Brain Tumor Pathology最新文献

Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approaches. 利用全转录组和空间转录组方法对颅咽管瘤进行综合分子表征。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-07-09 DOI: 10.1007/s10014-025-00509-z

Špela Kert, Alenka Matjašič, Jože Pižem, Jernej Mlakar, Matic Bošnjak, Miha Jerala, Primož Kotnik, Barbara Faganel Kotnik, Lidija Kitanovski, Andrej Zupan

{"title":"Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approaches.","authors":"Špela Kert, Alenka Matjašič, Jože Pižem, Jernej Mlakar, Matic Bošnjak, Miha Jerala, Primož Kotnik, Barbara Faganel Kotnik, Lidija Kitanovski, Andrej Zupan","doi":"10.1007/s10014-025-00509-z","DOIUrl":"https://doi.org/10.1007/s10014-025-00509-z","url":null,"abstract":"Craniopharyngiomas (CPs) are rare benign brain tumors that are classified as WHO grade I, with two subtypes: adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). ACP is caused by somatic mutations in exon 3 of the CTNNB1 gene activating the Wnt signaling pathway. PCP is associated with somatic BRAF p.V600E mutations activating the MAPK signaling pathway. Understanding their molecular differences is crucial for diagnosis and treatment. This study aimed to analyze common somatic alterations in ACP and PCP using bulk transcriptome sequencing and in situ spatial transcriptomics. RNA sequencing and high-resolution spatial profiling were used to detect mutations and examine gene expression differences among ACP, PCP, and healthy pituitary tissue. Whole transcriptome sequencing was performed on 24 tumor samples, with healthy pituitary data from the GTEx portal. Bioinformatics analysis utilized the CTAT mutation pipeline, with Sanger sequencing for validation. Results confirmed BRAF p.V600E mutations in all PCP samples and CTNNB1 mutations in all ACP samples. Differential gene expression analysis highlighted distinct molecular profiles and reinforced the involvement of Wnt and MAPK signaling. Spatial profiling identified 41 differentially expressed genes between ACP and PCP. This study provides critical insights into CP biology, supporting improved diagnostics and potential therapeutic strategies.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599488","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

Primary pigmented papillary epithelial tumor of the sella: case report and literature review. 鞍区原发性色素乳头状上皮瘤：1例报告及文献复习。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-07-05 DOI: 10.1007/s10014-025-00508-0

Shuang Wu, Xudan Yang, Xiaoqing Wang

{"title":"Primary pigmented papillary epithelial tumor of the sella: case report and literature review.","authors":"Shuang Wu, Xudan Yang, Xiaoqing Wang","doi":"10.1007/s10014-025-00508-0","DOIUrl":"https://doi.org/10.1007/s10014-025-00508-0","url":null,"abstract":"Primary pigmented papillary epithelial tumor of the sella (PPPET) is a recently identified tumor entity that commonly originates in the sella. To date, only three cases have been documented. These tumors are characterized by a papillary structure and significant melanin granule deposition. Notably, molecular characterization of PPPET remains unreported in the literature. A 42-year-old male presented with left-sided visual impairment for 2 weeks. Neuroimaging revealed a round sellar hyperdense mass. Histologically, the tumor exhibited minimal nuclear atypia and was characterized by a papillary architecture and obvious intracellular hyperpigmentation. Immunophenotypically, tumor cells showed diffuse positivity for S-100 and Melan-A, partial or focal positivity for synaptophysin and CD56, and negativity for TTF-1, GFAP, EMA, cytokeratins, and pituitary hormones. The Ki-67 proliferation index was low. The whole exome sequencing (WES) analysis revealed multiple potentially pathogenic gene mutations (AGAP3, DDX10, BBX, NFATC4, SLC6A6) in tumor tissues. Large genomic rearrangements (LGRs) involving PRKRA (exon6-8 del) and SKA3 (exon2-8 del) were detected. Genomic instability analysis indicated whole genome doubling (WGD) and aneuploidy in the tumor cells. Copy number variation (CNV) analysis demonstrated extensive copy number abnormalities at the chromosome arm level in tumor tissues. No classical mutations associated with known tumor types of the sella and choroid plexus were detected. PPPET has unique morphologic, immunohistochemical, and molecular genetic characteristics. Our findings suggest that PPPET may be an independent neurooncological entity.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567169","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

