Neuropathology最新文献_第4页

Spinal astroblastoma, MN1 altered in 3-year-old child: An uncommon tumor at an unusual site. 3岁儿童脊柱星形母细胞瘤，MN1改变：不常见部位的不常见肿瘤

IF 1.3 4区医学

Neuropathology Pub Date : 2024-08-01 Epub Date: 2024-02-26 DOI: 10.1111/neup.12965

Arun Kumar Panda, Sumanta Das, Anuj Singh, Sandeep Vaishya, Rakesh Kumar Gupta, Mehar Chand Sharma, Sunita Ahlawat

引用次数: 0

Diffuse leptomeningeal glioneuronal tumor with distinct neuronal and glial components but identical diagnostic molecular and genetic features. 弥漫性脑膜胶质细胞瘤，具有不同的神经元和胶质成分，但诊断分子和遗传特征相同。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-07-28 DOI: 10.1111/neup.12996

Andrew J Witten, Carson Dougherty, Chunhai Hao

{"title":"Diffuse leptomeningeal glioneuronal tumor with distinct neuronal and glial components but identical diagnostic molecular and genetic features.","authors":"Andrew J Witten, Carson Dougherty, Chunhai Hao","doi":"10.1111/neup.12996","DOIUrl":"https://doi.org/10.1111/neup.12996","url":null,"abstract":"The 2021 World Health Organization (WHO) classification of the central nervous system (CNS) tumors has classified diffuse leptomeningeal glioneuronal tumor (DLGNT) as a mixed neuronal and glial tumor. Here, we report a DLGNT with two distinct morphological tumor components but identical molecular features. A four-year-old female child presented with progressive right upper extremity weakness. Magnetic resonance imaging (MRI) revealed the leptomeningeal enhancement over the brain stem and cervicothoracic spine. The histological examination of surgical specimens revealed two distinct tumor components: approximately half of the tumor is composed of oligodendroglioma-like tumor intermingled with nodules of ganglioglioma-like tumor. Immunohistochemistry confirmed the oligodendroglioma and ganglioglioma features. The molecular genetic studies demonstrated the features of DLGNT, including fusion of KIAA1549::BRAF, deletion of chromosome 1p, and absence of isocitrate dehydrogenase 1/2 (IDH1/2) mutation in both tumor components. Interestingly, the genetic studies also revealed the distinct chromosomal abnormalities of the loss of chromosome 4 only in oligodendroglioma-like tumor and copy neutral loss of heterozygosity of 7Q34Q36.3 in the ganglioglioma-like tumor component. This case highlights the critical role of molecular testing in the diagnosis of rare cases of DLGNT with diverse morphological components as well as in the identification of unique molecular alternations responsible for morphological phenotypes of the distinct tumors in DLGNT.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141788738","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}

引用次数: 0

Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle. 杜兴氏肌肉萎缩症骨骼肌中 cathepsin K 基因表达的增加。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-07-16 DOI: 10.1111/neup.12995

Shigemi Kimura, Noriko Miyake, Shiro Ozasa, Hiroe Ueno, Yoshinobu Ohtani, Yutaka Takaoka, Ichizo Nishino

