Neuropathology最新文献

{"title":"Solitary fibrous tumor of the central nervous system with epithelioid neuroendocrine \"Transdedifferentiation\": A case report and review of the literatures.","authors":"Shazia Bokhari, Michael J Hwang, X Robert Zhang, Meenakshi B Bhattacharjee, Hidehiro Takei","doi":"10.1111/neup.13022","DOIUrl":"10.1111/neup.13022","url":null,"abstract":"<p><p>Solitary fibrous tumors (SFTs) of the central nervous system (CNS) are rare mesenchymal tumors characterized by a fusion of the NGFI-A-binding protein 2 (NAB2) gene and the signal transducer and activator of transcription 6 (STAT6) gene, immunohistochemically resulting in nuclear expression of STAT6 - an immunohistochemical hallmark essential for diagnosis, as outlined in the fifth edition of the World Health Organization Classification of Tumors. Dedifferentiation, where low-grade tumors transform into high-grade forms, has been observed in SFTs, with documented cases involving sarcomatous or rarely epithelial transformations. We report the first case of a CNS SFT exhibiting \"transdedifferentiation\" into epithelioid neuroendocrine differentiation. A 36-year-old woman presented with worsening frontal headaches and vision deterioration due to an 8.2-cm frontal tumor with skull erosion. Histologically, the tumor consisted of predominantly high-grade undifferentiated epithelioid round cells that expressed STAT6, along with multifocal synaptophysin and chromogranin A positivity, and occasional cytokeratin and claudin-4 reactivity, resembling large cell neuroendocrine carcinoma. A minor bland spindle cell component with STAT 6 immunoreactivity was also noted. This case highlights the rare occurrence of neuroendocrine \"transdedifferentiation\" in CNS SFTs. This case highlights the importance of recognizing dedifferentiation in CSF SFTs, which often correlates with aggressive tumor behavior and poor prognosis. Given the rarity of neuroendocrine \"transdedifferentiation,\" this case adds valuable insight into the diverse dedifferentiation patterns seen in CNS SFTs, emphasizing the need for accurate diagnosis to guide appropriate treatment strategies.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"248-256"},"PeriodicalIF":1.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A glioneuronal tumor with neurocytic rosettes harboring FGFR1 internal tandem duplication - A report of a unique case.","authors":"Jiri Soukup, Nikola Hajkova, Veronika Hajkova, Marian Svajdler, David Netuka, Martin Majovsky","doi":"10.1111/neup.13018","DOIUrl":"10.1111/neup.13018","url":null,"abstract":"<p><p>Rosette-forming glioneuronal tumors (RGNTs) with FGFR1 tyrosine kinase domain internal tandem duplication (FGFR1 ITD) is exceedingly rare, with only a few cases reported in the literature. Hereby we present a case of a tumor with RGNT morphology occurring in area of septum pellucidum of 43-year-old male. The tumor showed FGFR1 ITD, no PIK3CA, PIK3R1 or NF1 alterations and inconclusive methylation profile with match for class of \"low-grade glial/glioneuronal/neuroepithelial tumors\". No areas characteristic of dysembryoplastic neuroepithelial tumor were identified. A brief review of literature on discrepancies between morphological diagnosis of RGNT and molecular profile of the entity is provided.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"234-240"},"PeriodicalIF":1.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilizing quantitative susceptibility mapping to differentiate primary lateral sclerosis from progressive supranuclear palsy: A case report.","authors":"Hiroaki Sekiya, Ryota Satoh, Farwa Ali, Dennis W Dickson, Jennifer L Whitwell, Keith A Josephs","doi":"10.1111/neup.13015","DOIUrl":"10.1111/neup.13015","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"223-227"},"PeriodicalIF":1.