Targeting TGF-β signaling in glioblastoma: therapeutic implications and novel drug development strategies. 靶向TGF-β信号在胶质母细胞瘤中的作用：治疗意义和新的药物开发策略。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-07-04 DOI: 10.1007/s10014-025-00505-3

Sara Sadeghzadeh, Razieh Ebrahimi, Aysan Zareiye, Ahmad Meshkin, Reyhaneh Aghabozorgi, Marzieh Lotfi, Fahimeh Ghanbari, Seyed Hossein Shahcheraghi, Zahra Sadat Aghili

{"title":"Targeting TGF-β signaling in glioblastoma: therapeutic implications and novel drug development strategies.","authors":"Sara Sadeghzadeh, Razieh Ebrahimi, Aysan Zareiye, Ahmad Meshkin, Reyhaneh Aghabozorgi, Marzieh Lotfi, Fahimeh Ghanbari, Seyed Hossein Shahcheraghi, Zahra Sadat Aghili","doi":"10.1007/s10014-025-00505-3","DOIUrl":"https://doi.org/10.1007/s10014-025-00505-3","url":null,"abstract":"Glioma, a prevalent primary brain tumor, arises from the supporting cells of the central nervous system (CNS) and is categorized into grades I-IV. Despite advancements in therapeutic strategies, including surgery, chemotherapy, radiotherapy, and targeted therapies, glioma remains associated with high mortality and recurrence rates, often leading to poor patient outcomes. The pathogenesis of glioma is influenced by a combination of environmental factors, genetic mutations, and lifestyle choices. Transforming growth factor-beta (TGF-β) signaling plays a pivotal role in glioma progression by regulating cell proliferation, survival, and differentiation. TGF-β activates Small mothers against decapentaplegic 2/3 (Smad2/3) proteins through specific receptors, forming a complex with Smad4 that translocate to the nucleus to modulate gene expression. In addition, TGF-β-activated kinase 1 (TAK1) initiates mitogen-activated protein kinase (MAPK) cascades, further contributing to tumorigenesis. The TGF-β/Smad pathway can be negatively regulated by inhibitory Smad6/7. Elevated expression of TGF-β isoforms (Ι-Ш) is correlated with increased glioma risk. TGF-β promotes tumor growth by sustaining glioma stem cell self-renewal and suppressing antitumor immune responses. Preclinical studies demonstrate that TGF-β signaling inhibitors reduce glioma viability and invasion in animal models, highlighting their potential as promising therapeutic agents for glioma treatment.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559207","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

Triple sellar collision lesion: a unique case of pituitary adenoma, Rathke cleft cyst, and xanthogranuloma-case report and systematic review of the literature. 三鞍碰撞性病变：垂体腺瘤、Rathke裂性囊肿及黄色肉芽肿个案报告及文献系统复习。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-06-06 DOI: 10.1007/s10014-025-00504-4

Miguel A Del Toro-Colín, Martha Tena-Suck, Alberto Santiago-Balmaseda, Citlalteptl Salinas-Lara, Germán Velázquez-Garcia, Maria de Lourdes Aguilar-Gómez, Elsa Yazmín León-Marroquín, Carlos Sánchez-Garibay, Alma Ortíz-Plata, Roger Carrillo-Meza, Noemi Gelista-Herrera, Lesly Hernández-Roque, Luis O Soto-Rojas

