Brain Tumor Pathology最新文献_第4页

A rare case of primary central nervous system histiocytic sarcoma harboring a novel ARHGAP45::BRAF fusion: a case report and literature review 一例罕见的原发性中枢神经系统组织细胞肉瘤，携带新型 ARHGAP45::BRAF 融合基因：病例报告和文献综述

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-12-15 DOI: 10.1007/s10014-023-00471-8

Luyi Zhang, Gang Zhang, Han Zheng, Bin Jiang, Yongzhi Ju, Qianqian Duan, Lu An, Hangyu Shi

{"title":"A rare case of primary central nervous system histiocytic sarcoma harboring a novel ARHGAP45::BRAF fusion: a case report and literature review","authors":"Luyi Zhang, Gang Zhang, Han Zheng, Bin Jiang, Yongzhi Ju, Qianqian Duan, Lu An, Hangyu Shi","doi":"10.1007/s10014-023-00471-8","DOIUrl":"https://doi.org/10.1007/s10014-023-00471-8","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Introduction</h3>Patients with histiocytic sarcoma occurring in the central nervous system (CNS) are rare and have a very poor prognosis. The increased use of molecular diagnostic approaches in solid tumors has brought more opportunities for the diagnosis and treatment of central nervous system histiocytic sarcoma (CNSHS).<h3 data-test=\"abstract-sub-heading\">Case description</h3>A 9-year-old girl was admitted to the hospital with pain in her head and neck, as well as vomiting. Imaging scans showed a prominent abnormality in the anterior falciform region, and histopathology revealed the presence of CD68 (+) and CD163 (+) cells, leading to a preliminary diagnosis of primary intracerebral CNSHS. Molecular profiling tests identified a new variant of ARHGAP45::BRAF fusion in this case, which has not been reported in any other tumor. The patient underwent surgical removal of the tumor and will require long-term monitoring.<h3 data-test=\"abstract-sub-heading\">Conclusion</h3>The presence of the BRAF point mutation, predominantly BRAF p.V600E, has been documented in prior literature of CNSHS. This is the first case of pediatric histiocytic sarcoma in the anterior falciform region who has a unique ARHGAP45::BRAF fusion. The findings of our study indicate that a broader range of molecular assays should be employed in the diagnosis of CNSHS and opens up new possibilities for the treatment of the patient.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"28 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138692827","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

FISH analysis reveals CDKN2A and IFNA14 co-deletion is heterogeneous and is a prominent feature of glioblastoma FISH 分析显示 CDKN2A 和 IFNA14 共同缺失具有异质性，是胶质母细胞瘤的一个显著特征

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-12-14 DOI: 10.1007/s10014-023-00473-6

{"title":"FISH analysis reveals CDKN2A and IFNA14 co-deletion is heterogeneous and is a prominent feature of glioblastoma","authors":"","doi":"10.1007/s10014-023-00473-6","DOIUrl":"https://doi.org/10.1007/s10014-023-00473-6","url":null,"abstract":"<h3>Abstract</h3> Deletion of CDKN2A occurs in 50% of glioblastomas (GBM), and IFNA locus deletion in 25%. These genes reside closely on chromosome 9. We investigated whether CDKN2A and IFNA were co-deleted within the same heterogeneous tumour and their prognostic implications. We assessed CDKN2A and IFNA14 deletions in 45 glioma samples using an in-house three-colour FISH probe. We examined the correlation between p16INK4a protein expression (via IHC) and CDKN2A deletion along with the impact of these genomic events on patient survival. FISH analyses demonstrated that grades II and III had either wildtype (wt) or amplified CDKN2A/IFNA14, whilst 44% of GBMs harboured homozygous deletions of both genes. Cores with CDKN2A homozygous deletion (n = 11) were negative for p16INK4a. Twenty p16INK4a positive samples lacked CDKN2A deletion with some of cells showing negative p16INK4a. There was heterogeneity in IFNA14/CDKN2A ploidy within each GBM. Survival analyses of primary GBMs suggested a positive association between increased p16INK4a and longer survival; this persisted when considering CDKN2A/IFNA14 status. Furthermore, wt (intact) CDKN2A/IFNA14 were found to be associated with longer survival in recurrent GBMs. Our data suggest that co-deletion of CDKN2A/IFNA14 in GBM negatively correlates with survival and CDKN2A-wt status correlated with longer survival, and with second surgery, itself a marker for improved patient outcomes.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"16 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138679981","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

