-failure-caused-by-brainstem-demyelinating-lesions-in-an-older-patient-with-an-atypical-relapsing-autoimmune-disorder
#5
Shoko Hongo, Hiroshi Shimizu, Etsuji Saji, Akihiro Nakajima, Kouichirou Okamoto, Izumi Kawachi, Osamu Onodera, Akiyoshi Kakita
An 84-year-old man presented with somnolence, dysphagia, and right hemiplegia, all occurring within a month, approximately one year after initial admission due to subacute, transient cognitive decline suggestive of acute disseminated encephalomyelitis involving the cerebral white matter. Serial magnetic resonance imaging (MRI) studies over that period revealed three high-intensity signal lesions on fluid-attenuated inversion recovery images, appearing in chronological order in the left upper and left lower medulla oblongata and left pontine base...
April 7, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38581197/rare-dual-genotype-idh-mutant-glioma-review-of-previously-reported-cases-and-two-new-cases-of-true-oligoastrocytoma
#6
Isabella Sutherland, John DeWitt, Alissa Thomas
In 2016, the World Health Organization (WHO) eliminated "oligoastrocytoma" from the classification of central nervous system (CNS) tumors, in favor of an integrated histologic and molecular diagnosis. Consistent with the 2016 classification, in the 2021 classification, oligodendrogliomas are defined by mutations in isocitrate dehydrogenase (IDH) with concurrent 1p19q codeletion, while astrocytomas are IDH mutant tumors, usually with ATRX loss. In 2007, a 24-year-old man presented with a brain tumor histologically described as astrocytoma, but with molecular studies consistent with an oligodendroglioma, IDH mutant and 1p19q-codeleted...
April 6, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38566440/association-between-hypothalamic-alzheimer-s-disease-pathology-and-body-mass-index-the-hisayama-study
#7
JOURNAL ARTICLE
Kaoru Yagita, Hiroyuki Honda, Tomoyuki Ohara, Sachiko Koyama, Hideko Noguchi, Yoshinao Oda, Ryo Yamasaki, Noriko Isobe, Toshiharu Ninomiya
The hypothalamus is the region of the brain that integrates the neuroendocrine system and whole-body metabolism. Patients with Alzheimer's disease (AD) have been reported to exhibit pathological changes in the hypothalamus, such as neurofibrillary tangles (NFTs) and amyloid plaques (APs). However, few studies have investigated whether hypothalamic AD pathology is associated with clinical factors. We investigated the association between AD-related pathological changes in the hypothalamus and clinical pictures using autopsied brain samples obtained from deceased residents of a Japanese community...
April 2, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38558069/clinicopathological-study-of-dementia-with-grains-presenting-with-parkinsonism-compared-with-a-typical-case
#8
Akira Arakawa, Ryoji Goto, Mana Higashihara, Yuko Hiroyoshi, Ayako Shioya, Manato Hara, Makoto Orita, Tomoyasu Matsubara, Renpei Sengoku, Masashi Kameyama, Aya M Tokumaru, Masato Hasegawa, Tatsushi Toda, Atsushi Iwata, Shigeo Murayama, Yuko Saito
Argyrophilic grain disease (AGD) is one of the major pathological backgrounds of senile dementia. Dementia with grains refers to cases of dementia for which AGD is the sole background pathology responsible for dementia. Recent studies have suggested an association between dementia with grains and parkinsonism. In this study, we aimed to present two autopsy cases of dementia with grains. Case 1 was an 85-year-old man who exhibited amnestic dementia and parkinsonism, including postural instability, upward gaze palsy, and neck and trunk rigidity...
April 1, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38548480/primary-rosai-dorfman-disease-of-the-central-nervous-system-a-clinical-histological-and-molecular-appraisal
#9
JOURNAL ARTICLE
Mayur Parkhi, Debajyoti Chatterjee, Dharambir Kashyap, Ashish Aggarwal, Bishan Radotra
Rosai-Dorfman disease (RDD) is characterized by clonal proliferation of S-100 positive histiocytes and variable emperipolesis. It commonly affects cervical lymph nodes. Central nervous system (CNS) involvement is extremely rare. We attempted to evaluate the Cyclin D1 expression and frequency of KRAS and BRAF mutations in the RDD involving the CNS. All patients with histopathologically diagnosed RDD involving CNS were recruited from 2011 to 2022. All cases were subjected to immunohistochemistry for CD68, CD163, S100, CD1a, GFAP, CD207, EMA, ALK, BRAFV600E, IgG4, IgG, and CyclinD1...
