Brain Tumor Pathology最新文献_第7页

Impact of tumor markers on diagnosis, treatment and prognosis in CNS germ cell tumors: correlations with clinical practice and histopathology. 肿瘤标志物对中枢神经系统生殖细胞肿瘤诊断、治疗和预后的影响:与临床实践和组织病理学的相关性

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00460-x

Hirokazu Takami, Christopher S Graffeo, Avital Perry, Caterina Giannini, Yoichi Nakazato, Nobuhito Saito, Masao Matsutani, Ryo Nishikawa, David J Daniels, Koichi Ichimura

{"title":"Impact of tumor markers on diagnosis, treatment and prognosis in CNS germ cell tumors: correlations with clinical practice and histopathology.","authors":"Hirokazu Takami, Christopher S Graffeo, Avital Perry, Caterina Giannini, Yoichi Nakazato, Nobuhito Saito, Masao Matsutani, Ryo Nishikawa, David J Daniels, Koichi Ichimura","doi":"10.1007/s10014-023-00460-x","DOIUrl":"https://doi.org/10.1007/s10014-023-00460-x","url":null,"abstract":"Tumor markers in CNS germ cell tumors (GCTs) include human chorionic gonadotropin (HCG) and alpha fetoprotein (AFP), which have significant diagnostic implications, as elevation of either one leads to clinical diagnosis of non-germinomatous GCTs without histopathological confirmation, justifying intensified chemotherapy and irradiation. The current study, based on an international cohort of histopathologically verified GCTs that underwent biopsy (n = 85) or resection (n = 76), sought to better define the clinical role and prognostic significance of tumor markers from serum and CSF in this challenging patient population. We found that HCG was elevated only in cases with a germinoma or choriocarcinoma component, and there existed a clear cut-off HCG value between the two. AFP was often elevated in GCTs without a yolk sac tumor component, especially immature teratoma. HCG was elevated only in CSF in 3-of-52 cases, and AFP was elevated only in serum in 7-of-49 cases, emphasizing the potential utilization of both serum and CSF studies. Immature teratoma demonstrated unfavorable prognosis independent of tumor marker status, with 56% 5-year overall survival; however, co-existent germinoma components indicated a more favorable prognosis. Taken together, the study findings emphasize the importance for routine assessment and guarded interpretation of tumor markers in CNS GCTs.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"124-132"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10113344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9335562","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

Clinical, histopathological and molecular risk factors for recurrence of pilocytic astrocytomas: brainstem/spinal location, nestin expression and gain of 7q and 19 are associated with early tumor recurrence. 毛细胞星形细胞瘤复发的临床、组织病理及分子危险因素:脑干/脊柱部位、巢蛋白表达及7q、19的增加与肿瘤早期复发相关。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00453-w

Ryota Tamura, Akio Iwanami, Kentaro Ohara, Masaaki Nishimoto, Eriel Sandika Pareira, Tomoru Miwa, Naoko Tsuzaki, Yuki Kuranari, Yukina Morimoto, Masahiro Toda, Hideyuki Okano, Masaya Nakamura, Kazunari Yoshida, Hikaru Sasaki

{"title":"Clinical, histopathological and molecular risk factors for recurrence of pilocytic astrocytomas: brainstem/spinal location, nestin expression and gain of 7q and 19 are associated with early tumor recurrence.","authors":"Ryota Tamura, Akio Iwanami, Kentaro Ohara, Masaaki Nishimoto, Eriel Sandika Pareira, Tomoru Miwa, Naoko Tsuzaki, Yuki Kuranari, Yukina Morimoto, Masahiro Toda, Hideyuki Okano, Masaya Nakamura, Kazunari Yoshida, Hikaru Sasaki","doi":"10.1007/s10014-023-00453-w","DOIUrl":"https://doi.org/10.1007/s10014-023-00453-w","url":null,"abstract":"Pilocytic astrocytomas (PAs) are benign tumors. However, clinically aggressive PAs despite benign histology have been reported, and histological and molecular risk factors for prognosis have not been elucidated. 38 PAs were studied for clinical, histological, and molecular factors, including tumor location, extent of resection, post-operative treatment, glioma-associated molecules (IDH1/2, ATRX, BRAF, FGFR1, PIK3CA, H3F3A, p53, VEGF, Nestin, PD-1/PD-L1), CDKN2A/B deletion, and chromosomal number aberrations, to see if there is any correlation with patient's progression-free survival (PFS). Brainstem/spinal location, extent of resection and post-operative treatment, and VEGF-A, Nestin and PD-L1 expression, copy number gain of chromosome 7q or 19, TP53 mutation were significantly associated with shorter PFS. None of the histological parameters was associated with PFS. Multivariate analyses demonstrated that high Nestin expression, gain of 7q or 19, and extent of removal were independently predictive for early tumor recurrence. The brainstem/spinal PAs appeared distinct from those in the other sites in terms of molecular characteristics. Clinically aggressive PAs despite benign histology exhibited high Nestin expression. Brainstem/spinal location, extent of resection and some molecular factors including Nestin expression and gains of 7q and 19, rather than histological parameters, may be associated with early tumor recurrence in PAs.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"109-123"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9680581","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

