Brain Tumor Pathology最新文献_第2页

Utility of digital PCR for detecting TERT promoter mutations and CDKN2A homozygous deletion in meningioma. 数字PCR检测脑膜瘤TERT启动子突变和CDKN2A纯合缺失的应用。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-02-16 DOI: 10.1007/s10014-025-00528-w

Takuma Kodama, Yuzaburo Shimizu, Mario Suzuki, Osamu Akiyama, Ikuko Ogino, Koichi Ichimura, Akihide Kondo

引用次数: 0

Diffuse low-grade glioma with a rare BRAF p.T599dup mutation in a child: importance of clinicopathological and molecular correlation. 儿童弥漫性低级别胶质瘤伴罕见BRAF p.T599dup突变：临床病理和分子相关性的重要性

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-21 DOI: 10.1007/s10014-026-00531-9

Seiji Yamada, Akio Takahashi, Hideaki Yokoo

引用次数: 0

Feasibility of long-read nanopore sequencing for methylation-based classification of posterior fossa ependymomas. 后窝室管膜瘤基于甲基化分类的长读纳米孔测序的可行性。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-21 DOI: 10.1007/s10014-025-00530-2

Seiji Yamada, Tetsuya Takimoto, Yoshiteru Shimoda, Fumiharu Ohka, Masayuki Kanamori, Kennosuke Karube, Hidenori Endo, Ryuta Saito, Hideyuki Saya, Eiji Sugihara

引用次数: 0

Unveiling a genetic rarity: intracranial sarcomatous tumor with EWSR1::PATZ1 fusion-a case report and review of the literature. 揭示遗传罕见：颅内肉瘤与EWSR1::PATZ1融合- 1例报告及文献复习

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-21 DOI: 10.1007/s10014-025-00529-9

Swati Mahajan, Jyotsna Singh, Ashwinee Kumar, Shrinidhi Vasant, Amandeep Kumar, Ajay Garg, M C Sharma, Vaishali Suri

引用次数: 0

Diverse NF2 alterations in cranial schwannomas: a two-case series of germline whole-gene deletion and somatic in-frame deletion. 颅神经鞘瘤中不同的NF2改变：两例种系全基因缺失和体细胞框架内缺失

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-21 DOI: 10.1007/s10014-026-00532-8

Kohei Nakamura, Ryota Tamura, Junki Sogano, Masahiro Yo, Kosuke Karatsu, Thinh Huy Nguyen, Reika Takamatsu, Kumiko Misu, Ippei Fukada, Kenjiro Kosaki, Takayuki Ueno, Hiroshi Nishihara, Masahiro Toda

{"title":"Diverse NF2 alterations in cranial schwannomas: a two-case series of germline whole-gene deletion and somatic in-frame deletion.","authors":"Kohei Nakamura, Ryota Tamura, Junki Sogano, Masahiro Yo, Kosuke Karatsu, Thinh Huy Nguyen, Reika Takamatsu, Kumiko Misu, Ippei Fukada, Kenjiro Kosaki, Takayuki Ueno, Hiroshi Nishihara, Masahiro Toda","doi":"10.1007/s10014-026-00532-8","DOIUrl":"https://doi.org/10.1007/s10014-026-00532-8","url":null,"abstract":"NF2-related schwannomatosis is a tumor predisposition syndrome caused by diverse NF2 alterations, including truncating variants, copy-number changes, and non-truncating variants such as in-frame indels. Molecular and clinical correlations of these variant types remain incompletely defined, particularly for rare deletions. We present two distinct cases highlighting NF2 inactivation spectrum. Case 1 describes a 62-year-old man with a jugular foramen schwannoma harboring a novel somatic NF2 in-frame deletion (c.713_733del, p.Ala238_Tyr244del) resulting in complete Merlin expression loss. Structural modeling predicted FERM-C subdomain destabilization; copy-neutral loss of heterozygosity confirmed biallelic inactivation. Case 2 describes a 55-year-old woman with early-onset bilateral vestibular schwannomas caused by a germline whole-gene NF2 deletion, with additional somatic mutations (splice-site and frameshift) inactivating the second allele. Pedigree analysis demonstrated paternal inheritance, underscoring the relevance of genetic counseling. Both tumors displayed classical schwannoma histology with absent Merlin staining, confirming functional NF2 loss. These cases emphasize the necessity of comprehensive molecular testing-including targeted sequencing, whole-genome sequencing, and multiplex ligation-dependent probe amplification-to detect nucleotide-level and large-scale NF2 alterations; moreover, they expand the NF2 mutation spectrum, illustrate pathogenic mechanisms across germline and somatic contexts, and provide clinically actionable insights for Merlin-deficient tumors.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146017439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Multifocal rosette-forming glioneuronal tumor-like low-grade glioneuronal tumor with dysembryoplastic neuroepithelial tumor features associated with drug-resistant epilepsy: a case report and literature review. 多灶玫瑰花状胶质神经元肿瘤样低级别胶质神经元肿瘤伴胚胎发育异常神经上皮肿瘤特征与耐药癫痫相关：1例报告及文献复习。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-06 DOI: 10.1007/s10014-025-00526-y

