Brain Tumor Pathology最新文献_第6页

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

An extracranial CNS presentation of the emerging "intracranial" mesenchymal tumor, FET: CREB-fusion positive. 新出现的“颅内”间充质肿瘤的颅外中枢神经系统表现，FET: creb融合阳性。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-01-01 DOI: 10.1007/s10014-022-00443-4

Arnault Tauziède-Espariat, Gaëlle Pierron, Delphine Guillemot, Chiara Benevello, Johan Pallud, Joseph Benzakoun, Lauren Hasty, Alice Métais, Fabrice Chrétien, Pascale Varlet

{"title":"An extracranial CNS presentation of the emerging \"intracranial\" mesenchymal tumor, FET: CREB-fusion positive.","authors":"Arnault Tauziède-Espariat, Gaëlle Pierron, Delphine Guillemot, Chiara Benevello, Johan Pallud, Joseph Benzakoun, Lauren Hasty, Alice Métais, Fabrice Chrétien, Pascale Varlet","doi":"10.1007/s10014-022-00443-4","DOIUrl":"https://doi.org/10.1007/s10014-022-00443-4","url":null,"abstract":"A novel histomolecular tumor, the \"intracranial mesenchymal tumor (IMT), FET::CREB fusion-positive\", has recently been identified and added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System. One of the essential diagnostic criteria defined in this classification is the intracranial location of the tumor. Herein, we report a spinal case of IMT with a classical EWSR1::CREM fusion. We compare its clinical, histopathological, immunophenotypical, genetic and epigenetic features with those previously described in IMT, FET::CREB fusion-positive. The current case presented histopathological (epithelioid morphology with mucin-rich stroma, and expression of EMA and desmin), radiological (an extraparenchymal lobulated mass without dural tail), genetic (fusion implicating the EWSR1 and CREM genes), and epigenetic (DNA-methylation profiling) similarities to previously reported cases. This case constitutes the third \"extracranial\" observation of an IMT. Our results added data suggesting that the terminology \"IMT, FET::CREB fusion-positive\" is provisional and that further series of cases are needed to better characterize them.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 1","pages":"35-39"},"PeriodicalIF":3.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10497925","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

PBRM1 and BAP1: novel genetic mutations in malignant transformation of craniopharyngioma-a case report. PBRM1和BAP1:颅咽管瘤恶性转化的新基因突变1例

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-01-01 DOI: 10.1007/s10014-022-00444-3

Mitsuru Tamura, Kiyotaka Yokogami, Takashi Watanabe, Tomoki Kawano, Junichiro Muta, Shinji Yamashita, Nobuyuki Oguri, Yuichiro Sato, Hideo Takeshima

{"title":"PBRM1 and BAP1: novel genetic mutations in malignant transformation of craniopharyngioma-a case report.","authors":"Mitsuru Tamura, Kiyotaka Yokogami, Takashi Watanabe, Tomoki Kawano, Junichiro Muta, Shinji Yamashita, Nobuyuki Oguri, Yuichiro Sato, Hideo Takeshima","doi":"10.1007/s10014-022-00444-3","DOIUrl":"https://doi.org/10.1007/s10014-022-00444-3","url":null,"abstract":"Malignant craniopharyngioma is especially rare, so the causes and genetic mutations associated with the malignant transformation have not been explained in detail. We investigated the molecular genetic characteristics of malignant transformation in craniopharyngioma. A 53-year-old man with a history of adamantinomatous craniopharyngioma presented with complaints of subcutaneous swelling. Magnetic resonance imaging showed a less enhanced intradural supra-sellar lesion and a heterogeneously well-enhanced extradural invasive lesion infiltrating the dura mater, brain, frontal bone, and subcutaneous tissue. Histopathological examination of the recurrent tumor revealed typical findings of both craniopharyngioma (intradural supra-sellar lesion) and malignant transformation, such as marked nuclear atypia with mitosis (invasive extradural lesion), which were not present in the primary tumor. A genetic panel test with the Oncopanel system was performed to investigate the genetic mutations responsible for the malignant transformation. Four genetic mutations were identified: CTNNB1 c.C98T, TP53 p.C135fs*35(PLS = 3 UPD/LOH), PBRM1 p.R1000*(PLS = 3 UPD/LOH), and BAP1 p.L650fs*5(PLS = 3 UPD/LOH). Sanger sequencing showed CTNNB1 in both the intradural supra-sellar and extradural invasive lesions, but TP53, PBRM1, and BAP1 only in the extradural invasive lesion. The genetic mutations of PBRM1 and BAP1 may be genetic factors in the malignant transformation of adamantinomatous craniopharyngioma.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 1","pages":"40-44"},"PeriodicalIF":3.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10850349","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

Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma. 多形性黄色星形细胞瘤MTAP免疫组化缺陷与CDKN2A纯合缺失及临床病理特征的相关性

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-01-01 DOI: 10.1007/s10014-022-00447-0

Lei Lou, Jiajun Li, Manman Qin, Xiaoxi Tian, Wenli Guo, Yuehong Li

{"title":"Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.","authors":"Lei Lou, Jiajun Li, Manman Qin, Xiaoxi Tian, Wenli Guo, Yuehong Li","doi":"10.1007/s10014-022-00447-0","DOIUrl":"https://doi.org/10.1007/s10014-022-00447-0","url":null,"abstract":"Pleomorphic xanthoastrocytoma (PXA) is a rare tumor ranging from World Health Organization (WHO) grades 2-3 and can potentially recur and metastasize throughout the central nervous system (CNS). Cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) deletion is a frequent genomic alteration of PXA. Methylthioadenosine phosphorylase (MTAP) immunohistochemistry is a promising surrogate marker for CDKN2A homozygous deletion in different cancers but has not been examined in PXA. Therefore, we performed CDKN2A fluorescence in situ hybridization and MTAP immunohistochemistry on specimens from 23 patients with CNS WHO grades 2 (n = 10) and 3 (n = 13) PXAs, including specimens from primary and recurrent tumors, and determined whether MTAP immunohistochemistry correlated with CDKN2A homozygous deletion and clinicopathological features. CDKN2A homozygous deletion was detected in 30% (3/10) and 76.9% (10/13) of CNS WHO grades 2 and 3 PXAs, respectively. In addition, MTAP loss was inconsistent with CDKN2A homozygous deletion (sensitivity = 86.7%, specificity = 100%). Furthermore, CDKN2A homozygous deletion was correlated with WHO grade (p = 0.026) and the Ki-67 labeling index (p = 0.037). Therefore, MTAP immunostaining can be a suitable surrogate marker for CDKN2A homozygous deletions in PXAs, and CDKN2A homozygous deletions may be an important prognostic factor for PXAs.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 1","pages":"15-25"},"PeriodicalIF":3.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10501808","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

Morphologically, genetically and spatially mixed astrocytoma and oligodendroglioma; chronological acquisition of 1p/19q codeletion and CDKN2A deletion: a case report. 星形细胞瘤和少突胶质细胞瘤在形态、遗传和空间上的混合;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 : 2023-01-01 DOI: 10.1007/s10014-022-00448-z

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

{"title":"Morphologically, genetically and spatially mixed astrocytoma and oligodendroglioma; chronological acquisition of 1p/19q codeletion and CDKN2A deletion: a case report.","authors":"Hirokazu Takami, Akitake Mukasa, Shunsaku Takayanagi, Tsukasa Koike, Reiko Matsuura, Masako Ikemura, Tetsuo Ushiku, Gakushi Yoshikawa, Junji Shibahara, Shota Tanaka, Nobuhito Saito","doi":"10.1007/s10014-022-00448-z","DOIUrl":"https://doi.org/10.1007/s10014-022-00448-z","url":null,"abstract":"\"Oligoastrocytoma\" disappeared as of the revised fourth edition of the World Health Organization Classification of Tumours of the Central Nervous System, except where appended with \"not otherwise specified (NOS)\". However, histopathological and genetic backgrounds of cases with dual features of astrocytoma/oligodendroglioma have been sparsely reported. We encountered a 54-year-old man with right frontal glioma comprising two distinct parts on imaging and histopathological examination: grade 4 astrocytoma with IDH1-R132H, ATRX loss, p53-positivity and intact 1p/19q; and oligodendroglioma with IDH1-R132H, intact ATRX, p53-negativity and partially deleted 1p/19q. At recurrence, histopathology showed low-grade mixed astrocytic and oligodendroglial features: the former with IDH1-R132H, ATRX loss, p53-positivity and intact 1p/19q and the latter showing IDH1-R132H, intact ATRX, p53-negativity and 1p/19q codeletion. At second recurrence, histopathology was astrocytoma grade 4 with IDH1-R132H, ATRX loss, p53-positivity and intact 1p/19q. Notably, 1p/19q codeletion was acquired at recurrence and CDKN2A was deleted at second recurrence. These findings suggest insights into tumorigenesis: (1) gliomas with two distinct lineages might mix to produce \"oligoastrocytoma\"; and (2) 1p/19q codeletion and CDKN2A deletion might be acquired during chemo-radiotherapy. Ultimately, astrocytic and oligodendroglial clones might co-exist developmentally or these two lineages might share a common cell-of-origin, with IDH1-R132H as the shared molecular feature.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 1","pages":"26-34"},"PeriodicalIF":3.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10544020","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