March 28, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38477063/the-predominance-of-astrocytic-intranuclear-inclusions-in-neuronal-intranuclear-inclusion-disease-manifesting-encephalopathy-like-symptoms-a-case-series-with-brain-biopsy
#10
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" intranuclear inclusions (AIIs). Case 1 presented with paroxysmal restlessness, vertigo, or fever and was later involved in severe dementia and tetraparesis...
March 13, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38477051/in-house-molecular-diagnosis-of-diffuse-glioma-updating-the-revised-who-classification-by-a-platform-of-the-advanced-medical-care-system-senshin-iryo
#11
JOURNAL ARTICLE
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 over a total 5 years of achievements using this platform. Analyses of IDH, BRAF, and H3 point mutations, loss of heterozygosity (LOH) on 1p/19q and chromosomes 10 and 17, and MGMT methylation were combined into a set that was submitted to Senshin-Iryo as "Drug resistance gene testing for anticancer chemotherapy" and was approved in August 2018...
March 13, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38448392/neuropilin-1-enhances-temozolomide-resistance-in-glioblastoma-via-the-stat1-p53-p21-axis
#12
JOURNAL ARTICLE
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 TMZ resistance in GBM. The parental U251 and LN229 GBM cells were exposed to increasing concentrations of TMZ to construct TMZ-resistant GBM cells (U251/TMZ, LN229/TMZ)...
March 6, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38444347/from-pathological-mechanisms-in-krabbe-disease-to-cutting-edge-therapy-a-comprehensive-review
#13
REVIEW
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 unearthed additional novel elements in molecular biology involving the micropathological mechanism of the disease...
March 6, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38430007/hemorrhage-from-metastatic-brain-epithelioid-hemangioendothelioma-a-case-report
#14
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, a screening brain MRI had revealed multiple brain metastases of tumor. He developed subcortical hemorrhage from the tumor in the right parietal lobe and successfully underwent removal of hematoma and tumor...
March 2, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38414131/collision-tumor-multinodular-and-vacuolating-neuronal-tumor-with-isocitrate-dehydrogenase-mutant-diffuse-astrocytoma
#15
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 and subcortical white matter of the left middle frontal gyrus. Additionally, tiny clustered nodules were noted along the underlying subcortical ribbon and superficial subcortical white matter of the left superior frontal gyrus...
February 27, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38410881/malignancy-arising-in-adamantinomatous-craniopharyngioma-report-of-a-rare-case-with-unusual-morphologic-features
#16
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. Here we describe a case of adamantinomatous craniopharyngioma and its malignant counterpart. The malignant part had unique histomorphology and basaloid cells with pseudoglandular architecture and a myxoid background...
February 27, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/37717977/atypical-tdp-43-proteinopathy-clinically-presenting-with-progressive-nonfluent-aphasia-a-case-report
#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 prior to his death. He did not show pyramidal tract signs until his death. At autopsy, macroscopic brain examination revealed atrophy of the left dominant precentral, superior, and middle frontal gyri and discoloration of the putamen...
April 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/37469134/novel-mutations-in-flvcr1-cause-tremors-sensory-neuropathy-with-retinitis-pigmentosa
#18
JOURNAL ARTICLE
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 decade. While retinitis pigmentosa and sensory ataxia are well-recognized features of FLVCR1-associated disease, tremor is rarely described...
April 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/37438874/multisystem-pathology-in-mcleod-syndrome
#19
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 gait. He had oromandibular dyskinesia causing severe dysphagia. Elevated serum creatinine kinase (CK) was first noted in his thirties, but investigations, including muscle biopsy at that time, were inconclusive...
April 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/38409890/spinal-astroblastoma-mn1-altered-in-3-year-old-child-an-uncommon-tumor-at-an-unusual-site
#20
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 reported in the literature. A vigilant microscopy and ancillary testing aid in diagnosis when the tumors present in unusual locations, as in our case...
February 26, 2024: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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