Brain Tumor Pathology最新文献_第10页

Central nervous system ALK-negative anaplastic large cell lymphoma with IRF4/DUSP22 rearrangement. 中枢神经系统alk阴性间变性大细胞淋巴瘤伴IRF4/DUSP22重排。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-01-01 Epub Date: 2021-11-18 DOI: 10.1007/s10014-021-00415-0

Shino Magaki, Radha Satyadev, Zesheng Chen, Kathryn S Yung, Harry V Vinters, Marsha C Kinney, Jonathan W Said

{"title":"Central nervous system ALK-negative anaplastic large cell lymphoma with IRF4/DUSP22 rearrangement.","authors":"Shino Magaki, Radha Satyadev, Zesheng Chen, Kathryn S Yung, Harry V Vinters, Marsha C Kinney, Jonathan W Said","doi":"10.1007/s10014-021-00415-0","DOIUrl":"https://doi.org/10.1007/s10014-021-00415-0","url":null,"abstract":"Anaplastic large cell lymphomas (ALCL) are mature T-cell neoplasms, approximately half of which harbor rearrangements of the ALK gene that confer a good prognosis. Recent studies have demonstrated that a significant proportion of ALK-negative ALCLs demonstrate rearrangements of the IRF4/DUSP22 locus that also are typically associated with a favorable prognosis. ALCL with primary involvement of the central nervous system (CNS) is extremely rare. We report what may be the first case of ALK-negative ALCL with IRF4/DUSP22 rearrangement involving the brain in a 55-year-old man. Magnetic resonance imaging demonstrated signal abnormalities in the periventricular region, corpus callosum and cingulate gyrus. Biopsy revealed a diffuse parenchymal and angiocentric infiltrate of CD30-positive cells that showed IRF4/DUSP22 rearrangement by fluorescence in situ hybridization. We also review the clinical and pathologic features of primary CNS ALK-negative ALCLs in the literature and highlight the need for awareness of this entity to optimize appropriate management.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 1","pages":"25-34"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39743867","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: 2

Correction to: Epithelioid inflammatory myofibroblastic sarcoma with VCL-ALK fusion of central nervous system: case report and brief review of the literature. 纠正:中枢神经系统VCL-ALK融合的上皮样炎性肌纤维母细胞肉瘤:病例报告及文献综述。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2022-01-01 DOI: 10.1007/s10014-021-00425-y

Shefali Chopra, Nolan Maloney, Wei Lien Wang

引用次数: 0

Revisiting vimentin: a negative surrogate marker of molecularly defined oligodendroglioma in adult type diffuse glioma. 重新审视vimentin:成人型弥漫性胶质瘤中分子定义的少突胶质细胞瘤的阴性替代标记物。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-10-01 Epub Date: 2021-08-02 DOI: 10.1007/s10014-021-00411-4

Seong-Ik Kim, Kwanghoon Lee, Jeongmo Bae, Sungyoung Lee, Hongseok Yun, Chul-Kee Park, Seung Hong Choi, Christopher Alec Maquiling, Sung-Hye Park, Jae-Kyung Won

{"title":"Revisiting vimentin: a negative surrogate marker of molecularly defined oligodendroglioma in adult type diffuse glioma.","authors":"Seong-Ik Kim, Kwanghoon Lee, Jeongmo Bae, Sungyoung Lee, Hongseok Yun, Chul-Kee Park, Seung Hong Choi, Christopher Alec Maquiling, Sung-Hye Park, Jae-Kyung Won","doi":"10.1007/s10014-021-00411-4","DOIUrl":"https://doi.org/10.1007/s10014-021-00411-4","url":null,"abstract":"Vimentin is a marker of epithelial-mesenchymal transformation and indicates poor prognosis in various cancers, but its role in diffuse gliomas remains unknown. We investigated the vimentin expression of diffuse gliomas according to the upcoming 2021 WHO classification, its variations due to mutational status, and its prognostic effects. We analyzed vimentin immunohistochemistry in 315 gliomas: a test set (n = 164) and a validation set (n = 151). RNA-seq and mutational information from The Cancer Genome Atlas (TCGA, n = 422) were also used for validation. Vimentin was diffusely positive in astrocytic tumors but negative in oligodendroglial tumors (ODGs) and its expression was significantly higher in isocitrate dehydrogenase (IDH) wild-type tumors. High vimentin expression was correlated with poor prognosis (hazard ratio [HR]: 5.99), but it was dependent on the new WHO grade which reflects both histologic features and genetics (HR: 1.28). Using the significant difference in vimentin expression between ODGs and astrocytic tumors, the positive and negative predictive values of the vimentin-based diagnosis for ODGs were 93.5% and 97.8% in the validation set. Along with additional alpha-thalassemia/mental retardation, X-linked (ATRX) immunohistostaining, the values were 98.3% and 97.8%, respectively. Vimentin is a useful ancillary marker for identifying ODGs when combined with routine histochemistry markers.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 4","pages":"271-282"},"PeriodicalIF":3.3,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39267959","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