{"title":"Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.","authors":"Shigemi Kimura, Noriko Miyake, Shiro Ozasa, Hiroe Ueno, Yoshinobu Ohtani, Yutaka Takaoka, Ichizo Nishino","doi":"10.1111/neup.12995","DOIUrl":"https://doi.org/10.1111/neup.12995","url":null,"abstract":"Dystrophinopathy is caused by alterations in the dystrophin gene. The severe phenotype, Duchenne muscular dystrophy (DMD), is caused by a lack of dystrophin in skeletal muscles, resulting in necrosis and regenerating fibers, inflammatory cells, and muscle fibrosis. Progressive muscle weakness is a characteristic finding of this condition. Here, we encountered a rare case of a 10-year-old patient with asymptomatic dystrophinopathy with no dystrophin expression and investigated the reason for the absence of muscle weakness to obtain therapeutic insights for DMD. Using RNA-seq analysis, gene expression in skeletal muscles was compared among patients with asymptomatic dystrophinopathy, three patients with typical DMD, and two patients without dystrophinopathy who were leading normal daily lives. Cathepsin K (CTSK), myosin heavy chain 3 (MYH3), and nodal modulator 3-like genes exhibited a >8-fold change, whereas crystallin mu gene (CRYM) showed a <1/8-fold change in patients with typical DMD compared with their expression in the patient with asymptomatic dystrophinopathy. Additionally, CTSK and MYH3 expression exhibited a >16-fold change (P < 0.01), whereas CRYM expression showed a <1/16-fold change (P < 0.01) in patients with typical DMD compared with their expression in those without dystrophinopathy. CTSK plays an essential role in skeletal muscle loss, fibrosis, and inflammation in response to muscles injected with cardiotoxin, one of the most common reagents that induce muscle injury. Increased CTSK expression is associated with muscle injury or necrosis in patients with DMD. The lack of muscle weakness in the patient with asymptomatic dystrophinopathy might be attributed to the low CTSK expression in the muscles. To the best of our knowledge, this is the first report to demonstrate that CTSK expression was significantly higher in the skeletal muscles of patients with DMD with a typical phenotype than in those without dystrophinopathy.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627211","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}

引用次数: 0

Neuropathologic findings in a patient with hemiparkinsonism and hemiatrophy syndrome. 一名患有半帕金森症和半萎缩综合征的患者的神经病理学发现。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-07-07 DOI: 10.1111/neup.12994

Masataka Nakamura, Ayako Tsuge, Kosuke Miyake, Takenobu Kunieda, Hirofumi Kusaka, Yusuke Yakushiji

{"title":"Neuropathologic findings in a patient with hemiparkinsonism and hemiatrophy syndrome.","authors":"Masataka Nakamura, Ayako Tsuge, Kosuke Miyake, Takenobu Kunieda, Hirofumi Kusaka, Yusuke Yakushiji","doi":"10.1111/neup.12994","DOIUrl":"https://doi.org/10.1111/neup.12994","url":null,"abstract":"The first postmortem neuropathological findings of a hemiparkinsonism and hemiatrophy (HPHA) patient are presented. A 50-year-old man developed resting tremors affecting the right hand and leg, followed by mild clumsiness of the right hand. On examination, he exhibited muscle atrophy of the right leg extremity, accompanied by right-sided parkinsonism. Brain magnetic resonance imaging was normal. Based on the clinical and radiological findings, HPHA syndrome was diagnosed, showing a good response to L-DOPA. He gradually developed muscular atrophy of the right distal upper extremity. Thirteen years after the onset of the disease, left-sided parkinsonism appeared. The patient died of Trousseau's syndrome associated with a rapidly emerging pancreatic tumor. The total duration of the disease was 14 years. Neuropathologically, the substantia nigra showed markedly left-predominant neuronal loss, along with almost symmetrical Lewy body (LB) pathology. These findings indicated that the patient originally had fewer neurons in the left substantia nigra than in the right, probably caused by congenital or childhood cerebral injury, followed by the development of unilateral parkinsonism due to the progression of LB pathology. Despite our extensive neuropathological analysis, we could not specify the etiology or anatomical substrate responsible for the development of right upper and lower extremity atrophy. Further clinicopathological studies are needed to elucidate the pathoanatomical areas causing hemiparkinsonism and hemiatrophy.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555292","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}

引用次数: 0

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy. 两例伊朗 RBCK1 相关多聚糖体肌病患者的表型和基因分型谱。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-06-23 DOI: 10.1111/neup.12993

Marzieh Babaee, Yalda Nilipour, Sahar Alijanpour, Aida Ghasemi, Mohammad Mehdi Taghdiri, Payam Sarraf, Mohammad Miryounesi, Mahtab Ramezani