Primary papillary epithelial tumor of the sella: a case report of an emerging tumor type 蝶鞍原发性乳头状上皮肿瘤：一种新兴肿瘤类型的病例报告

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-12-13 DOI: 10.1007/s10014-023-00472-7

S. Rima, Shilpa Rao, Pulak Nigam, Rajneesh Kacchara

引用次数: 0

Spontaneous malignant transformation of trigeminal schwannoma: consideration of responsible gene alterations for tumorigenesis-a case report. 三叉神经神经鞘瘤的自发恶性转化：考虑致瘤基因的改变一例报告。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-10-01 Epub Date: 2023-07-29 DOI: 10.1007/s10014-023-00466-5

Natsuki Ogasawara, Shinji Yamashita, Koji Yamasaki, Tomoki Kawano, Tomohiro Kawano, Junichiro Muta, Fumitaka Matsumoto, Takashi Watanabe, Hajime Ohta, Kiyotaka Yokogami, Tsuyoshi Fukushima, Yuichiro Sato, Hideo Takeshima

{"title":"Spontaneous malignant transformation of trigeminal schwannoma: consideration of responsible gene alterations for tumorigenesis-a case report.","authors":"Natsuki Ogasawara, Shinji Yamashita, Koji Yamasaki, Tomoki Kawano, Tomohiro Kawano, Junichiro Muta, Fumitaka Matsumoto, Takashi Watanabe, Hajime Ohta, Kiyotaka Yokogami, Tsuyoshi Fukushima, Yuichiro Sato, Hideo Takeshima","doi":"10.1007/s10014-023-00466-5","DOIUrl":"10.1007/s10014-023-00466-5","url":null,"abstract":"Malignant peripheral nerve sheath tumors (MPNSTs) arising from the trigeminal nerves are extremely rare (only 45 cases, including the present case, have been published) and have been reported to develop de novo from the peripheral nerve sheath and are not transformed from a schwannoma or neurofibroma. Here, we report a case of MPNSTs of the trigeminal nerve caused by the malignant transformation of a trigeminal schwannoma, with a particular focus on genetic considerations. After undergoing a near-total resection of a histologically typical benign schwannoma, the patient presented with regrowth of the tumor 10 years after the primary excision. Histopathologic and immunochemical examinations confirmed the recurrent tumor to be an MPNST. Comprehensive genomic analyses (FoundationOne panel-based gene assay) showed that only the recurrent MPNST sample, not the initial diagnosis of schwannoma, harbored genetic mutations, including NF1-p.R2637* and TP53-p.Y234H, candidate gene mutations associated with malignant transformation. Moreover, the results of reverse transcription polymerase chain reaction showed that the fusion of SH3PXD2A and HTRA1, which has been reported as one of the responsible genetic aberrations of schwannoma, was detected in the recurrent tumor. Taken together, we could illustrate the accumulation process of gene abnormalities for developing MPNSTs from normal cells via schwannomas.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"222-229"},"PeriodicalIF":3.3,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9891974","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

Touch imprint cytology is useful for the intraoperative pathological diagnosis of PitNETs' surgical margins. 接触印迹细胞学检查有助于PitNETs手术边缘的术中病理诊断。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-10-01 Epub Date: 2023-10-06 DOI: 10.1007/s10014-023-00470-9

Noriaki Tanabe, Naoko Inoshita, Atsushi Ishida, Masataka Kato, Haruko Yoshimoto, Hideki Shiramizu, Hidetaka Suga, Toru Tateno, Kenichi Ohashi, Shozo Yamada

