Brain Tumor Pathology最新文献

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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":"<p><p>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.</p>","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":"<p><p>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.</p>","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":"<p><p>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.</p>","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":"<p><p>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.</p>","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":"<p><p>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.</p>","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":"<p><p>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.</p>","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}
引用次数: 0
Progression of long-term "untreated" oligodendroglioma cases: possible contribution of genomic instability. 长期“未经治疗”的少突胶质细胞瘤病例的进展:基因组不稳定性的可能贡献。
IF 2.7 3区 医学
Brain Tumor Pathology Pub Date : 2025-04-01 Epub Date: 2025-02-26 DOI: 10.1007/s10014-025-00497-0
Kenta Masui, Hiromi Onizuka, Yoshihiro Muragaki, Takakazu Kawamata, Atsushi Kurata, Takashi Komori
{"title":"Progression of long-term \"untreated\" oligodendroglioma cases: possible contribution of genomic instability.","authors":"Kenta Masui, Hiromi Onizuka, Yoshihiro Muragaki, Takakazu Kawamata, Atsushi Kurata, Takashi Komori","doi":"10.1007/s10014-025-00497-0","DOIUrl":"10.1007/s10014-025-00497-0","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"43-47"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499304","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
Visualizing the endothelial glycocalyx in human glioma vasculature. 人胶质瘤血管中内皮糖萼的可视化。
IF 2.7 3区 医学
Brain Tumor Pathology Pub Date : 2025-04-01 Epub Date: 2025-03-04 DOI: 10.1007/s10014-025-00498-z
Kazufumi Ohmura, Hiroyuki Tomita, Hideshi Okada, Noriyuki Nakayama, Naoyuki Ohe, Tsuyoshi Izumo, Akira Hara
{"title":"Visualizing the endothelial glycocalyx in human glioma vasculature.","authors":"Kazufumi Ohmura, Hiroyuki Tomita, Hideshi Okada, Noriyuki Nakayama, Naoyuki Ohe, Tsuyoshi Izumo, Akira Hara","doi":"10.1007/s10014-025-00498-z","DOIUrl":"10.1007/s10014-025-00498-z","url":null,"abstract":"<p><p>Gliomas are the most common primary brain tumors in adults. However, glioblastoma is especially difficult to treat despite advancements in treatment. Therefore, new and more effective treatments are needed. The endothelial glycocalyx covers the luminal surface of the endothelium and plays an important role in vascular homeostasis. Tumor blood vessels normally have increased permeability, but some of them mimic normal cerebral blood vessels constituting the blood-brain barrier and retain drug-barrier function. Therefore, brain tumor vessels are considered to constitute the blood-tumor barrier. There are few reports on the endothelial glycocalyx in human brain tumor vessels. We aimed to visualize the endothelial glycocalyx in human brain tumor vessels and evaluate its microstructural differences in glioma vessels and normal capillaries. Surgical specimens from patients with glioma who underwent tumor resection at our institution were evaluated. We visualized the microstructures of the brain tumor vessels in human glioma specimens using electron microscopy with lanthanum nitrate. The endothelial glycocalyx was identified in the human glioma vasculature and its microstructure varied between the tumor margin and core. These variations may influence tumor angiogenesis and vascular remodeling, contributing to advancements in targeted therapies and diagnostics for human gliomas.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"33-42"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11993481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540152","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
Tectal glioma: clinical, radiological, and pathological features, and the importance of molecular analysis. 构造胶质瘤:临床、放射学和病理学特征以及分子分析的重要性。
IF 2.7 3区 医学
Brain Tumor Pathology Pub Date : 2025-01-01 Epub Date: 2024-10-21 DOI: 10.1007/s10014-024-00494-9
Ryoji Imoto, Yoshihiro Otani, Kentaro Fujii, Joji Ishida, Shuichiro Hirano, Naoya Kemmotsu, Yasuki Suruga, Ryo Mizuta, Yasuhito Kegoya, Yohei Inoue, Tsuyoshi Umeda, Madoka Hokama, Kana Washio, Hiroyuki Yanai, Shota Tanaka, Kaishi Satomi, Koichi Ichimura, Isao Date