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intracellular and Extracellular Localization of Transthyretin and Its Association With Amyloid-β in Alzheimer's Disease Brains.","authors":"Yuri Mizuno, Hiroyuki Honda, Hideko Noguchi, Sachiko Koyama, Chie Kikutake, Toshiharu Ninomiya, Ryo Yamasaki, Noriko Isobe","doi":"10.1111/neup.70015","DOIUrl":"https://doi.org/10.1111/neup.70015","url":null,"abstract":"<p><p>Transthyretin (TTR) can bind to Aβ and prevent the formation of Aβ fibrils in vitro; it is thus a highly interesting molecule in the field of Alzheimer's disease (AD) research. However, the distribution of TTR and its affinity to Aβ in both healthy human brains and those of AD patients remain unclear. We therefore examined TTR in human brains using postmortem brain samples. Paraffin sections and extracted protein samples were prepared from AD and control (non-AD) brains. Immunohistochemistry was performed to detect TTR expression patterns, and immunofluorescent staining was used to reveal the relationships between the intracellular and extracellular localizations of TTR and Aβ. We also performed western blotting for TTR using brain extracts. In immunohistochemical staining of the human brain, TTR signal was detected not only in extracellular tissue but also in the cytoplasm of neurons and glia. The TTR-positive area was significantly greater in AD brains than in non-AD brains. However, expression of TTR transcripts did not differ between AD and non-AD brains in our previously obtained RNA-sequencing and microarray data. Immunofluorescent staining with multiple antibodies revealed that TTR was co-localized with Aβ in the cytoplasm of neurons. In extracellular Aβ plaques, TTR presented in the same region but was not co-localized with dense Aβ fibrils. Together, our results indicate that TTR is widely expressed in the human brain rather than being limited to the choroid plexus and that TTR is more abundant in AD brains. Our results also suggest that the affinity between TTR and Aβ changes depending on the structure of Aβ. Our data will be valuable for the future development of TTR-related AD preventative methods and medications.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70015"},"PeriodicalIF":1.3,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Neoplastic Lesions of the Ependyma: A Neuropathological Overview.","authors":"Masayuki Shintaku","doi":"10.1111/neup.70014","DOIUrl":"https://doi.org/10.1111/neup.70014","url":null,"abstract":"<p><p>Non-neoplastic lesions of the ependyma have been neglected to date in comparison with neoplastic lesions derived from the ependyma, that is, ependymoma. The ependyma has a simple structure: mono-layered cuboidal cells covering the surface of the cerebral ventricles and the central canal of the spinal cord. In this review, the histopathological appearances of various non-neoplastic ependymal lesions are shown based on the author's personal experience, along with a review of the relevant literature. Following the introductory remarks about the normal histology and functions of ependymal cells including tanycytes, non-neoplastic lesions are then presented including, obliteration of the spinal central canal; the \"ventriculus terminalis\"; shedding of ependymal cells and \"granular ependymitis\"; \"ependymal incorporation\"; ependymal cells in hydrocephalus; ependymal reactions to various noxious stimuli; ependymal changes in cerebral dysgenesis; infections involving ependymal cells; glio-ependymal cyst; and finally, various intracellular inclusions in ependymal cells. Non-neoplastic ependymal lesions are intriguing and merit further investigations, which may provide deeper understanding of various brain lesions and of ependymal neoplasms.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70014"},"PeriodicalIF":1.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alzheimer's Disease With Cardiac Transthyretin Amyloidosis: A Clinicopathological Study of Autopsy Cases.","authors":"Yasuo Sugita, Takuya Furuta, Kenji Takahashi, Koichi Higaki, Yoshiro Koda, Shin-Ichiro Mori, Shoko Hongo, Hideomi Hamasaki, Akiyoshi Kakita, Mitsuharu Ueda, Keisuke Kitagawa","doi":"10.1111/neup.70011","DOIUrl":"https://doi.org/10.1111/neup.70011","url":null,"abstract":"<p><p>The relationship between Alzheimer's disease and cardiac transthyretin amyloidosis (ATTR) has been reported epidemiologically. However, the details of its clinicopathological characteristics are unclear. To clarify