Neuropathology最新文献_第3页

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 2.3 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

SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report. 非NF1患者的SEGA样局限性星形细胞瘤，具有GBM的分子特征。病例报告。

IF 2.3 4区医学

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-02 DOI: 10.1111/neup.12948

Seiji Yamada, Motoki Tanikawa, Yuko Matsushita, Ryota Fujinami, Hiroshi Yamada, Kaishi Sakomi, Tomohiro Sakata, Hidehito Inagaki, Hideaki Yokoo, Koichi Ichimura, Mitsuhito Mase

{"title":"SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report.","authors":"Seiji Yamada, Motoki Tanikawa, Yuko Matsushita, Ryota Fujinami, Hiroshi Yamada, Kaishi Sakomi, Tomohiro Sakata, Hidehito Inagaki, Hideaki Yokoo, Koichi Ichimura, Mitsuhito Mase","doi":"10.1111/neup.12948","DOIUrl":"10.1111/neup.12948","url":null,"abstract":"Subependymal giant cell astrocytoma (SEGA) is a low-grade periventricular tumor that is closely associated with tuberous sclerosis complex (TSC). SEGA typically arises during the first two decades of life and rarely arises after the age of 20-25 years. Nevertheless, it has also been reported that glioma histologically resembling SEGA, so-called SEGA-like astrocytoma, can arise in neurofibromatosis type 1 (NF1) patients, even in the elderly. Herein, we report a case of SEGA-like circumscribed astrocytoma arising in the lateral ventricle of a 75-year-old woman. Whole-exome sequencing revealed a somatic variant of NF1. Methylation array analysis led to a diagnosis of \"methylation class glioblastoma, IDH-wildtype, mesenchymal-type (GBM, MES)\" with a high calibrated score (0.99). EGFR amplification, CDKN2A/B homozygous deletion, chromosomal +7/-10 alterations, and TERT promoter mutation, typical molecular abnormalities usually found in GBM, were also observed. While most reported cases of SEGA-like astrocytoma have arisen in NF1 patients, the patient was neither TSC nor NF1. Near total removal was accomplished with endoscopic cylinder surgery. At the 36-month follow-up, there was no tumor recurrence without adjuvant therapies. This clinical behavior did not match GBM. SEGA-like astrocytoma of the elderly is rare, and this is the oldest case reported so far. In addition, high-grade molecular features found in circumscribed tumor remain unclear. Further investigations among larger series are needed for clarifying the underlying molecular mechanisms.","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":"71425474","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

Ependymoma-like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge. ZFTA:NCOA1融合的间充质分化Ependymoma样肿瘤：诊断挑战。

IF 2.3 4区医学

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-06 DOI: 10.1111/neup.12952

Pranav Dorwal, Christine White, Anna Fn Goh, Amit Kumar, Jane McEniery, Rick Walker, Thomas Robertson

引用次数: 0

A rare encounter: Comprehensive case review of myxoid meningiomas with a representative case. 罕见的偶遇:一例典型的黏液样脑膜瘤的综合病例回顾。

IF 1.3 4区医学

Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-12 DOI: 10.1111/neup.12955

Norris C Talbot, Carlie Proctor, Hidehiro Takei, Jamie B Toms

引用次数: 0

ASK1 activation in glial cells in post-mortem multiple sclerosis tissue. 多发性硬化症死后组织神经胶质细胞中的 ASK1 激活。

IF 2.3 4区医学

Neuropathology Pub Date : 2024-05-22 DOI: 10.1111/neup.12978

Erika Seki, Xiaoli Guo, Kazuhiko Namekata, Takashi Komori, Hiroyuki Hayashi, Nobutaka Arai, Takayuki Harada

引用次数: 0

Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine. 拉丁美洲-伊比利亚髓母细胞瘤体细胞突变谱分析及驱动基因的临床影响：迈向精准医疗。

IF 2.3 4区医学

Neuropathology Pub Date : 2024-05-12 DOI: 10.1111/neup.12979

Letícia Ganem Rillo Paz Barateiro, Rodrigo de Oliveira Cavagna, Mariana Bisarro Dos Reis, Flávia Escremim de Paula, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Murilo Bonatelli, Iara Santana, Fabiano Pinto Saggioro, Luciano Neder, João Norberto Stavale, Suzana Maria Fleury Malheiros, Hernan Garcia-Rivello, Silvia Christiansen, Susana Nunes, Maria João Gil da Costa, Jorge Pinheiro, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis

{"title":"Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.","authors":"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","doi":"10.1111/neup.12979","DOIUrl":"https://doi.org/10.1111/neup.12979","url":null,"abstract":"Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity. Among the patients, 66.7% were MBSHH, 13.0% MBWNT, 7.3% MBGrp3, and 13.0% MBGrp4. Among the 63 variants found, 54% were classified as Tier I/II and 31.7% as oncogenic/likely oncogenic. We observed 33.3% of cases harboring at least one mutation. TP53 (23.2%, 16/69) was the most mutated gene, followed by PIK3CA (5.8%, 4/69), KIT (4.3%, 3/69), PDGFRA (2.9%, 2/69), EGFR (1.4%, 1/69), ERBB2 (1.4%, 1/69), and NRAS (1.4%, 1/69). Approximately 41% of MBSHH tumors exhibited mutations, TP53 (32.6%) being the most frequently mutated gene. Tier I/II and oncogenic/likely oncogenic TP53 variants were associated with relapse, progression, and lower survival rates. Potentially actionable variants in the PIK3CA and KIT genes were identified. Latin-Iberian medulloblastomas, particularly the MBSHH, exhibit higher mutation frequencies than other populations. We corroborate the TP53 mutation status as an important prognostic factor, while PIK3CA and KIT are potential therapeutic targets.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911032","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