{"title":"Triple sellar collision lesion: a unique case of pituitary adenoma, Rathke cleft cyst, and xanthogranuloma-case report and systematic review of the literature.","authors":"Miguel A Del Toro-Colín, Martha Tena-Suck, Alberto Santiago-Balmaseda, Citlalteptl Salinas-Lara, Germán Velázquez-Garcia, Maria de Lourdes Aguilar-Gómez, Elsa Yazmín León-Marroquín, Carlos Sánchez-Garibay, Alma Ortíz-Plata, Roger Carrillo-Meza, Noemi Gelista-Herrera, Lesly Hernández-Roque, Luis O Soto-Rojas","doi":"10.1007/s10014-025-00504-4","DOIUrl":"https://doi.org/10.1007/s10014-025-00504-4","url":null,"abstract":"The coexistence of three lesions in the sellar region is exceedingly rare. Only two cases with three histopathologically distinct lesions have been reported. However, here, we present a unique case of a 54-year-old female with pituitary adenoma (PA), xanthogranulomatous hypophysitis (XGH), and a Rathke cleft cyst (RCC). Clinically, the patient manifested symptoms of mass compression, such as moderate-intensity headaches and progressive visual acuity decrease. Relevant endocrinological evaluation revealed elevated free thyroxine levels without clinical manifestations. MRI revealed a suprasellar mass compatible with a macroadenoma. The patient underwent transsphenoidal endoscopic resection, resulting in a non-functional macroadenoma with associated XGH due to the rupture of RCC. Furthermore, in this article, we analyze the possible mechanisms involved in the pathogenesis of these lesions, emphasizing the type of spectrum to which they belong and the manifestations present.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233236","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

Intraspinal ASPSCR1::TFE3 rearranged tumor with nerve differentiation. 椎管内ASPSCR1: TFE3重排肿瘤伴神经分化。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-05-27 DOI: 10.1007/s10014-025-00502-6

Yue-E Wang, Wei Wang, An-Li Zhang, Yuan Li, Sibai Sun, Wenchao Zhou, Haibo Wu

{"title":"Intraspinal ASPSCR1::TFE3 rearranged tumor with nerve differentiation.","authors":"Yue-E Wang, Wei Wang, An-Li Zhang, Yuan Li, Sibai Sun, Wenchao Zhou, Haibo Wu","doi":"10.1007/s10014-025-00502-6","DOIUrl":"https://doi.org/10.1007/s10014-025-00502-6","url":null,"abstract":"The ASPSCR1::TFE3 rearrangement has been described in alveolar soft part sarcoma, MiT family translocation renal cell carcinomas as well as perivascular epithelioid cell tumors (PEComas). However, this rearrangement has not been reported in the primary spinal canal. Here, we report a case of an 18-year-old male who had pain in his left lower limb for 2 months. Neuroimaging revealed a lesion in the spinal canal from thoracic 12 to lumbar 1. Histopathological examination showed the tumor consisting of nested architectural pattern with abundant psammomatous calcification. Tumor cells exhibited strong and diffuse positivity for TFE3 and SOX10, patchy positivity for HMB-45 and S100, while other immunomarkers were negatively stained. RNA sequencing confirmed the ASPSCR1::TFE3 gene rearrangement. The Heidelberg DNA methylation classifier classified this case as \"Cranial and Paraspinal Nerve Tumor\". This case may represent a novel intraspinal neoplasm entity that expands the spectrum of ASPSCR1::TFE3-rearranged neoplasms by unique histopathological features and potential neural differentiation. We named this case as intraspinal ASPSCR1::TFE3 rearranged tumor with SOX10 expression.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149276","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

Rapidly progressive scalp and lung metastases with fatal pneumothorax in glioblastoma, IDH-wildtype, with MET and CDK6 amplifications: a case report of clinical course and postmortem autopsy, including genetic analysis. idh野生型胶质母细胞瘤中伴有MET和CDK6扩增的快速进展性头皮和肺转移并致死性气胸：临床病程和尸检病例报告，包括遗传分析。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-05-20 DOI: 10.1007/s10014-025-00503-5

Yoshihiro Tsukamoto, Manabu Natsumeda, Hiroshi Shimizu, Haruhiko Takahashi, Satoshi Shibuma, Asuka Ueno, Akihiro Takahashi, Kazuki Shida, Taiki Saito, Hidemoto Fujiwara, Yoko Nakayama, Yuki Takahashi, Rie Kondo, Rie Saito, Takeyoshi Eda, Masayasu Okada, Kouichirou Okamoto, Toshiaki Kikuchi, Akiyoshi Kakita, Makoto Oishi

