Brain Tumor Pathology最新文献_第8页

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

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