Brain Tumor Pathology最新文献_第7页

Three-dimensional visualization of human brain tumors using the CUBIC technique. 使用CUBIC技术的人类脑肿瘤的三维可视化。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-01-01 DOI: 10.1007/s10014-022-00445-2

Yangyang Xu, Qi He, Mengqi Wang, Yang Wu, Yifeng Shi, Wei Wang, Jie Zhang

{"title":"Three-dimensional visualization of human brain tumors using the CUBIC technique.","authors":"Yangyang Xu, Qi He, Mengqi Wang, Yang Wu, Yifeng Shi, Wei Wang, Jie Zhang","doi":"10.1007/s10014-022-00445-2","DOIUrl":"https://doi.org/10.1007/s10014-022-00445-2","url":null,"abstract":"Application of tissue clearing techniques on human brain tumors is still limited. This study was to investigate the application of CUBIC on 3D pathological studies of human brain tumors. Brain tumor specimens derived from 21 patients were cleared with CUBIC. Immunostaining was conducted on cleared specimens to label astrocytes, microglia and microvessels, respectively. All tumor specimens achieved transparency after clearing. Immunostaining and CUBIC are well compatible in a variety of human brain tumors. Spatial morphologies of microvessels, astrocytes and microglia of tumors were clearly visualized in 3D, and their 3D morphological parameters were easily quantified. By comparing the quantitative morphological parameters of microvessels among brain tumors of different malignancy, we found that mean vascular diameter was positively correlated with tumor malignancy. Our study demonstrates that CUBIC can be successfully applied to 3D pathological studies of various human brain tumors, and 3D studies of human brain tumors hold great promise in helping us better understand brain tumor pathology in the future.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 1","pages":"4-14"},"PeriodicalIF":3.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556900","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: 1

Clinical application of a highly sensitive digital PCR assay to detect a small fraction of IDH1 R132H-mutant alleles in diffuse gliomas. 高灵敏度数字PCR检测弥漫性胶质瘤中IDH1 r132h突变等位基因的临床应用

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-10-01 Epub Date: 2022-07-29 DOI: 10.1007/s10014-022-00442-5

Kaishi Satomi, Akihiko Yoshida, Yuko Matsushita, Hirokazu Sugino, Kenji Fujimoto, Mai Honda-Kitahara, Masamichi Takahashi, Makoto Ohno, Yasuji Miyakita, Yoshitaka Narita, Yasushi Yatabe, Junji Shibahara, Koichi Ichimura

{"title":"Clinical application of a highly sensitive digital PCR assay to detect a small fraction of IDH1 R132H-mutant alleles in diffuse gliomas.","authors":"Kaishi Satomi, Akihiko Yoshida, Yuko Matsushita, Hirokazu Sugino, Kenji Fujimoto, Mai Honda-Kitahara, Masamichi Takahashi, Makoto Ohno, Yasuji Miyakita, Yoshitaka Narita, Yasushi Yatabe, Junji Shibahara, Koichi Ichimura","doi":"10.1007/s10014-022-00442-5","DOIUrl":"https://doi.org/10.1007/s10014-022-00442-5","url":null,"abstract":"The current World Health Organization classification of diffuse astrocytic and oligodendroglial tumors requires the examination of isocitrate dehydrogenase 1 (IDH1) or IDH2 mutations. Conventional analysis tools, including Sanger DNA sequencing or pyrosequencing, fail in detecting these variants of low frequency owing to their limited sensitivity. Digital polymerase chain reaction (dPCR) is a recently developed, highly sensitive, and precise quantitative rare variant assay. This study aimed to establish a robust limit of quantitation of the dPCR assay to detect a small fraction of IDH1 R132H mutation. The dPCR assays with serially diluted IDH1 R132H constructs detected 0.05% or more of mutant IDH1 R132H in samples containing mutant DNA. The measured target/total value of the experiments was proportional to the dilution factors and was almost equal to the actual frequencies of the mutant alleles. Based on the average target/total values, together with a twofold standard deviation of the normal DNA, a limit of quantitation of 0.25% was set to secure a safe margin to judge the mutation status of the IDH1 R132H dPCR assay. In clinical settings, detecting IDH1 R132H using dPCR assays can validate ambiguous immunohistochemistry results even when conventional DNA sequencing cannot detect the mutation and assure diagnostic quality.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"210-217"},"PeriodicalIF":3.3,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40556670","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: 1