{"title":"Rapidly progressive scalp and lung metastases with fatal pneumothorax in glioblastoma, IDH-wildtype, with MET and CDK6 amplifications: a case report of clinical course and postmortem autopsy, including genetic analysis.","authors":"Yoshihiro Tsukamoto, Manabu Natsumeda, Hiroshi Shimizu, Haruhiko Takahashi, Satoshi Shibuma, Asuka Ueno, Akihiro Takahashi, Kazuki Shida, Taiki Saito, Hidemoto Fujiwara, Yoko Nakayama, Yuki Takahashi, Rie Kondo, Rie Saito, Takeyoshi Eda, Masayasu Okada, Kouichirou Okamoto, Toshiaki Kikuchi, Akiyoshi Kakita, Makoto Oishi","doi":"10.1007/s10014-025-00503-5","DOIUrl":"https://doi.org/10.1007/s10014-025-00503-5","url":null,"abstract":"We report a rare case of extracranial metastases of a glioblastoma, IDH-wildtype, in a 77-year-old man who initially presented with a right frontal tumor, and gross total resection and adjuvant chemoradiotherapy were performed. The tumor was histologically comprised of two cellular components: astrocytic and poorly differentiated astrocytic tumor cells, with each strongly and infrequently positive for glial markers. Importantly, both components were positive for Nestin and CD44, indicating stemness and migratory characteristics. Three-and-a-half months after surgery, the patient presented with a subcutaneous tumor of the scalp at the surgical site and dyspnea. Imaging studies revealed tumors in the scalp, multiple intracranial locations, and the lungs, complicating a pneumothorax. He died of respiratory failure approximately 4.5 months after tumor resection. An autopsy revealed extra-axial tumors involving the sub/epidural, scalp, and intrathoracic regions, each consisting of tumor cells resembling those of the poorly differentiated astrocytic component observed in the original right frontal tumor. Genetic and copy number analysis proved that the extra-axial tumors were metastatic lesions originating from the right frontal glioblastoma, as MET and CDK6 amplification and TERT promoter mutation were shared in all tumors. These genomic alterations and stemness might contribute to the rapid development of extracranial glioblastoma metastasis and a worse prognosis.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109756","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

The function of chaperones in the radioresistance of glioblastoma: a new insight into the current knowledge. 伴蛋白在胶质母细胞瘤放射耐药中的作用：对现有知识的新认识。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-04-21 DOI: 10.1007/s10014-025-00501-7

Reza Arefnezhd, Amir Modarresi Chahardehi, Amirmasoud Asadi, Mahammad Mehdi Shadravan, Abbas Shariati, Aryan Rezaee, Mehrsa Radmanesh, Mohammadreza Nazarian, Maryam Helfi, Mohammad Saeed Soleimani Meigoli, Hossein Motedayyen, Fatemeh Rezaei-Tazangi, Marziye Ranjbar Tavakoli

{"title":"The function of chaperones in the radioresistance of glioblastoma: a new insight into the current knowledge.","authors":"Reza Arefnezhd, Amir Modarresi Chahardehi, Amirmasoud Asadi, Mahammad Mehdi Shadravan, Abbas Shariati, Aryan Rezaee, Mehrsa Radmanesh, Mohammadreza Nazarian, Maryam Helfi, Mohammad Saeed Soleimani Meigoli, Hossein Motedayyen, Fatemeh Rezaei-Tazangi, Marziye Ranjbar Tavakoli","doi":"10.1007/s10014-025-00501-7","DOIUrl":"https://doi.org/10.1007/s10014-025-00501-7","url":null,"abstract":"Radiotherapy remains a cornerstone of brain tumor treatment; however, its effectiveness is frequently undermined by the development of radioresistance. This review highlights the pivotal role of molecular chaperones in promoting radioresistance and explores the potential to increase radioresistance in brain cancers, particularly glioblastoma (GBM). Among chaperones, heat shock proteins (HSPs), such as HSP70 and HSP90, have been identified as key contributors to radioresistance, acting through mechanisms that include the maintenance of protein homeostasis, enhancement of DNA repair processes, and protection of cancer stem cells. Specifically, HSP70 and HSP90 are crucial in stabilizing oncogenic proteins and preventing apoptosis, thus enabling tumor survival during radiotherapy. Also, HSP27 and GRP78 are involved in the radioresistance of brain tumors mainly by suppressing cell death and enhancing tumor stem cell propagation. Emerging evidence also suggests that targeting these chaperones, in combination with radiotherapy, can enhance tumor radiosensitivity, offering promising therapeutic strategies. Recent studies have revealed novel aspects of chaperone-mediated autophagy and interaction with non-coding RNAs, providing deeper insights into the molecular mechanisms underlying radioresistance. This review also addresses the potential of combining chaperone-targeted therapies, such as HSP90 inhibitors, with radiotherapy to overcome resistance. Ultimately, understanding these mechanisms may pave the way for innovative clinical applications and personalized therapeutic approaches in brain tumor treatment.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980605","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

