{"title":"Astroblastoma with MN1::BEND2 in an elderly patient: A case report and review of the literature","authors":"Hirotaka Tsukamoto, Ryu Saito, Takahiro Shirakura, Takuma Nakashima, Ryo Yamamoto, Hirofumi Kazama, Mitsuto Hanihara, Hiromichi Suzuki, Sumihito Nobusawa, Hiroyuki Kinouchi","doi":"10.1007/s10014-024-00491-y","DOIUrl":"https://doi.org/10.1007/s10014-024-00491-y","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"2012 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194680","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":"Comprehensive genomic analysis reveals clonal origin and subtype-specific evolution in a case of sporadic multiple meningiomas","authors":"Maki Sakaguchi, Masafumi Horie, Yukinobu Ito, Shingo Tanaka, Keishi Mizuguchi, Hiroko Ikeda, Etsuko Kiyokawa, Mitsutoshi Nakada, Daichi Maeda","doi":"10.1007/s10014-024-00486-9","DOIUrl":"https://doi.org/10.1007/s10014-024-00486-9","url":null,"abstract":"<p>Meningioma is the most common primary intracranial tumor in adults, with up to 10% manifesting as multiple tumors. Data on the genomic and molecular changes in sporadic multiple meningiomas are scarce, leading to ongoing debates regarding their evolutionary processes. A comprehensive genetic analysis of a large number of lesions, including precursor lesions, is necessary to explore these two possible origins: clonal and independent. In the present study, we performed whole-exome sequencing and analyzed somatic single-nucleotide variants (SNVs), insertions/deletions (INDELs), and copy number alterations (CNAs) in a patient with sporadic multiple meningiomas. These meningiomas included two mass-forming lesions of different histological subtypes (transitional and chordoid) and two small meningothelial nests. Genetic analysis revealed CNAs on chromosomes 22q and Y as common abnormalities in the two largest tumors. Furthermore, we identified SNV/INDELs unique to each focus, with <i>NF2</i> mutation prevalent in the transitional meningioma and <i>CREBBP</i> mutation in the chordoid meningioma. Loss of chromosome 22 was detected in two small meningothelial nests. Overall, we elucidated the clonal origin and subtype-specific evolution of multiple meningiomas in this case. CNAs may serve as the initial driving event in meningioma development.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"55 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779949","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":"Status of alternative angiogenic pathways in glioblastoma resected under and after bevacizumab treatment","authors":"Taketo Ezaki, Toshihide Tanaka, Ryota Tamura, Kentaro Ohara, Yohei Yamamoto, Jun Takei, Yukina Morimoto, Ryotaro Imai, Yuki Kuranai, Yasuharu Akasaki, Masahiro Toda, Yuichi Murayama, Keisuke Miyake, Hikaru Sasaki","doi":"10.1007/s10014-024-00481-0","DOIUrl":"https://doi.org/10.1007/s10014-024-00481-0","url":null,"abstract":"<p>Glioblastoma multiforme (GBM) acquires resistance to bevacizumab (Bev) treatment. Bev affects angiogenic factors other than vascular endothelial growth factor (VEGF), which are poorly understood. We investigated changes in angiogenic factors under and after Bev therapy, including angiopoietin-1 (ANGPT1), angiopoietin-2 (ANGPT2), placental growth factor (PLGF), fibroblast growth factor 2, and ephrin A2 (EphA2). Fifty-four GBM tissues, including 28 specimens from 14 cases as paired specimens from the same patient obtained in three settings: initial tumor resection (naïve Bev), tumors resected following Bev therapy (effective Bev), and recurrent tumors after Bev therapy (refractory Bev). Immunohistochemistry assessed their expressions in tumor vessels and its correlation with recurrent MRI patterns. PLGF expression was higher in the effective Bev group than in the naïve Bev group (<i>p</i> = 0.024) and remained high in the refractory Bev group. ANGPT2 and EphA2 expressions were higher in the refractory Bev group than in the naïve Bev group (<i>p</i> = 0.047 and 0.028, respectively). PLGF expression was higher in the refractory Bev group compared with the naïve Bev group for paired specimens (<i>p</i> = 0.036). PLGF was more abundant in T2 diffuse/circumscribe patterns (<i>p</i> = 0.046). This is the first study to evaluate angiogenic factors other than VEGF during effective and refractory Bev therapy in patient-derived specimens.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"90 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576873","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}