Correction: Morphologically, genetically and spatially mixed astrocytoma and oligodendroglioma; chronological acquisition of 1p/19q codeletion and CDKN2A deletion: a case report. 更正:星形细胞瘤和少突胶质细胞瘤在形态、遗传和空间上混合;1p/19q编码缺失和CDKN2A缺失:1例报告。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00449-6

Hirokazu Takami, Akitake Mukasa, Shunsaku Takayanagi, Tsukasa Koike, Reiko Matsuura, Masako Ikemura, Tetsuo Ushiku, Gakushi Yoshikawa, Junji Shibahara, Shota Tanaka, Nobuhito Saito

引用次数: 0

Clinical characteristics and radiological features of glioblastoma, IDH-wildtype, grade 4 with histologically lower-grade gliomas. 胶质母细胞瘤的临床特征和影像学特征，idh野生型，4级伴组织学级别较低的胶质瘤。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00458-5

Kazuya Motomura, Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Ryuta Saito

{"title":"Clinical characteristics and radiological features of glioblastoma, IDH-wildtype, grade 4 with histologically lower-grade gliomas.","authors":"Kazuya Motomura, Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Ryuta Saito","doi":"10.1007/s10014-023-00458-5","DOIUrl":"https://doi.org/10.1007/s10014-023-00458-5","url":null,"abstract":"The 2021 World Health Organization (WHO) classification of central nervous system tumors applied molecular criteria and further integrated histological and molecular diagnosis of gliomas. This classification allows for the diagnosis of isocitrate dehydrogenase wild-type (IDHwt) glioblastoma (GBM), and WHO grade 4 with histologically lower-grade gliomas (LrGGs), even in the absence of high-grade histopathologic features, such as necrosis and/or microvascular proliferation. They contain at least one of the following molecular features: epidermal growth factor receptor amplification, chromosome 7 gain/10 loss, or telomerase reverse transcriptase promoter mutation. In the imaging features at the time of histological diagnosis, a gliomatosis cerebri growth pattern was frequently observed in these tumors. Furthermore, this growth pattern was significantly higher in IDHwt GBM, WHO grade 4, with histological grade II gliomas. Although the exact prognosis of IDHwt GBM, WHO grade 4, with histologically LGGs remains unknown, its OS was approximately 1-2 years similar to that of histologically IDHwt GBM, WHO grade 4, despite histopathological features similar to IDHmut LrGGs. These findings reinforce the need for the analysis of molecular features, regardless of presenting similar clinical characteristics and imaging features to IDHmut LrGGs.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"48-55"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9696132","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

Easy-to-use machine learning system for the prediction of IDH mutation and 1p/19q codeletion using MRI images of adult-type diffuse gliomas. 利用成人型弥漫性胶质瘤MRI图像预测IDH突变和1p/19q编码的易于使用的机器学习系统。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00459-4

Tomohide Nishikawa, Fumiharu Ohka, Kosuke Aoki, Hiromichi Suzuki, Kazuya Motomura, Junya Yamaguchi, Sachi Maeda, Yuji Kibe, Hiroki Shimizu, Atsushi Natsume, Hideki Innan, Ryuta Saito

