{"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":"<p><p>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.</p>","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}
{"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":"<p><p>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.</p>","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}
Brain Tumor PathologyPub Date : 2022-07-01Epub Date: 2022-01-31DOI: 10.1007/s10014-021-00424-z
Hideyuki Arita, Koichi Ichimura
{"title":"Prognostic significance of TERT promoter mutations in adult-type diffuse gliomas.","authors":"Hideyuki Arita, Koichi Ichimura","doi":"10.1007/s10014-021-00424-z","DOIUrl":"https://doi.org/10.1007/s10014-021-00424-z","url":null,"abstract":"<p><p>TERT promoter mutations are one of the most common genetic alterations in adult-type diffuse gliomas and show specific patterns compared with other genetic alterations according to glioma subtypes. This mutation has variable impacts on patient outcomes in association with other genetic alterations, including IDH1/2 mutations or histological types. The purpose of this paper is to review the current knowledge on the values of TERT promoter mutations in the diagnosis and prognostication of adult-type diffuse gliomas. We also aimed to discuss the interaction between the prognostic impacts of TERT promoter mutations and other molecular alterations. Although its impact on prognosis is somewhat complicated and enigmatic, the mutational status of the TERT promoter provides highly useful information for predicting patients' outcomes in the conventional classification of gliomas defined by IDH1/2 and 1p/19q status.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 3","pages":"121-129"},"PeriodicalIF":3.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39873593","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}
Brain Tumor PathologyPub Date : 2022-07-01Epub Date: 2022-01-06DOI: 10.1007/s10014-021-00422-1
Serena Ammendola, Valeria Barresi
{"title":"Timing of H3K27me3 loss in secondary anaplastic meningiomas.","authors":"Serena Ammendola, Valeria Barresi","doi":"10.1007/s10014-021-00422-1","DOIUrl":"https://doi.org/10.1007/s10014-021-00422-1","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 3","pages":"179-181"},"PeriodicalIF":3.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39789179","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}
A. Maier, C. B. Brøchner, C. Mirian, J. Haslund-Vinding, J. Bartek, T. Ekström, F. Poulsen, D. Scheie, T. Mathiesen
{"title":"Loss of H3K27me3 in WHO grade 3 meningioma","authors":"A. Maier, C. B. Brøchner, C. Mirian, J. Haslund-Vinding, J. Bartek, T. Ekström, F. Poulsen, D. Scheie, T. Mathiesen","doi":"10.1007/s10014-022-00436-3","DOIUrl":"https://doi.org/10.1007/s10014-022-00436-3","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 1","pages":"200 - 209"},"PeriodicalIF":3.3,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49449969","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}
Kaiyun Yang, Justin Z. Wang, Nisha Kanwar, A. Villani, O. Ajani, A. Fleming, V. Patil, Y. Mamatjan, Qingxia Wei, D. Malkin, A. Shlien, G. Zadeh, J. Provias
{"title":"A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL","authors":"Kaiyun Yang, Justin Z. Wang, Nisha Kanwar, A. Villani, O. Ajani, A. Fleming, V. Patil, Y. Mamatjan, Qingxia Wei, D. Malkin, A. Shlien, G. Zadeh, J. Provias","doi":"10.1007/s10014-022-00437-2","DOIUrl":"https://doi.org/10.1007/s10014-022-00437-2","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 1","pages":"225 - 231"},"PeriodicalIF":3.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41693393","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}
Toru Umehara, H. Arita, F. Miya, Takamune Achiha, T. Shofuda, E. Yoshioka, D. Kanematsu, Tomoyoshi Nakagawa, M. Kinoshita, Naoki Kagawa, Y. Fujimoto, N. Hashimoto, H. Kiyokawa, Eiichi Morii, T. Tsunoda, Y. Kanemura, H. Kishima