Aggressive nonfunctioning pituitary neuroendocrine tumors. 侵袭性无功能垂体神经内分泌肿瘤。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-10-01 Epub Date: 2022-06-20 DOI: 10.1007/s10014-022-00441-6

Sérgio Portovedo, Leonardo Vieira Neto, Paula Soares, Denise Pires de Carvalho, Christina Maeda Takiya, Leandro Miranda-Alves

{"title":"Aggressive nonfunctioning pituitary neuroendocrine tumors.","authors":"Sérgio Portovedo, Leonardo Vieira Neto, Paula Soares, Denise Pires de Carvalho, Christina Maeda Takiya, Leandro Miranda-Alves","doi":"10.1007/s10014-022-00441-6","DOIUrl":"https://doi.org/10.1007/s10014-022-00441-6","url":null,"abstract":"Nonfunctioning pituitary neuroendocrine tumors (NF-PitNETs) are tumors that are not associated with clinical evidence of hormonal hypersecretion. According to the World Health Organization (WHO), there are some subtypes of PitNETs that exhibit more aggressive behavior than others. Among the types of potentially aggressive PitNETs, three are nonfunctional: silent sparsely granulated somatotropinomas, silent corticotropinomas, and poorly differentiated PIT-1 lineage tumors. Several biological markers have been investigated in NF-PitNETs. However, there is no single biomarker able to independently predict aggressive behavior in NF-PitNETs. Thus, a more complex and multidisciplinary proposal of a comprehensive definition of aggressive NF-PitNETs is necessary. Here, we suggest a combined and more complete criterion for the NF-PitNETs classification. We propose that aggressiveness is due to a multifactorial combination, and we emphasize the need to include new emerging markers that are involved in the aggressiveness of NF-PitNETs and the need to identify.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"183-199"},"PeriodicalIF":3.3,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40103905","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: 3

Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review. 非典型畸胎瘤/横纹肌样瘤患者的全基因组测序分析:一个病例报告和系统回顾。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-10-01 Epub Date: 2022-06-24 DOI: 10.1007/s10014-022-00440-7

Haruki Yamashita, Yoshiki Arakawa, Yukinori Terada, Yasuhide Takeuchi, Yohei Mineharu, Sosuke Sumiyoshi, Shinya Tokunaga, Kohei Nakajima, Naoko Kawabata, Kuniaki Tanaka, Masahiro Tanji, Katsutsugu Umeda, Sachiko Minamiguchi, Seishi Ogawa, Hironori Haga, Junko Takita, Susumu Miyamoto

{"title":"Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.","authors":"Haruki Yamashita, Yoshiki Arakawa, Yukinori Terada, Yasuhide Takeuchi, Yohei Mineharu, Sosuke Sumiyoshi, Shinya Tokunaga, Kohei Nakajima, Naoko Kawabata, Kuniaki Tanaka, Masahiro Tanji, Katsutsugu Umeda, Sachiko Minamiguchi, Seishi Ogawa, Hironori Haga, Junko Takita, Susumu Miyamoto","doi":"10.1007/s10014-022-00440-7","DOIUrl":"https://doi.org/10.1007/s10014-022-00440-7","url":null,"abstract":"Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities in SMARCB1 located in 22q11.2. We report a case of AT/RT associated with Phelan-McDermid syndrome (PMS) characterized by congenital developmental disorder, mental retardation, and ring chromosome 22 with 22q13.3-qter depletion, for which we performed whole-genome sequencing (WGS). A 4-year-old girl with a developmental disability was referred to our hospital due to dysphoria. Brain magnetic resonance imaging showed a 5-cm well-demarcated mass that extended bilaterally in the frontal lobes. G-banding was performed preoperatively due to a history of developmental retardation. Ring chromosome 22 and deletion of 22q13.3-qter were observed, and she was diagnosed with PMS. She underwent gross total resection of the tumor, and the pathological diagnosis was AT/RT. WGS showed somatic SMARCB1 mutation (p.R201X) and somatic loss of the entire chromosome 22 in the tumor, but not in the blood sample. WGS confirmed previously unreported BRCA2 mutations, 6q loss, and 14q acquisition during tumor progression, but no other significant findings associated with tumor progression. The present case is discussed with reference to a systematic review of previous reports of AT/RT associated with PMS. PMS patients with ring chromosome 22 should be carefully followed up for AT/RT occurrence.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"232-239"},"PeriodicalIF":3.3,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40394946","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: 2