{"title":"Easy-to-use machine learning system for the prediction of IDH mutation and 1p/19q codeletion using MRI images of adult-type diffuse gliomas.","authors":"Tomohide Nishikawa, Fumiharu Ohka, Kosuke Aoki, Hiromichi Suzuki, Kazuya Motomura, Junya Yamaguchi, Sachi Maeda, Yuji Kibe, Hiroki Shimizu, Atsushi Natsume, Hideki Innan, Ryuta Saito","doi":"10.1007/s10014-023-00459-4","DOIUrl":"https://doi.org/10.1007/s10014-023-00459-4","url":null,"abstract":"Adult-type diffuse gliomas are divided into Astrocytoma, IDH-mutant, Oligodendroglioma, IDH-mutant and 1p/19q-codeleted and Glioblastoma, IDH-wildtype based on the IDH mutation, and 1p/19q codeletion status. To determine the treatment strategy for these tumors, pre-operative prediction of IDH mutation and 1p/19q codeletion status might be effective. Computer-aided diagnosis (CADx) systems using machine learning have been noted as innovative diagnostic methods. However, it is difficult to promote the clinical application of machine learning systems at each institute because the support of various specialists is essential. In this study, we established an easy-to-use computer-aided diagnosis system using Microsoft Azure Machine Learning Studio (MAMLS) to predict these statuses. We constructed an analysis model using 258 adult-type diffuse glioma cases from The Cancer Genome Atlas (TCGA) cohort. Using MRI T2-weighted images, the overall accuracy, sensitivity, and specificity for the prediction of IDH mutation and 1p/19q codeletion were 86.9%, 80.9%, and 92.0%, and 94.7%, 94.1%, and 95.1%, respectively. We also constructed an reliable analysis model for the prediction of IDH mutation and 1p/19q codeletion using an independent Nagoya cohort including 202 cases. These analysis models were established within 30 min. This easy-to-use CADx system might be useful for the clinical application of CADx in various institutes.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"85-92"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9327021","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

Utility of real-time polymerase chain reaction for the assessment of CDKN2A homozygous deletion in adult-type IDH-mutant astrocytoma. 实时聚合酶链反应用于评估成人型idh突变星形细胞瘤中CDKN2A纯合缺失的效用。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00450-z

Yuzaburo Shimizu, Mario Suzuki, Osamu Akiyama, Ikuko Ogino, Yuko Matsushita, Kaishi Satomi, Shunsuke Yanagisawa, Makoto Ohno, Masamichi Takahashi, Yasuji Miyakita, Yoshitaka Narita, Koichi Ichimura, Akihide Kondo

{"title":"Utility of real-time polymerase chain reaction for the assessment of CDKN2A homozygous deletion in adult-type IDH-mutant astrocytoma.","authors":"Yuzaburo Shimizu, Mario Suzuki, Osamu Akiyama, Ikuko Ogino, Yuko Matsushita, Kaishi Satomi, Shunsuke Yanagisawa, Makoto Ohno, Masamichi Takahashi, Yasuji Miyakita, Yoshitaka Narita, Koichi Ichimura, Akihide Kondo","doi":"10.1007/s10014-023-00450-z","DOIUrl":"https://doi.org/10.1007/s10014-023-00450-z","url":null,"abstract":"The World Health Organization Classification of Tumors of the Central Nervous System 5th Edition (WHO CNS5) introduced a newly defined astrocytoma, IDH-mutant grade 4, for adult diffuse glioma classification. One of the diagnostic criteria is the presence of a CDKN2A/B homozygous deletion (HD). Here, we report a robust and cost-effective quantitative polymerase chain reaction (qPCR)-based test for assessing CDKN2A HD. A TaqMan copy number assay was performed using a probe located within CDKN2A. The linear correlation between the Ct values and relative CDKN2A copy number was confirmed using a serial mixture of DNA from normal blood and U87MG cells. The qPCR assay was performed in 109 IDH-mutant astrocytomas, including 14 tumors with CDKN2A HD, verified either by multiplex ligation-dependent probe amplification (MLPA) or CytoScan HD microarray platforms. Receiver operating characteristic curve analysis indicated that a cutoff value of 0.85 yielded optimal sensitivity (100%) and specificity (99.0%) for determining CDKN2A HD. The assay applies to DNA extracted from frozen or formalin-fixed paraffin-embedded tissue samples. Survival was significantly shorter in patients with than in those without CDKN2A HD, assessed by either MLPA/CytoScan or qPCR. Thus, our qPCR method is clinically applicable for astrocytoma grading and prognostication, compatible with the WHO CNS5.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"93-100"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9317751","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

Spatial metabolic heterogeneity of oligodendrogliomas at single-cell resolution. 单细胞分辨率下少突胶质细胞瘤的空间代谢异质性。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00455-8