Yuuki Ishida, Koki Ise, Kenichi Sato, Taku Asanome, Ryunosuke Yoshihara, Yoko Aburakawa, Masaki Izumi, Yoshitaka Oda, Hirokazu Sugino, Zen-Ichi Tanei, Masumi Tsuda, Shinya Tanaka

{"title":"Multifocal rosette-forming glioneuronal tumor-like low-grade glioneuronal tumor with dysembryoplastic neuroepithelial tumor features associated with drug-resistant epilepsy: a case report and literature review.","authors":"Yuuki Ishida, Koki Ise, Kenichi Sato, Taku Asanome, Ryunosuke Yoshihara, Yoko Aburakawa, Masaki Izumi, Yoshitaka Oda, Hirokazu Sugino, Zen-Ichi Tanei, Masumi Tsuda, Shinya Tanaka","doi":"10.1007/s10014-025-00526-y","DOIUrl":"https://doi.org/10.1007/s10014-025-00526-y","url":null,"abstract":"Rosette-forming glioneuronal tumors (RGNTs) are rare, World Health Organization grade 1 tumors that typically arise around the fourth ventricle. However, cerebral hemisphere RGNTs have recently been reported, with some exhibiting clinical features resembling low-grade epilepsy-associated tumor (LEAT). We report a case of multifocal RGNT in a patient with drug-refractory epilepsy. A 14-year-old woman was incidentally found to have multifocal brain tumor involving the left temporal lobe and bilateral thalamus, she developed drug-resistant epilepsy ten years later and underwent surgery. Partial tumor resection and anterior temporal lobectomy were performed. Histopathology revealed a glioneuronal tumor with oligodendroglia-like cells, neurocytic rosette, and perivascular pseudorosette, exhibiting an infiltrative growth pattern extending into the white matter. Genetic analysis revealed Fibroblast Growth Factor Receptor 1 mutation. The methylation profile analysis matched the low-grade glioneuronal tumor class but did not yield to any subclass category. Finally, the tumor was diagnosed as RGNT-like low-grade glioneuronal tumor with dysembryoplastic neuroepithelial tumor (DNT) features. Cases presenting with a LEAT-like clinical course and exhibiting histopathological features of RGNT are often difficult to definitively distinguish from DNT based on histological and genetic findings. Epilepsy-associated RGNT may harbor genetic profiles distinct from those of prototypical RGNTs, highlighting the need for further investigation.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145910594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Exploratory analysis of miRNAs-21, -26a, -34a, -181c, -181d, and -485-5p as potential biomarkers for tumor treating fields sensitivity in primary glioblastoma cell cultures. 探索性分析mirna -21、-26a、-34a、-181c、-181d和-485-5p作为原发性胶质母细胞瘤细胞培养中肿瘤治疗野敏感性的潜在生物标志物。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-06 DOI: 10.1007/s10014-025-00527-x

Sina Hemmer, Mohamed Henia, Walter Schulz-Schaeffer, Ralf Ketter, Benjamin Landau, Joachim Oertel, Steffi Urbschat