Insights in primary central nervous system lymphoma: a role for glymphatics? 原发性中枢神经系统淋巴瘤:淋巴细胞的作用?

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-10-01 Epub Date: 2021-09-17 DOI: 10.1007/s10014-021-00414-1

Ashwin Kumaria

引用次数: 1

Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report. EWSR1-BEND2融合脊髓星形母细胞瘤经甲基化分类为HGNET-MN1 1例

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-10-01 Epub Date: 2021-07-27 DOI: 10.1007/s10014-021-00412-3

Takeyoshi Tsutsui, Yoshiki Arakawa, Yasuhide Makino, Hiroharu Kataoka, Yohei Mineharu, Kentaro Naito, Sachiko Minamiguchi, Takanori Hirose, Sumihito Nobusawa, Yoshiko Nakano, Koichi Ichimura, Hironori Haga, Susumu Miyamoto

{"title":"Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.","authors":"Takeyoshi Tsutsui, Yoshiki Arakawa, Yasuhide Makino, Hiroharu Kataoka, Yohei Mineharu, Kentaro Naito, Sachiko Minamiguchi, Takanori Hirose, Sumihito Nobusawa, Yoshiko Nakano, Koichi Ichimura, Hironori Haga, Susumu Miyamoto","doi":"10.1007/s10014-021-00412-3","DOIUrl":"https://doi.org/10.1007/s10014-021-00412-3","url":null,"abstract":"The most recurrent fusion of central nervous system high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) is MN1 rearrangement. Here, we report the case of a 36-year-old man with spinal cord astroblastoma showing Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)-BEN domain-containing 2 (BEND2) fusion. The patient presented with back pain, gait disturbance and dysesthesia in the lower extremities and trunk. Magnetic resonance imaging showed an intramedullary tumor at the T3-5 level, displaying homogeneous gadolinium enhancement. Partial tumor removal was performed with laminectomy. Histological examinations demonstrated solid growth of epithelioid tumor cells showing high cellularity, a pseudopapillary structure, intervening hyalinized fibrous stroma, and some mitoses. Astroblastoma was diagnosed, classified as HGNET-MN1 by the German Cancer Research Center methylation classifier. MN1 alteration was not detected by fluorescence in situ hybridization (FISH), but EWSR1-BEND2 fusion was detected by FISH and RNA sequencing. Previously, a child with EWSR1-BEND2 fusion-positive spinal astroblastoma classified as HGNET-MN1 was reported. In conjunction with that, the present case provides evidence that EWSR1-BEND2 fusion is identified in the entity of HGNET-MN1. Taken together, the BEND2 alteration rather than MN1 may determine the biology of a subset of the central nervous system HGNET-MN1 subclass.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 4","pages":"283-289"},"PeriodicalIF":3.3,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10014-021-00412-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39225522","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: 12

Association between IDH mutational status and tumor-associated epilepsy or venous thromboembolism in patients with grade II and III astrocytoma. II级和III级星形细胞瘤患者IDH突变状态与肿瘤相关癫痫或静脉血栓栓塞的关系

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-07-01 Epub Date: 2021-07-16 DOI: 10.1007/s10014-021-00406-1

Yoshinari Osada, Ryuta Saito, Satoshi Miyata, Takuhiro Shoji, Ichiyo Shibahara, Masayuki Kanamori, Yukihiko Sonoda, Toshihiro Kumabe, Mika Watanabe, Teiji Tominaga