Analysis of clinical, histological, and genomic information of molecular glioblastoma in a Japanese glioma cohort. 日本胶质瘤队列中分子胶质母细胞瘤的临床、组织学和基因组信息分析。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-04-06 DOI: 10.1007/s10014-025-00500-8

Ryutaro Makino, Madan Bajagain, Nayuta Higa, Toshiaki Akahane, Hajime Yonezawa, Hiroyuki Uchida, Tomoko Takajo, Mari Kirishima, Seiya Yokoyama, Ryosuke Otsuji, Yutaka Fujioka, Daisuke Kuga, Hitoshi Yamahata, Masamichi Kurosaki, Junkoh Yamamoto, Koji Yoshimoto, Akihide Tanimoto, Ryosuke Hanaya

{"title":"Analysis of clinical, histological, and genomic information of molecular glioblastoma in a Japanese glioma cohort.","authors":"Ryutaro Makino, Madan Bajagain, Nayuta Higa, Toshiaki Akahane, Hajime Yonezawa, Hiroyuki Uchida, Tomoko Takajo, Mari Kirishima, Seiya Yokoyama, Ryosuke Otsuji, Yutaka Fujioka, Daisuke Kuga, Hitoshi Yamahata, Masamichi Kurosaki, Junkoh Yamamoto, Koji Yoshimoto, Akihide Tanimoto, Ryosuke Hanaya","doi":"10.1007/s10014-025-00500-8","DOIUrl":"https://doi.org/10.1007/s10014-025-00500-8","url":null,"abstract":"In the 2021 WHO Central Nervous System tumor classification, the \"Glioblastoma, IDH-wildtype\" diagnosis changed markedly. In a Japanese cohort, we compared the clinical backgrounds and prognoses of molecular glioblastoma (mGBM) and conventional glioblastoma (histological glioblastoma, hGBM). We included 270 patients with glioblastoma treated at five institutions during 2011-2023. Driver gene analysis was performed using a brain tumor-specific custom gene panel to verify the association between molecular and clinical information. Patients with mGBM had better preoperative KPS, lower Ki-67, and lower removal rates than did those with hGBM. Overall survival was longer in patients with mGBM than in those with hGBM (1207 vs 599 days, p = 0.037). TP53 mutation (hazard ratio: 5.33, 95% confidence interval: 0.26-108.7, p = 0.012) and histological grade 3 (p = 0.051) were poor prognostic factors for mGBM. Patients with mGBM had better preoperative KPS, worse removal rates, lower Ki-67 labeling index, and better overall survival than did those with hGBM. In addition, the histological grade of mGBM is potentially useful for estimating prognosis. In the WHO CNS5 2021, glioblastoma patients remain a heterogeneous population, and prognostic stratification based on the patient's clinical background and molecular information is desirable.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794666","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

Discordant lymphoma characterized by the coexistence of diffuse large B-cell lymphoma in the brain and mantle cell lymphoma in the colon, rectum, and bone marrow. 不协调性淋巴瘤以脑弥漫性大b细胞淋巴瘤和结肠、直肠和骨髓套细胞淋巴瘤共存为特征。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-04-01 Epub Date: 2025-03-18 DOI: 10.1007/s10014-025-00499-y

Kyosuke Yamaguchi, Go Yamamoto, Otoya Watanabe, Kosei Kageyama, Daisuke Kaji, Yuki Taya, Aya Nishida, Kazuya Ishiwata, Shinsuke Takagi, Hisashi Yamamoto, Yuki Asano-Mori, Hironori Uruga, Shinji Ito, Yutaka Takazawa, Atsushi Wake, Naoyuki Uchida, Shuichi Taniguchi