{"title":"Exploratory analysis of miRNAs-21, -26a, -34a, -181c, -181d, and -485-5p as potential biomarkers for tumor treating fields sensitivity in primary glioblastoma cell cultures.","authors":"Sina Hemmer, Mohamed Henia, Walter Schulz-Schaeffer, Ralf Ketter, Benjamin Landau, Joachim Oertel, Steffi Urbschat","doi":"10.1007/s10014-025-00527-x","DOIUrl":"https://doi.org/10.1007/s10014-025-00527-x","url":null,"abstract":"Tumor Treating Fields (TTFields) are approved for glioblastoma (GBM) treatment, but predictive biomarkers remain unclear. This study evaluates TTFields effectiveness in primary GBM cell cultures and explores miRNA biomarkers in tumor tissue, plasma, and primary cell cultures. TTFields were applied to 21 primary GBM cell cultures for 72 h. Cell viability was assessed pre- and post-treatment, with parallel evaluations in control cultures. Expression levels of miRNAs-21, -26a, -34a, -181c, -181d, and -485-5p were analyzed in tumor tissue, plasma, and untreated/treatment-exposed cultures. Correlation analyses examined TTFields response and miRNA expression. Response rates varied, with a mean cell viability reduction of 48.53%. Expression of miRNA-26a in tumor tissue (p = 0.041, r = 0.502) and miRNAs-21, -26a, and -181c in untreated control cultures (p < 0.05) correlated with increased TTFields effectiveness. Linear correlations were observed for miRNAs-26a and -181c in untreated control cultures ([95% CI: 0.001938-0.01725, p = 0.016; 95% CI: 0.0000003935-0.0001641, p = 0.049). Individual GBM cell cultures respond differently to TTFields. Overexpression of miRNA-26a in native tumor tissue and overexpression of miRNAs-21, -26a and -181c in untreated control cell cultures were positively correlated with increased effectiveness of TTFields treatment.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145910675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Comparative molecular profiles of distinct tumor components in recurrent tentorial meningioma after stereotactic radiosurgery: a case report implicating acquired aggressive alterations associated with WHO grade progression. 立体定向放射手术后复发的幕脑膜瘤中不同肿瘤成分的比较分子谱：一个与WHO级进展相关的获得性侵袭性改变的病例报告。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-06 DOI: 10.1007/s10014-025-00524-0

Takeru Hirata, Yudai Hirano, Motoyuki Umekawa, Satoru Miyawaki, Yuki Shinya, Hirotaka Hasegawa, Yu Sakai, Noritaka Kudo, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Nobuhito Saito

引用次数: 0

Histologically indolent but widely disseminated diffuse midline glioma H3K27-altered revealed by autopsy. 组织学上不活跃，但广泛播散的弥漫性中线胶质瘤h3k27尸检显示改变。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-06 DOI: 10.1007/s10014-025-00525-z

Yosuke Kitagawa, Shota Tanaka, Hiroyuki Abe, Hirokazu Takami, Taijun Hana, Masashi Nomura, Shunsaku Takayanagi, Tetsuo Ushiku, Nobuhito Saito

引用次数: 0

Activated astrocytes drive the accumulation of apolipoprotein E at the brain tumor edge. 激活的星形胶质细胞驱动载脂蛋白E在脑肿瘤边缘的积累。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2026-01-01 Epub Date: 2025-07-31 DOI: 10.1007/s10014-025-00511-5

Ting-Yi Chien, Chi-Shiun Chiang

{"title":"Activated astrocytes drive the accumulation of apolipoprotein E at the brain tumor edge.","authors":"Ting-Yi Chien, Chi-Shiun Chiang","doi":"10.1007/s10014-025-00511-5","DOIUrl":"10.1007/s10014-025-00511-5","url":null,"abstract":"While tumor-associated macrophages (TAMs) have been extensively studied, the role of tumor-associated astrocytes (TAAs) in glioma progression is less explored. Astrocytes are crucial in maintaining lipid homeostasis by synthesizing cholesterol and apolipoprotein E (APOE) in the brain. However, the contribution of astrocytes in supporting the metabolic needs of tumor cells within the tumor microenvironment (TME) is still poorly understood. This study aims to investigate how astrocytes contribute to the unique brain TME by examining the spatial distribution of APOE and its correlation with glial cells. This study examined the spatial distribution of APOE in gliomas with two murine brain tumor models: ALTS1C1 and GL261. To validate astrocyte APOE secretion, in situ hybridization (ISH) for APOE mRNA and immunofluorescence (IF) staining for GFAP were performed. Immunofluorescence (IF) staining showed that APOE was accumulated at the tumor edge. ISH analysis confirmed that activated astrocytes were the primary cells responsible for the increased APOE in this region. Flow cytometry and IF staining demonstrated that TAMs were also associated with increased APOE expression in the tumor core. This study provides the first evidence that astrocytes at the tumor edge are activated and upregulated for APOE secretion. These brain tumor edge-associated astrocytes are responsible for the accumulation of APOE in this region and create a unique metabolic environment, which may contribute to brain tumor invasion and resistance to therapy.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"18-28"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12819506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0