A novel YAP1-MAML2 fusion in an adult supra-tentorial ependymoma, YAP1-fused. 成人幕上室管膜瘤中新的YAP1-MAML2融合，yap1融合。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-10-01 DOI: 10.1007/s10014-022-00439-0

Arnault Tauziède-Espariat, Aurore Siegfried, Yvan Nicaise, Dominique Figarella-Branger, Romain Appay, Suhan Senova, Dorian Bochaton, Lauren Hasty, Anna Martin, Fabrice Chrétien, Alice Métais, Pascale Varlet, Emmanuelle Uro-Coste

引用次数: 2

Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors. 增殖标志物指数和KBTBD4突变在松果体实质肿瘤病理诊断中的作用。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-07-01 Epub Date: 2022-01-09 DOI: 10.1007/s10014-021-00421-2

Eita Uchida, Atsushi Sasaki, Mitsuaki Shirahata, Tomonari Suzuki, Jun-Ichi Adachi, Kazuhiko Mishima, Masanori Yasuda, Takamitsu Fujimaki, Koichi Ichimura, Ryo Nishikawa

{"title":"Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.","authors":"Eita Uchida, Atsushi Sasaki, Mitsuaki Shirahata, Tomonari Suzuki, Jun-Ichi Adachi, Kazuhiko Mishima, Masanori Yasuda, Takamitsu Fujimaki, Koichi Ichimura, Ryo Nishikawa","doi":"10.1007/s10014-021-00421-2","DOIUrl":"https://doi.org/10.1007/s10014-021-00421-2","url":null,"abstract":"Pineal parenchymal tumors (PPTs) are clinically rare and a biopsy is often required for a definitive diagnosis. To improve the accuracy of histological assessment of PPTs, we examined the proliferative capacity of PPT cells and investigated DICER1 expression and KBTBD4 mutations. This study included 19 cases of PPTs [3 pineocytomas (PCs), 10 PPTs of intermediate differentiation (PPTID), and 6 pineoblastomas (PBs)]. Immunohistochemistry for Ki-67, PHH3, and DICER1, as well as Sanger sequencing analysis for KBTBD4 mutations, was performed using formalin-fixed paraffin-embedded tissue specimens that were resected during surgery. Tumor cell proliferation was quantified using an image analysis software. For the PHH3 and MIB-1 indices, a significant difference was observed between the PPTIDs and PBs (P < 0.05). Loss of DICER1 was not specific for PB; 0/3 PCs (0.0%), 2/9 PPTIDs (22.2%), and 2/4 PBs (50.0%). KBTBD4 mutations were detected in 1/3 PCs (33.3%), 6/9 PPTIDs (66.7%), and 0/4 PBs (0.0%). Thus, combined application of the proliferative marker index and KBTBD4 mutation analysis may be useful for the differential diagnosis of PPTs. Furthermore, detection of KBTBD4 mutations using Sanger sequencing analysis may support the diagnosis of PPTID.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 3","pages":"130-138"},"PeriodicalIF":3.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39797482","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: 2