{"title":"Association between IDH mutational status and tumor-associated epilepsy or venous thromboembolism in patients with grade II and III astrocytoma.","authors":"Yoshinari Osada, Ryuta Saito, Satoshi Miyata, Takuhiro Shoji, Ichiyo Shibahara, Masayuki Kanamori, Yukihiko Sonoda, Toshihiro Kumabe, Mika Watanabe, Teiji Tominaga","doi":"10.1007/s10014-021-00406-1","DOIUrl":"https://doi.org/10.1007/s10014-021-00406-1","url":null,"abstract":"In previous studies, isocitrate dehydrogenase (IDH) mutations were associated with tumor-associated epilepsy (TAE) and venous thromboembolism (VTE). We examined the relationship between IDH mutations in grade II/III astrocytomas and TAE/VTE according to the 2016 World Health Organization classification. The clinical data of patients with newly diagnosed grade II/III gliomas who were treated at Tohoku University Hospital from January 2010 to December 2018 were reviewed. Associations between TAE or VTE and the clinical/biological characteristics, histology, and IDH1/2 mutational status in patients with grade II/III gliomas were evaluated. Of the initial 137 patients (290 hospitalizations), 117 patients (203 hospitalizations) were included in the TAE group and 124 patients (213 hospitalizations) were included in the VTE group. Seventy-eight patients (66.7%) in the TAE group were diagnosed with astrocytoma and 38/78 (48.3%) presented with TAE. According to the multivariable analysis, the IDH mutational status and male sex were associated independently with an increased risk of TAE (p < 0.05). Eighty-five patients (68.5%) in the VTE group were diagnosed with astrocytoma. VTE was observed in 16/161 (9.9%) hospitalizations. According to the multivariable analysis, age, diffuse astrocytoma histology, and resection were associated independently with an increased risk of VTE. The decision tree analysis showed that TAE was more frequent in younger patients while VTE was more frequent in older patients. This study demonstrated that the IDH mutational status was associated with TAE but not with VTE. Therefore, a future large-scale study is needed to provide sufficient evidence. TAE was more common in young patients, while VTE was more common in the elderly.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 3","pages":"218-227"},"PeriodicalIF":3.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10014-021-00406-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39193097","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

Droplet digital PCR assay for detecting TERT promoter mutations in patients with glioma. 微滴数字PCR检测胶质瘤患者TERT启动子突变。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-07-01 Epub Date: 2021-06-14 DOI: 10.1007/s10014-021-00403-4

Jun-Ichi Adachi, Mitsuaki Shirahata, Tomonari Suzuki, Kazuhiko Mishima, Eita Uchida, Atsushi Sasaki, Ryo Nishikawa

{"title":"Droplet digital PCR assay for detecting TERT promoter mutations in patients with glioma.","authors":"Jun-Ichi Adachi, Mitsuaki Shirahata, Tomonari Suzuki, Kazuhiko Mishima, Eita Uchida, Atsushi Sasaki, Ryo Nishikawa","doi":"10.1007/s10014-021-00403-4","DOIUrl":"https://doi.org/10.1007/s10014-021-00403-4","url":null,"abstract":"Two hot spot mutations (C228T, C250T) in the telomerase reverse transcriptase (TERT) gene are frequently identified in glioblastoma and oligodendroglioma. TERT mutations predicts an aggressive clinical course in isocitrate dehydrogenase (IDH) wild-type astrocytic tumors. Therefore, it is important to accurately detect TERT promoter mutations in glioma. Sanger DNA sequencing is the currently standard method for analyzing TERT mutations. However, PCR amplification in the first step of the sequencing has proven technically difficult because of the high GC content around the TERT mutation. In this report, we described a novel droplet digital PCR (ddPCR) assay to evaluate TERT hot spot mutations in fresh frozen and formalin-fixed paraffin-embedded (FFPE) specimens of glioma and verified the difference in results from the Sanger DNA sequencing results. We obtained the mutant allele fraction for TERT mutations of in a single ddPCR run in all cases, including the micro-dissected FFPE sections. On the contrary, up to twice the DNA sequences were required from fresh frozen tissue to obtain the results, consistent with ddPCR assay. When FFPE specimens were used, more time was required to evaluate TERT mutations through DNA sequencing. DdPCR is an effective and sensitive assay compared to the conventional standard Sanger DNA sequencing.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 3","pages":"201-209"},"PeriodicalIF":3.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10014-021-00403-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39237496","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: 7

Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature. 小脑脂质神经细胞瘤伴脊柱播散的代谢、免疫组织化学和基因分析:一例报告和文献回顾。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-07-01 Epub Date: 2021-06-17 DOI: 10.1007/s10014-021-00405-2