Sai Batchu, Michael Joseph Diaz, Giona Kleinberg, Brandon Lucke-Wold

{"title":"Spatial metabolic heterogeneity of oligodendrogliomas at single-cell resolution.","authors":"Sai Batchu, Michael Joseph Diaz, Giona Kleinberg, Brandon Lucke-Wold","doi":"10.1007/s10014-023-00455-8","DOIUrl":"https://doi.org/10.1007/s10014-023-00455-8","url":null,"abstract":"Oligodendrogliomas are a type of rare and incurable gliomas whose metabolic profiles have yet to be fully examined. The present study examined the spatial differences in metabolic landscapes underlying oligodendrogliomas and should provide unique insights into the metabolic characteristics of these uncommon tumors. Single-cell RNA-sequencing expression profiles from 4044 oligodendroglioma cells derived from tumors resected from four locations frontal, temporal, parietal, and frontotemporoinsular) and in which 1p/19q co-deletion and IDH1 or IDH2 mutations were confirmed were computationally analyzed through a robust workflow to elucidate relative differences in metabolic pathway activities among the different locations. Dimensionality reduction using metabolic expression profiles exhibited clustering corresponding to each location subgroup. From the 80 metabolic pathways examined, over 70 pathways had significantly different activity scores between location subgroups. Further analysis of metabolic heterogeneity suggests that mitochondrial oxidative phosphorylation accounts for considerable metabolic variation within the same locations. Steroid and fatty acid metabolism pathways were also found to be major contributors to heterogeneity. Oligodendrogliomas display distinct spatial metabolic differences in addition to intra-location metabolic heterogeneity.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"101-108"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9326213","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

Preface for Brain Tumor Pathology vol.40 issue 2 : (Special issue for the 40th Annual Meeting of the Japan Society of Brain Tumor Pathology). 脑肿瘤病理学第40卷第2期序言:(日本脑肿瘤病理学学会第40届年会特刊)。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00456-7

Atsushi Sasaki

引用次数: 1

High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report. 高级别神经上皮肿瘤伴EP300:: bor融合及bor免疫组化阴性表达1例

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-04-01 DOI: 10.1007/s10014-023-00451-y

Hirokazu Sugino, Kaishi Satomi, Taisuke Mori, Yuuki Mukai, Mai Honda-Kitahara, Yuko Matsushita, Koichi Ichimura, Yoshitaka Narita, Akihiko Yoshida

{"title":"High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report.","authors":"Hirokazu Sugino, Kaishi Satomi, Taisuke Mori, Yuuki Mukai, Mai Honda-Kitahara, Yuko Matsushita, Koichi Ichimura, Yoshitaka Narita, Akihiko Yoshida","doi":"10.1007/s10014-023-00451-y","DOIUrl":"https://doi.org/10.1007/s10014-023-00451-y","url":null,"abstract":"In the World Health Organization tumor classification (fifth edition), central nervous system (CNS) tumors with BCOR internal tandem duplications have been recognized as a new tumor type. Some recent studies have reported CNS tumors with EP300::BCOR fusions, predominantly in children and young adults, expanding the spectrum of BCOR-altered CNS tumors. This study reports a new case of high-grade neuroepithelial tumor (HGNET) with an EP300::BCOR fusion in the occipital lobe of a 32-year-old female. The tumor displayed anaplastic ependymoma-like morphologies characterized by a relatively well-circumscribed solid growth with perivascular pseudorosettes and branching capillaries. Immunohistochemically, OLIG2 was focally positive and BCOR was negative. RNA sequencing revealed an EP300::BCOR fusion. The Deutsches Krebsforschungszentrum DNA methylation classifier (v12.5) classified the tumor as CNS tumor with BCOR/BCORL1 fusion. The t-distributed stochastic neighbor embedding analysis plotted the tumor close to the HGNET with BCOR alteration reference samples. BCOR/BCORL1-altered tumors should be included in the differential diagnosis of supratentorial CNS tumors with ependymoma-like histological features, especially when they lack ZFTA fusion or express OLIG2 even in the absence of BCOR expression. Analysis of published CNS tumors with BCOR/BCORL1 fusions revealed partly overlapping but not identical phenotypes. Further studies of additional cases are required to establish their classification.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 2","pages":"133-141"},"PeriodicalIF":3.3,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9324879","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

Update of the 2021 WHO classification of tumors of the central nervous system: adult diffuse gliomas. 世卫组织2021年中枢神经系统肿瘤分类更新:成人弥漫性胶质瘤。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-01-01 DOI: 10.1007/s10014-022-00446-1

Takashi Komori

引用次数: 4