{"title":"Tectal glioma: clinical, radiological, and pathological features, and the importance of molecular analysis.","authors":"Ryoji Imoto, Yoshihiro Otani, Kentaro Fujii, Joji Ishida, Shuichiro Hirano, Naoya Kemmotsu, Yasuki Suruga, Ryo Mizuta, Yasuhito Kegoya, Yohei Inoue, Tsuyoshi Umeda, Madoka Hokama, Kana Washio, Hiroyuki Yanai, Shota Tanaka, Kaishi Satomi, Koichi Ichimura, Isao Date","doi":"10.1007/s10014-024-00494-9","DOIUrl":"10.1007/s10014-024-00494-9","url":null,"abstract":"<p><p>Tectal glioma (TG) is a rare lower grade glioma (LrGG) that occurs in the tectum, mainly affecting children. TG shares pathological similarities with pilocytic astrocytoma (PA), but recent genetic analyses have revealed distinct features, such as alterations in KRAS and BRAF. We conducted a retrospective review of cases clinically diagnosed as TG and treated at our institute between January 2005 and March 2023. Six cases were identified and the median age was 30.5 years. Four patients underwent biopsy and two patients underwent tumor resection. Histological diagnoses included three cases of PA, one case of astrocytoma, and two cases of high-grade glioma. The integrated diagnosis, according to the fifth edition of the World Health Organization Classification of Tumours of the central nervous system, included two cases of PA and one case each of diffuse high-grade glioma; diffuse midline glioma H3 K27-altered; glioblastoma; and circumscribed astrocytic glioma. Among the three patients who underwent molecular evaluation, two had KRAS mutation and one had H3-3A K27M mutation. Our results demonstrate the diverse histological and molecular characteristics of TG distinct from other LrGGs. Given the heterogeneous pathological background and the risk of pathological progression in TG, we emphasize the importance of comprehensive diagnosis, including molecular evaluation.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"1-11"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458418","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
Primary intracranial sarcoma associated with DICER1 mutant: a case report and preclinical investigation. 与 DICER1 突变体相关的原发性颅内肉瘤:病例报告和临床前研究。
IF 2.7 3区 医学
Brain Tumor Pathology Pub Date : 2025-01-01 Epub Date: 2024-11-10 DOI: 10.1007/s10014-024-00495-8
Hirokuni Honma, Kensuke Tateishi, Hiromichi Iwashita, Yohei Miyake, Shinichi Tsujimoto, Hiroaki Hayashi, Fukutaro Ohgaki, Yoshiko Nakano, Koichi Ichimura, Shoji Yamanaka, Motohiro Kato, Satoshi Fujii, Shuichi Ito, Hideaki Yokoo, Tetsuya Yamamoto
{"title":"Primary intracranial sarcoma associated with DICER1 mutant: a case report and preclinical investigation.","authors":"Hirokuni Honma, Kensuke Tateishi, Hiromichi Iwashita, Yohei Miyake, Shinichi Tsujimoto, Hiroaki Hayashi, Fukutaro Ohgaki, Yoshiko Nakano, Koichi Ichimura, Shoji Yamanaka, Motohiro Kato, Satoshi Fujii, Shuichi Ito, Hideaki Yokoo, Tetsuya Yamamoto","doi":"10.1007/s10014-024-00495-8","DOIUrl":"10.1007/s10014-024-00495-8","url":null,"abstract":"<p><p>Primary intracranial sarcoma (PIS) is a rare and aggressive pediatric brain tumor, which is partially associated with DICER1 mutant. Although the molecular genetic characteristics of this tumor have previously been investigated, novel therapeutic targets remain unclear. Further, the lack of faithful preclinical models has hampered the development of novel therapeutic strategies. Herein, we describe a pediatric case of PIS with DICER1 mutant and describe the development of the first novel patient-derived xenograft (PDX) model of this rare tumor. Somatic genomic profiling of the tumor revealed mutations in DICER1, TP53, and ATRX. Germline analysis further revealed a pathogenic variant of DICER1, significant for the diagnosis and management of hereditary tumor predisposition syndrome. Overall, we demonstrated that the PDX model faithfully retained the phenotype and genotype of the patient's tumor, as well as the DNA methylation profile. Through high-throughput drug screening using PDX tumor cells, we found that activation of the retinoic acid receptor (RAR) signaling pathway reduced tumor cell viability. These findings indicate that the RAR signaling pathway is a potential therapeutic target for PIS in DICER1 mutant.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"12-20"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614962","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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