{"title":"Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report","authors":"Toru Umehara, H. Arita, F. Miya, Takamune Achiha, T. Shofuda, E. Yoshioka, D. Kanematsu, Tomoyoshi Nakagawa, M. Kinoshita, Naoki Kagawa, Y. Fujimoto, N. Hashimoto, H. Kiyokawa, Eiichi Morii, T. Tsunoda, Y. Kanemura, H. Kishima","doi":"10.1007/s10014-022-00438-1","DOIUrl":"https://doi.org/10.1007/s10014-022-00438-1","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"1 2","pages":"218 - 224"},"PeriodicalIF":3.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41244108","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}
Ayako Yamazaki, Y. Arai, K. Fukuoka, Y. Nakano, N. Hama, S. Nakata, K. Makino, J. Kuroda, N. Shinojima, A. Mukasa, Yoshiki Mikami, K. Ichimura, T. Shibata, H. Yokoo, S. Nobusawa
{"title":"Diffusely infiltrating glioma with CREBBP–BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report","authors":"Ayako Yamazaki, Y. Arai, K. Fukuoka, Y. Nakano, N. Hama, S. Nakata, K. Makino, J. Kuroda, N. Shinojima, A. Mukasa, Yoshiki Mikami, K. Ichimura, T. Shibata, H. Yokoo, S. Nobusawa","doi":"10.1007/s10014-022-00435-4","DOIUrl":"https://doi.org/10.1007/s10014-022-00435-4","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 1","pages":"171 - 178"},"PeriodicalIF":3.3,"publicationDate":"2022-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47916975","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}
Yukitomo Ishi, S. Yamaguchi, Michinari Okamoto, R. Sawaya, S. Endo, Hiroaki Motegi, S. Terasaka, Zen-ichi Tanei, K. Hatanaka, Shinya Tanaka, M. Fujimura
{"title":"Clinical and radiological findings of glioblastomas harboring a BRAF V600E mutation","authors":"Yukitomo Ishi, S. Yamaguchi, Michinari Okamoto, R. Sawaya, S. Endo, Hiroaki Motegi, S. Terasaka, Zen-ichi Tanei, K. Hatanaka, Shinya Tanaka, M. Fujimura","doi":"10.1007/s10014-022-00432-7","DOIUrl":"https://doi.org/10.1007/s10014-022-00432-7","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 1","pages":"162 - 170"},"PeriodicalIF":3.3,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46306260","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}
Brain Tumor PathologyPub Date : 2022-04-01Epub Date: 2022-01-11DOI: 10.1007/s10014-021-00423-0
Theo F J Kraus, Christoph Schwartz, Lukas Machegger, Barbara Zellinger, Dorothee Hölzl, Hans U Schlicker, Johannes Pöppe, Barbara Ladisich, Mathias Spendel, Michael Kral, Karl Sotlar
{"title":"A patient with two gliomas with independent oligodendroglioma and glioblastoma biology proved by DNA-methylation profiling: a case report and review of the literature.","authors":"Theo F J Kraus, Christoph Schwartz, Lukas Machegger, Barbara Zellinger, Dorothee Hölzl, Hans U Schlicker, Johannes Pöppe, Barbara Ladisich, Mathias Spendel, Michael Kral, Karl Sotlar","doi":"10.1007/s10014-021-00423-0","DOIUrl":"https://doi.org/10.1007/s10014-021-00423-0","url":null,"abstract":"<p><p>Here, we report on a patient presenting with two histopathologically distinct gliomas. At the age of 42, the patient underwent initial resection of a right temporal oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade II followed by adjuvant radiochemotherapy with temozolomide. 15 months after initial diagnosis, the patient showed right hemispheric tumor progression and an additional new left frontal contrast enhancement in the subsequent imaging. A re-resection of the right-sided tumor and resection of the left frontal tumor were conducted. Neuropathological work-up showed recurrence of the right-sided oligodendroglioma with features of an anaplastic oligodendroglioma WHO Grade III, but a glioblastoma WHO grade IV for the left frontal lesion. In depth molecular profiling revealed two independent brain tumors with distinct molecular profiles of anaplastic oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade III and glioblastoma IDH wildtype WHO grade IV. This unique and rare case of a patient with two independent brain tumors revealed by in-depth molecular work-up and epigenomic profiling emphasizes the importance of integrated work-up of brain tumors including methylome profiling for advanced patient care.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"39 2","pages":"111-119"},"PeriodicalIF":3.3,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9090705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39689454","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}