{"title":"Touch imprint cytology is useful for the intraoperative pathological diagnosis of PitNETs' surgical margins.","authors":"Noriaki Tanabe, Naoko Inoshita, Atsushi Ishida, Masataka Kato, Haruko Yoshimoto, Hideki Shiramizu, Hidetaka Suga, Toru Tateno, Kenichi Ohashi, Shozo Yamada","doi":"10.1007/s10014-023-00470-9","DOIUrl":"10.1007/s10014-023-00470-9","url":null,"abstract":"Touch imprint cytology (TIC) and frozen section (FS) procedures are essential for intraoperative pathological diagnosis (IPD). They are invaluable tools for therapeutic decision-making, helping surgeons avoid under or overtreatment of patients. Pituitary neuroendocrine tumors (PitNETs) are generally small, slow-growing tumors with low-grade malignancy located at the base of the skull where it is impossible to maintain a wide tumor margin. Therefore, transsphenoidal surgery (TSS) should be performed with necessary caution, and with sufficient and minimal resection. Thus, this study aimed to evaluate the diagnostic accuracy of TIC for the diagnosis of PitNET and determine its ability to accurately evaluate the surgical margin compared to the FS procedure. A total of 104 fresh specimens from 28 patients who underwent TSS for PitNETs were examined using TIC and FS. TIC specimens were categorized according to the cell imprinting pattern. All specimens with a large number of neuroendocrine cells diffusely attached to the glass surfaces had PitNET components. Contrarily, no rich or diffuse cell attachments were observed in any non-tumoral endocrine cells. In conclusion, recognizing a pattern of endocrine cell adherence to glass is highly effective in IPD to certify the existence of a PitNET component.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"215-221"},"PeriodicalIF":3.3,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41178087","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: 0

Integrated analysis of multiple methods reveals characteristics of the immune microenvironment in medulloblastoma. 多种方法的综合分析揭示了髓母细胞瘤免疫微环境的特征。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-10-01 Epub Date: 2023-08-09 DOI: 10.1007/s10014-023-00467-4

Kaiyu Fan, Yifan Wei, Yunwei Ou, Jian Gong

{"title":"Integrated analysis of multiple methods reveals characteristics of the immune microenvironment in medulloblastoma.","authors":"Kaiyu Fan, Yifan Wei, Yunwei Ou, Jian Gong","doi":"10.1007/s10014-023-00467-4","DOIUrl":"10.1007/s10014-023-00467-4","url":null,"abstract":"To explore the characteristics of the immune microenvironment (IME) of medulloblastoma (MB) by four methods: flow cytometry (FCM), immunohistochemical (IHC), bulk RNA expression and single cell RNA sequencing (scRNA-seq), we collected the intraoperative specimens of MB, ependymoma (EPN), high-grade glioma (HGG), and low-grade glioma (LGG) to make a cross-cancer comparison. The specimens were subjected to FCM and IHC respectively, and deconvolution from bulk RNA expression data and scRNA-seq analysis were performed in MB from the GEO database. FCM and IHC analysis found that the proportion of lymphocytes (LC) and T cells between MB and other brain tumors were significantly different. The deconvolution of bulk RNA expression data showed that only the proportion of cell types in MCPCOUNTER changed greatly. scRNA-seq found that the proportion of various immune cells in the IME of MB differed between different subtypes. Techniques such as FCM, IHC, bulk RNA expression, and scRNA-seq can sort out different immune cell subsets to a certain extent and quantify their proportions. The four methods have their own strengthens and limitations, but for highly heterogeneous tumor such as MB, integrated analysis of multiple methods is a better choice.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"191-203"},"PeriodicalIF":3.3,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9966881","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

Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype: case series of a new entity. 弥漫性儿童型高级别胶质瘤，H3野生型和IDH野生型：一个新实体的病例系列。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-10-01 Epub Date: 2023-08-10 DOI: 10.1007/s10014-023-00468-3

Katja Bender, Johannes Kahn, Eilís Perez, Felix Ehret, Siyer Roohani, David Capper, Simone Schmid, David Kaul