the pathogenesis of Alzheimer's disease combined with cardiac ATTR, 50 autopsy cases of Alzheimer's disease with cardiac hypertrophy were examined. Transthyretin amyloid deposition was studied by immunostaining in cases where amyloid deposition was suspected in various organs by HE staining. ATTR in systemic organs was also examined. The pathological diagnosis of Alzheimer's disease was done based on the National Institute on Aging and Alzheimer's Association (NIA-AA) guidelines. Cerebral amyloid angiopathy (CAA) was rated on a 3-point scale according to the Vonsattel scale. The pathological diagnosis of cardiac ATTR was done using a 3-point scale based on previously published findings on amyloid amounts. Six out of 50 patients were found to have cardiac ATTR by immunostaining and protein mass analysis of myocardial tissue. The sex distribution of the six patients was two males (Cases 3 and 6) and four females (Cases 1, 2, 4, and 5), and their ages were 97, 89, 91, 104, 86, and 77 years in Cases 1-6, respectively. In Cases 1-6, the NIAA score/CAA assessment/ATTR stages were intermediate/severe/G3, intermediate/moderate/G3, high/severe/G3, high/severe/G2, high/severe/G2, and intermediate/moderate/G2, respectively. Cases 1-5 also had cerebral infarction. In all cases, Transthyretin amyloid deposition was seen mainly in the vessel walls of various organs throughout the body. In the heart, transthyretin amyloid deposition was observed in the myocardial vessel walls and between myocardial fibers. On autopsy, cardiogenic cerebral infarction or heart failure was considered to be the main cause of death in Cases 1-5. These results indicate that Alzheimer's disease could be regarded as a systemic disease rather than just a localized disease presenting with dementia.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polymerized Type I Collagen With Polyvinylpyrrolidone Reduces Fibrosis and Improves Nerve Organization and Myelination After Peripheral Nerve Injury.","authors":"Daniel Salas-Treviño, Adolfo Soto-Domínguez, Roberto de Oca-Luna Montes, Cynthia Minerva González-Cantú, Everardo Valdés-Flores, Yanko Castro-Govea","doi":"10.1111/neup.70012","DOIUrl":"https://doi.org/10.1111/neup.70012","url":null,"abstract":"<p><p>Peripheral nerve injuries (PNI) cause a partial or total deficit of sensory and motor function, producing neuropathic pain and loss of productivity in adults. Type I collagen polymerized with polyvinylpyrrolidone (CLG-PVP) has been used previously in other fibrosing diseases due to its regulatory effects on interleukins, cytokines, and adhesion molecules. In the present study, we describe the role of CLG-PVP in the repair of PNI. We used a murine model of PNI through axonotmesis of the sciatic nerve. CLG-PVP treatments were administered in situ and intramuscularly and were compared to a sham procedure and placebo. Histological and histochemical-specific stain evaluations were performed to describe the structural changes in nervous tissue. A significant reduction in tissue fibrosis was observed in the groups treated with CLG-PVP, especially with the intramuscular treatment. Likewise, an increase in the organization of external lamina and nerve remyelination was observed in the treated groups. In addition, a slight improvement in gait was noted in the treated animal groups at the end of the study. After peripheral nerve injury, CLG-PVP restores the nerve's function, structure, and tissue organization. These therapeutic effects were more evident through the intramuscular administration scheme with a weekly dosage. However, randomized controlled clinical trials should be performed to verify its beneficial effects and characterize adverse events.