{"title":"Discordant lymphoma characterized by the coexistence of diffuse large B-cell lymphoma in the brain and mantle cell lymphoma in the colon, rectum, and bone marrow.","authors":"Kyosuke Yamaguchi, Go Yamamoto, Otoya Watanabe, Kosei Kageyama, Daisuke Kaji, Yuki Taya, Aya Nishida, Kazuya Ishiwata, Shinsuke Takagi, Hisashi Yamamoto, Yuki Asano-Mori, Hironori Uruga, Shinji Ito, Yutaka Takazawa, Atsushi Wake, Naoyuki Uchida, Shuichi Taniguchi","doi":"10.1007/s10014-025-00499-y","DOIUrl":"10.1007/s10014-025-00499-y","url":null,"abstract":"We describe a rare case of discordant lymphoma characterized by the coexistence of diffuse large B-cell lymphoma (DLBCL) in the brain and mantle cell lymphoma (MCL) in the colon, rectum, and bone marrow. A 63-year-old male patient with consciousness impairment and gait disturbance was admitted to our institution. Head computed tomography scan and contrast-enhanced magnetic resonance imaging showed a mass in the right temporal lobe and rectal wall thickening. Brain biopsy revealed DLBCL, and bone marrow and rectum biopsy showed MCL. According to a polymerase chain reaction analysis of immunoglobulin heavy-chain gene rearrangements using brain and bone marrow specimens, the two lesions were clonally unrelated lymphomas. After five cycles of R-MPV (rituximab, methotrexate, procarbazine, vincristine) therapy and three cycles of R-ESHAP (rituximab, etoposide, cytarabine, cisplatin, methylprednisolone) therapy, the patient received autologous hematopoietic stem cell transplantation using R-MEAM (rituximab, ranimustine, etoposide, cytarabine, melphalan) regimen after bridging therapy with ibrutinib. In addition, he received whole-brain irradiation at a dose of 40 Gy in 20 fractions as consolidation therapy. He did not relapse within 3 years of transplantation. To the best of our knowledge, this is the first case report of DLBCL and MCL coexistence.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"26-32"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656220","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

CLINICAL utility of assessing CDKN2A status in recurrent astrocytomas. 评估CDKN2A在复发性星形细胞瘤中的临床应用

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-04-01 Epub Date: 2025-03-13 DOI: 10.1007/s10014-025-00496-1

Hemlata Jangir, Sahil Yadav, M B Hayagrivas, Jyotsna Singh, Sumanta Das, Saumya Sahu, Charli Roy, Mehar Chand Sharma, Chitra Sarkar, Ashish Suri, Vaishali Suri

{"title":"CLINICAL utility of assessing CDKN2A status in recurrent astrocytomas.","authors":"Hemlata Jangir, Sahil Yadav, M B Hayagrivas, Jyotsna Singh, Sumanta Das, Saumya Sahu, Charli Roy, Mehar Chand Sharma, Chitra Sarkar, Ashish Suri, Vaishali Suri","doi":"10.1007/s10014-025-00496-1","DOIUrl":"10.1007/s10014-025-00496-1","url":null,"abstract":"IDH-mutant astrocytomas exhibit a more indolent natural history and better prognosis compared to their IDH-wild type counterparts. WHO 2021 classification integrated CDKN2A/B homozygous deletion as a crucial criterion for grading these tumors, emphasizing its prognostic implications. FISH assay is commonly used to assess CDKN2A status, but guidelines for interpreting FISH results for glioma prognostication are not well-defined in the literature. We conducted an ambispective study involving 22 cases of recurrent IDH-mutant astrocytomas, including primary tumor samples. Histopathological assessments, including WHO grading and molecular profiling, were performed. Immunohistochemistry confirmed IDH mutation status, and FISH analysis evaluated CDKN2A homozygous deletion. Homozygous CDKN2A deletion was detected in only 1/22 (4.8%) of primary tumors, which was grade 3 astrocytoma, and significantly more frequent in recurrent cases, particularly in histological grade 2/3 tumors (35.3%). Patients harboring CDKN2A deletions exhibited significantly poorer overall survival, highlighting its prognostic significance. Our findings highlight the clinical relevance of CDKN2A assessment in recurrent IDH-mutant astrocytomas and its utility as a prognostic marker. We propose a selective approach to FISH testing, focusing on primary grade 3 and all recurrent cases, regardless of histology grade, to optimize diagnostic accuracy and stratification for personalized treatment strategies.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"21-25"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623606","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}

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