{"title":"Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.","authors":"Marzieh Babaee, Yalda Nilipour, Sahar Alijanpour, Aida Ghasemi, Mohammad Mehdi Taghdiri, Payam Sarraf, Mohammad Miryounesi, Mahtab Ramezani","doi":"10.1111/neup.12993","DOIUrl":"https://doi.org/10.1111/neup.12993","url":null,"abstract":"Glycogen storage diseases (GSDs) are a group of metabolic disorders affecting glycogen metabolism, with polyglucosan body myopathy type 1 (PGBM1) being a rare variant linked to RBCK1 gene mutations. Understanding the clinical diversity of PGBM1 aids in better characterization of the disease. Two unrelated Iranian families with individuals exhibiting progressive muscle weakness underwent clinical evaluations, genetic analysis using whole exome sequencing (WES), and histopathological examinations of muscle biopsies. In one case, a novel homozygous RBCK1 variant was identified, presenting with isolated myopathy without cardiac or immune involvement. Conversely, the second case harbored a known homozygous RBCK1 variant, displaying a broader phenotype encompassing myopathy, cardiomyopathy, inflammation, and immunodeficiency. Histopathological analyses confirmed characteristic skeletal muscle abnormalities consistent with PGBM1. Our study contributes to the expanding understanding of RBCK1-related diseases, illustrating the spectrum of phenotypic variability associated with distinct RBCK1 variants. These findings underscore the importance of genotype-phenotype correlations in elucidating disease mechanisms and guiding clinical management. Furthermore, the utility of next-generation sequencing techniques in diagnosing complex neurogenetic disorders is emphasized, facilitating precise diagnosis and enabling tailored genetic counseling for affected individuals and their families.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458400","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}

引用次数: 0

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". 对世卫组织2021年中枢神经系统肿瘤新分类方案在低资源环境中的实际益处和注意事项的回顾性分析:“来自低收入和中等收入国家的视角”。

IF 2.3 4区医学

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-29 DOI: 10.1111/neup.12953

Yazgı Köy, Onur Ceylan, Aslı Kahraman, Sibel Cangi, Sevilay Özmen, Tarık Tihan

{"title":"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\".","authors":"Yazgı Köy, Onur Ceylan, Aslı Kahraman, Sibel Cangi, Sevilay Özmen, Tarık Tihan","doi":"10.1111/neup.12953","DOIUrl":"10.1111/neup.12953","url":null,"abstract":"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 have drawn attention to the issue of the applicability of the new CNS WHO 2021 worldwide, but the exuberant enthusiasm observed in high-income countries seems to have stifled such a concern. In this study, we present data on the practical utility of the changes that occurred in CNS WHO 2021 in four institutions with limited resources. Our findings demonstrate no major alterations in patient management in low resource settings and significant added financial impact. While there is no doubt that the revised classification provides greater insight into tumor biology and molecular/genetic features of CNS tumors, its practical benefit and applicability in the majority of cases worldwide are limited, and attempts to improve its utility in low resource settings are warranted.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138461197","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}

引用次数: 0

Cervical myelopathy and extensive body destruction caused by primary Gli1 fusion sarcoma. 原发性Gli1融合肉瘤引起的颈椎病和广泛的机体破坏。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-20 DOI: 10.1111/neup.12957

Ching-Ying Wang, Yi-Lin Chu, Shih-Chieh Lin, Chih-Chun Wu, Wen-Cheng Huang, Chao-Hung Kuo

引用次数: 0

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

Neuropathology 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

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

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-14 DOI: 10.1111/neup.12954

Jiexia Guan, Weizhen Lin, Weimin Liu, Dayang Hui

{"title":"Primary central nervous system extranodal NK/T-cell lymphoma, nasal type with CD20 expression: Case report and review of the literature.","authors":"Jiexia Guan, Weizhen Lin, Weimin Liu, Dayang Hui","doi":"10.1111/neup.12954","DOIUrl":"10.1111/neup.12954","url":null,"abstract":"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.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107591840","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}

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

Neuropathology 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

{"title":"Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations.","authors":"Adam Sheriff, Hirokazu Takami, Shunsaku Takayanagi, Yosuke Kitagawa, Shota Tanaka, Masako Ikemura, Reiko Matsuura, Yuko Matsushita, Koichi Ichimura, Nobuhito Saito","doi":"10.1111/neup.12951","DOIUrl":"10.1111/neup.12951","url":null,"abstract":"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.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71425473","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}

引用次数: 0