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Astroblastoma With MN1::BEND2 Fusion Showing an Atypical Signal Pattern in MN1 Break-Apart FISH: A Potential Diagnostic Pitfall.","authors":"Takahiro Shirakura, Noriaki Sakamoto, Yasuhito Arai, Natsuko Hama, Hiroyoshi Kino, Haruna Okuno, Ayako Yamazaki, Nozomi Matsumura, Hideaki Yokoo, Tatsuhiro Shibata, Sumihito Nobusawa, Eiichi Ishikawa","doi":"10.1111/neup.70010","DOIUrl":"https://doi.org/10.1111/neup.70010","url":null,"abstract":"","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two Brothers With ADSS1 Myopathy: A Report of Clinical, Radiological, and Autopsy Findings.","authors":"Yuka Hama, Terunori Sano, Yasushi Oya, Chihiro Matsumoto, Yuji Nakayama, Yoshihiko Saito, Aritoshi Iida, Makoto Shibuya, Yuko Saito, Ichizo Nishino, Yuji Takahashi, Masaki Takao","doi":"10.1111/neup.70008","DOIUrl":"https://doi.org/10.1111/neup.70008","url":null,"abstract":"<p><p>ADSS1 myopathy, previously known as adenylosuccinate synthetase-like 1 (ADSSL1) myopathy, is an autosomal recessive muscle disease caused by variants in ADSS1 (adenylosuccinate synthase 1). ADSS1 myopathy is complicated by respiratory muscle weakness or cardiomyopathy as well as limb muscle weakness. We analyzed two siblings with ADSS1 myopathy, both harboring compound heterozygous pathogenic variants (c.781G>A/c.919delA) in ADSS1 and provided details of their phenotypes together with muscle imaging and autopsy findings. Although it was reported that ADSS1 myopathy usually began with lower limb muscle weakness, our cases showed early involvement of the cervical paraspinal muscle, triceps brachii muscle, flexor digitorum superficialis and profundus muscles, rectus abdominis muscle, gluteus maximus and medius muscles, and cardiomyopathy. While a previous study reported that the trunk and hip muscles were relatively spared, atrophy of paraspinal muscles, gluteus medius and maximus muscles, and adductor muscles were observed. Our two siblings allowed for long-term follow-up and will be useful reference cases. We evaluated the frequency of fibers with nemaline bodies in various autopsied muscles and found that the ratio of fibers with nemaline bodies was lower compared to other nemaline myopathies. Postmortem examination revealed, for the first time, nemaline bodies in the diaphragm and myocardium, associated with respiratory failure and cardiomyopathy.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Autopsy Case of Amyotrophic Lateral Sclerosis With Sudden Death Showed Histological Features of Lewy Body Disease.","authors":"Shunsuke Miyachi, Yuki Oshima, Kazuo Yazaki, Nozomi Futaki, Yusuke Shirai, Zen-Ichi Tanei, Yohei Ikebe, Ikuko Iwata, Hideki Ujiie, Masahiro Onozawa, Satoshi Hirano, Shinya Tanaka, Ichiro Yabe","doi":"10.1111/neup.70009","DOIUrl":"https://doi.org/10.1111/neup.70009","url":null,"abstract":"<p><p>We present the case of an 81-year-old man diagnosed with probable amyotrophic lateral sclerosis (ALS) based on the Updated Awaji criteria. The patient exhibited progressive motor neuron degeneration with muscle weakness, atrophy, and fasciculations primarily in the right lower limb and later extending to the right upper limb. Three months after being referred to a home care clinic, he collapsed in front of his family members and died. An autopsy revealed phosphorylated TDP-43 pathology consistent with ALS, with involvement of the hypoglossal nucleus, facial nerve nucleus, and medulla oblongata. Interestingly, widespread a-synuclein pathology indicative of diffuse neocortical type Lewy body disease (LBD; Braak stage 6) was identified, despite the absence of clinical parkinsonism or dementia with Lewy bodies (DLB) during his lifetime. The presence of autonomic symptoms such as constipation and urinary retention shortly before death may be attributable to a-synuclein pathology affecting the autonomic nervous system. The coexistence of ALS and LBD underscores the clinical challenge of diagnosing overlapping pathologies, as motor symptoms may obscure signs of LBD. Dopamine transporter imaging or MIBG myocardial scintigraphy might aid in identifying preclinical LBD in ALS patients with atypical symptoms. The patient died of respiratory failure due to extensive organizing pneumonia, but the possibility of sudden cardiac arrest could not be excluded. This case highlights the potential for coexisting neurodegenerative pathologies in ALS, emphasizing the importance of comprehensive evaluation when autonomic symptoms or other atypical features are present.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}