Manabu Natsumeda, Satoshi Shibuma, Haruhiko Takahashi, Jotaro On, Yoshihiro Mouri, Kaoru Tomikawa, Hidemoto Fujiwara, Jun Watanabe, Yoshihiro Tsukamoto, Masayasu Okada, Rui Takeda, Hiroshi Shimizu, Jun Takizawa, Akiyoshi Kakita, Makoto Oishi
{"title":"Recent advances in liquid biopsy of central nervous system lymphomas: case presentations and review of the literature","authors":"Manabu Natsumeda, Satoshi Shibuma, Haruhiko Takahashi, Jotaro On, Yoshihiro Mouri, Kaoru Tomikawa, Hidemoto Fujiwara, Jun Watanabe, Yoshihiro Tsukamoto, Masayasu Okada, Rui Takeda, Hiroshi Shimizu, Jun Takizawa, Akiyoshi Kakita, Makoto Oishi","doi":"10.1007/s10014-024-00483-y","DOIUrl":"https://doi.org/10.1007/s10014-024-00483-y","url":null,"abstract":"<p>Surgical biopsy is the gold standard for diagnosing central nervous system (CNS) lymphomas. However, reliable liquid biopsy methods for diagnosing CNS lymphomas have quickly developed and have been implicated in clinical decision-making. In the current report, we introduce two patients for whom liquid biopsy was essential for diagnosing CNS lymphomas and discuss the rapidly growing applications of this technology.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"90 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576889","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":"Clinical and radiological features of intracranial ancient schwannomas: a single-institution, retrospective analysis","authors":"Takahiro Tsuchiya, Masako Ikemura, Satoru Miyawaki, Yu Teranishi, Kenta Ohara, Tetsuo Ushiku, Nobuhito Saito","doi":"10.1007/s10014-024-00482-z","DOIUrl":"https://doi.org/10.1007/s10014-024-00482-z","url":null,"abstract":"<p>Ancient schwannoma (AS) is a subtype of schwannoma characterized by slow progression despite degenerative changes in pathology. Although it is considered a benign tumor, most previous reports have focused on extracranial AS; therefore, the clinical characteristics of intracranial AS is not clear. We included 174 patients who underwent surgery for sporadic intracranial schwannoma, and 13 patients (7.5%) were diagnosed with AS. Cysts were significantly more common in patients with AS than conventional schwannomas (92.3% vs. 44.7%, p < 0.001), as was bleeding (38.5% vs. 6.9%, p = 0.003) and calcification (15.4% vs. 1.3%, p = 0.029). The maximum tumor diameter was also larger in patients with AS (35 mm vs. 29 mm, p = 0.017). The median duration from symptom onset to surgery (7.0 vs. 12.5 months, p = 0.740) did not significantly differ between groups, nor did the probability of postoperative recurrence (p = 0.949). Intracranial AS was strongly associated with cyst formation and exhibited a benign clinical course with a lower rate of recurrence and need for salvage treatment. Extracranial AS is reportedly characterized by a slow progression through a long-term clinical course, whereas intracranial AS did not progress slowly in our study and exhibited different clinical features to those reported for extracranial AS.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"52 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576890","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":"Preface for Brain Tumor Pathology vol.41 issue 2 : (Special issue for the 41st Annual Meeting of the Japan Society of Brain Tumor Pathology).","authors":"Motoo Nagane","doi":"10.1007/s10014-024-00479-8","DOIUrl":"10.1007/s10014-024-00479-8","url":null,"abstract":"","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"41-42"},"PeriodicalIF":3.3,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140334737","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":"Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas.","authors":"Takuma Nakashima, Ryo Yamamoto, Makoto Ohno, Hirokazu Sugino, Masamichi Takahashi, Yusuke Funakoshi, Shohei Nambu, Atsuhito Uneda, Shunsuke Yanagisawa, Takeo Uzuka, Yoshiki Arakawa, Ryosuke Hanaya, Joji Ishida, Koji Yoshimoto, Ryuta Saito, Yoshitaka Narita, Hiromichi Suzuki","doi":"10.1007/s10014-023-00476-3","DOIUrl":"10.1007/s10014-023-00476-3","url":null,"abstract":"<p><p>A prompt and reliable molecular diagnosis for brain tumors has become crucial in precision medicine. While Comprehensive Genomic Profiling (CGP) has become feasible, there remains room for enhancement in brain tumor diagnosis due to the partial lack of essential genes and limitations in broad copy number analysis. In addition, the long turnaround time of commercially available CGPs poses an additional obstacle to the timely implementation of results in clinics. To address these challenges, we developed a CGP encompassing 113 genes, genome-wide copy number changes, and