Clinicopathological risk factors for a poor prognosis of primary central nervous system lymphoma in elderly patients in the Tohoku and Niigata area: a multicenter, retrospective, cohort study of the Tohoku Brain Tumor Study Group. 东北和新泻地区老年患者原发性中枢神经系统淋巴瘤预后不良的临床病理危险因素:东北脑肿瘤研究组的多中心、回顾性、队列研究

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-07-01 Epub Date: 2022-03-21 DOI: 10.1007/s10014-022-00427-4

Kenichiro Asano, Yoji Yamashita, Takahiro Ono, Manabu Natsumeda, Takaaki Beppu, Kenichiro Matsuda, Masahiro Ichikawa, Masayuki Kanamori, Masashi Matsuzaka, Akira Kurose, Toshio Fumoto, Kiyoshi Saito, Yukihiko Sonoda, Kuniaki Ogasawara, Yukihiko Fujii, Hiroaki Shimizu, Hiroki Ohkuma, Chifumi Kitanaka, Takamasa Kayama, Teiji Tominaga

{"title":"Clinicopathological risk factors for a poor prognosis of primary central nervous system lymphoma in elderly patients in the Tohoku and Niigata area: a multicenter, retrospective, cohort study of the Tohoku Brain Tumor Study Group.","authors":"Kenichiro Asano, Yoji Yamashita, Takahiro Ono, Manabu Natsumeda, Takaaki Beppu, Kenichiro Matsuda, Masahiro Ichikawa, Masayuki Kanamori, Masashi Matsuzaka, Akira Kurose, Toshio Fumoto, Kiyoshi Saito, Yukihiko Sonoda, Kuniaki Ogasawara, Yukihiko Fujii, Hiroaki Shimizu, Hiroki Ohkuma, Chifumi Kitanaka, Takamasa Kayama, Teiji Tominaga","doi":"10.1007/s10014-022-00427-4","DOIUrl":"https://doi.org/10.1007/s10014-022-00427-4","url":null,"abstract":"Clinicopathological risk factors for a poor prognosis were investigated in elderly patients with malignant lymphoma of the central nervous system. A total of 82 pathologically confirmed, CD20-positive, diffuse large B-cell lymphoma patients aged 71 years or older who underwent therapeutic intervention in the Tohoku and Niigata area in Japan were retrospectively reviewed. A univariate analysis was performed by the log-rank test using the Kaplan-Meier method. A Cox proportional hazards model was used for multivariate analysis of risk factors. Of the 82 patients, 39 were male and 43 were female, and their median age at onset was 75 years. At the end of the study, there were 34 relapse-free patients (41.5%), 48 relapse cases (58.5%), median progression-free survival was 18 months, and median overall survival (OS) was 26 months; there were 41 deaths and 41 survivors. Multivariate analysis of median OS showed that Karnofsky Performance Status less than 60% 3 months after treatment (p = 0.022, hazard ratio (HR) = 2.591) was the clinical risk factor, and double expressor lymphoma (p = 0.004, HR = 3.163), expression of programmed death-ligand 1 in tumor infiltrating lymphocytes or tumor-associated macrophages (p < 0.001, HR = 5.455), and Epstein-Barr virus infection (p = 0.031, HR = 5.304) were the pathological risk factors.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"139-150"},"PeriodicalIF":3.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40310187","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: 3

Prognostic significance of TERT promoter mutations in adult-type diffuse gliomas. TERT启动子突变在成人型弥漫性胶质瘤中的预后意义。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-07-01 Epub Date: 2022-01-31 DOI: 10.1007/s10014-021-00424-z

Hideyuki Arita, Koichi Ichimura

引用次数: 7

Timing of H3K27me3 loss in secondary anaplastic meningiomas. 继发性间变性脑膜瘤中H3K27me3缺失的时间。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-07-01 Epub Date: 2022-01-06 DOI: 10.1007/s10014-021-00422-1

Serena Ammendola, Valeria Barresi

引用次数: 3

Loss of H3K27me3 in WHO grade 3 meningioma 世界卫生组织3级脑膜瘤H3K27me3缺失