Seiichiro Hirono, Yue Gao, Tomoo Matsutani, Jun-Ichiro Ikeda, Hideaki Yokoo, Yasuo Iwadate

{"title":"Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature.","authors":"Seiichiro Hirono, Yue Gao, Tomoo Matsutani, Jun-Ichiro Ikeda, Hideaki Yokoo, Yasuo Iwadate","doi":"10.1007/s10014-021-00405-2","DOIUrl":"https://doi.org/10.1007/s10014-021-00405-2","url":null,"abstract":"Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. The high uptake of 11 C-methionine in positron emission tomography (Met-PET) supported the preoperative cLNC diagnosis. Subtotal removal of the tumor around the obex and inferior vermis was performed. Histologically, the tumor was composed of small, uniform cells with round nuclei in a sheet-like fashion. Tumor cells were diffusely reactive for the neuronal markers synaptophysin and neurofilament. Vacuolate cells with a displacement of nuclei suggested the accumulation of lipid, which was further supported by immunohistochemical staining of S-100. These findings confirmed the diagnosis of cLNC. Next-generation sequencing of tumoral DNA detected a splice site mutation in the ATRX gene. Further reports of cLNC cases with detailed expression and genetic profiles are essential for precise diagnosis and clarifying the oncogenic pathway in cLNC.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 3","pages":"257-262"},"PeriodicalIF":3.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10014-021-00405-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39240138","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

Anti-angiogenic and macrophage-based therapeutic strategies for glioma immunotherapy. 抗血管生成和巨噬细胞为基础的神经胶质瘤免疫治疗策略。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-07-01 Epub Date: 2021-05-11 DOI: 10.1007/s10014-021-00402-5

Eiichi Ishikawa, Tsubasa Miyazaki, Shingo Takano, Hiroyoshi Akutsu

引用次数: 8

A case of central nervous system lesion pathologically characterized by angiocentric, T-cell-rich lymphoid cell infiltrates: a case report and literature review. 以血管中心性、富含t细胞的淋巴细胞浸润为病理特征的中枢神经系统病变1例报告并文献复习。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2021-07-01 Epub Date: 2021-03-30 DOI: 10.1007/s10014-021-00398-y

Ryotaro Imai, Hanako Tsujikawa, Mariko Fukumura, Atsushi Sasaki, Noboru Tsuda, Kaori Kameyama, Kazunari Yoshida, Hikaru Sasaki

{"title":"A case of central nervous system lesion pathologically characterized by angiocentric, T-cell-rich lymphoid cell infiltrates: a case report and literature review.","authors":"Ryotaro Imai, Hanako Tsujikawa, Mariko Fukumura, Atsushi Sasaki, Noboru Tsuda, Kaori Kameyama, Kazunari Yoshida, Hikaru Sasaki","doi":"10.1007/s10014-021-00398-y","DOIUrl":"https://doi.org/10.1007/s10014-021-00398-y","url":null,"abstract":"Lymphomatoid granulomatosis (LYG) is a rare lymphoproliferative disease with angiocentric and angiodestructive infiltrates, and by definition, Epstein-Barr virus (EBV)-associated B-cell malignancy. It most frequently involves the lung, and in some cases, the lesions are confined to the central nervous system (isolated CNS-LYG). However, it remains a controversial disease in terms of pathophysiology, especially in those confined to the CNS. We report the case of a 37-year-old man with CNS lesion pathologically characterized by angiocentric, T-cell-rich lymphoid cell infiltrates that resembled CNS-LYG. The lesion was clinically aggressive with subacute onset and irregular ring-like enhancement on MRI. The resected specimen showed no cytological atypia, EBV-infected cells, or monoclonality for IgH and TCR gene rearrangements. Considering the possibility of latent malignancy, the patient was successfully treated with corticosteroid and chemoradiotherapy with high-dose methotrexate. The present case and the literature suggest that EBV-negative CNS lesions with angiocentric lymphoid infiltrates are probably heterogeneous in their pathogenesis, including those that could fit into the so-called CNS-LYG and those with T-cell predominance. The accumulation of similar cases is warranted for the classification and appropriate treatment of these lesions.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"38 3","pages":"263-270"},"PeriodicalIF":3.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10014-021-00398-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25530180","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