MGMT promoter methylation. Our CGP incorporates not only diagnostic genes but also supplementary genes valuable for research. Our CGP enables us to simultaneous identification of mutations, gene fusions, focal and broad copy number alterations, and MGMT promoter methylation status, with results delivered within a minimum of 4 days. Validation of our CGP, through comparisons with whole-genome sequencing, RNA sequencing, and pyrosequencing, has certified its accuracy and reliability. We applied our CGP for 23 consecutive cases of intracranial mass lesions, which demonstrated its efficacy in aiding diagnosis and prognostication. Our CGP offers a comprehensive and rapid molecular profiling for gliomas, which could potentially apply to clinical practices and research primarily in the field of brain tumors.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"50-60"},"PeriodicalIF":3.3,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139706093","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":"Rise of oligodendroglioma hypermutator phenotype from a subclone harboring TP53 mutation after TMZ treatment.","authors":"Fumi Higuchi, Takeo Uzuka, Hadzki Matsuda, Takuma Sumi, Kayoko Iwata, Takashi Namatame, Masahiro Shin, Hiroyoshi Akutsu, Keisuke Ueki","doi":"10.1007/s10014-024-00477-w","DOIUrl":"10.1007/s10014-024-00477-w","url":null,"abstract":"<p><p>Oligodendrogliomas characterized and defined by 1p/19q co-deletion are slowly growing tumors showing better prognosis than astrocytomas. TP53 mutation is rare in oligodendrogliomas while the vast majority of astrocytomas harbor the mutation, making TP53 mutation mutually exclusive with 1p/19q codeletion in lower grade gliomas virtually. We report a case of 51-year-old woman with a left fronto-temporal oligodendroglioma that contained a small portion with a TP53 mutation, R248Q, at the initial surgery. On a first, slow-growing recurrence 29 months after radiation and nitrosourea-based chemotherapy, the patient underwent TMZ chemotherapy. The recurrent tumor responded well to TMZ but developed a rapid progression after 6 cycles as a malignant hypermutator tumor with a MSH6 mutation. Most of the recurrent tumor lacked typical oligodendroglioma morphology that was observed in the primary tumor, while it retained the IDH1 mutation and 1p/19q co-deletion. The identical TP53 mutation observed in the small portion of the primary tumor was universal in the recurrence. This case embodied the theoretically understandable clonal expansion of the TP53 mutation with additional mismatch repair gene dysfunction leading to hypermutator phenotype. It thus indicated that TP53 mutation in oligodendroglioma, although not common, may play a critical role in the development of hypermutator after TMZ treatment.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"80-84"},"PeriodicalIF":3.3,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139641626","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 : 2024-04-01Epub Date: 2024-04-02DOI: 10.1007/s10014-024-00480-1
Hikaru Sasaki, Yohei Kitamura, Masahiro Toda, Yuichi Hirose, Kazunari Yoshida
{"title":"Oligodendroglioma, IDH-mutant and 1p/19q-codeleted-prognostic factors, standard of care and chemotherapy, and future perspectives with neoadjuvant strategy.","authors":"Hikaru Sasaki, Yohei Kitamura, Masahiro Toda, Yuichi Hirose, Kazunari Yoshida","doi":"10.1007/s10014-024-00480-1","DOIUrl":"10.1007/s10014-024-00480-1","url":null,"abstract":"<p><p>Oligodendroglioma, IDH-mutant and 1p/19q-codeleted is known for their relative chemosensitivity and indolent clinical course among diffuse gliomas of adult type. Based on the data from phase 3 clinical trials, the standard of post-surgical care for those tumors is considered to be initial chemoradiotherapy regardless of histopathological grade, particularly with PCV. However, partly due to its renewed definition in late years, prognostic factors in patients with those tumors are not well established. Moreover, the survival rate declines over 15 years, with only a 37% OS rate at 20 years for grade 3 tumors, even with the current standard of care. Given that most of this disease occurs in young or middle-aged adults, further improvements in treatment and management are necessary. Here, we discuss prognostic factors, standard of care and chemotherapy, and future perspectives with neoadjuvant strategy in those tumors.</p>","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"43-49"},"PeriodicalIF":3.3,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140334736","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}