{"title":"Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype: case series of a new entity.","authors":"Katja Bender, Johannes Kahn, Eilís Perez, Felix Ehret, Siyer Roohani, David Capper, Simone Schmid, David Kaul","doi":"10.1007/s10014-023-00468-3","DOIUrl":"10.1007/s10014-023-00468-3","url":null,"abstract":"Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (pHGG) is a rare and aggressive brain tumor characterized by a specific DNA methylation profile. It was recently introduced in the 5th World Health Organization classification of central nervous system tumors of 2021. Clinical data on this tumor is scarce. This is a case series, which presents the first clinical experience with this entity. We compiled a retrospective case series on pHGG patients treated between 2015 and 2022 at our institution. Data collected include patients' clinical course, surgical procedure, histopathology, genome-wide DNA methylation analysis, imaging and adjuvant therapy. Eight pHGG were identified, ranging in age from 8 to 71 years. On MRI tumors presented with an unspecific intensity profile, T1w hypo- to isointense and T2w hyperintense, with inhomogeneous contrast enhancement, often with rim enhancement. Three patients died of the disease, with overall survival of 19, 28 and 30 months. Four patients were alive at the time of the last follow-up, 4, 5, 6 and 79 months after the initial surgery. One patient was lost to follow-up. Findings indicate that pHGG prevalence might be underestimated in the elderly population.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"204-214"},"PeriodicalIF":3.3,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9969830","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: 0

Intraventricular central neurocytoma molecularly defined as extraventricular neurocytoma: a case representing the discrepancy between clinicopathological and molecular classifications. 脑室内中枢神经细胞瘤分子定义为脑室外神经细胞瘤：一个代表临床病理和分子分类之间差异的病例。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-10-01 Epub Date: 2023-09-11 DOI: 10.1007/s10014-023-00469-2

Daisuke Sato, Hirokazu Takami, Shunsaku Takayanagi, Masako Ikemura, Reiko Matsuura, Shota Tanaka, Nobuhito Saito

{"title":"Intraventricular central neurocytoma molecularly defined as extraventricular neurocytoma: a case representing the discrepancy between clinicopathological and molecular classifications.","authors":"Daisuke Sato, Hirokazu Takami, Shunsaku Takayanagi, Masako Ikemura, Reiko Matsuura, Shota Tanaka, Nobuhito Saito","doi":"10.1007/s10014-023-00469-2","DOIUrl":"10.1007/s10014-023-00469-2","url":null,"abstract":"Central neurocytoma (CN) is classically defined by its intraventricular location, neuronal/neurocytic differentiation, and histological resemblance to oligodendroglioma. Extraventricular neurocytoma (EVN) shares similar histological features with CN, while it distributes any site without contact with the ventricular system. CN and EVN have distinct methylation landscapes, and EVN has a signature fusion gene, FGFR1-TACC1. These characteristics distinguish between CN and EVN. A 30-year-old female underwent craniotomy and resection of a left intraventricular tumor at our institution. The histopathology demonstrated the classical findings of CN. Adjuvant irradiation with 60 Gy followed. No recurrence has been recorded for 25 years postoperatively. RNA sequencing revealed FGFR1-TACC1 fusion and methylation profile was discrepant with CN but compatible with EVN. We experienced a case of anatomically and histologically proven CN in the lateral ventricle. However, the FGFR1-TACC1 fusion gene and methylation profiling suggested the molecular diagnosis of EVN. The representative case was an \"intraventricular\" neurocytoma displaying molecular features of an \"extraventricular\" neurocytoma. Clinicopathological and molecular definitions have collided in our case and raised questions about the current definition of CN and EVN.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":"230-234"},"PeriodicalIF":3.3,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10206488","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: 1

IDH wild-type lower-grade gliomas with glioblastoma molecular features: a systematic review and meta-analysis. IDH野生型低级别胶质瘤伴胶质母细胞瘤分子特征：一项系统综述和荟萃分析

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2023-07-01 Epub Date: 2023-05-22 DOI: 10.1007/s10014-023-00463-8

Satoshi Nakasu, Shoichi Deguchi, Yoko Nakasu

{"title":"IDH wild-type lower-grade gliomas with glioblastoma molecular features: a systematic review and meta-analysis.","authors":"Satoshi Nakasu, Shoichi Deguchi, Yoko Nakasu","doi":"10.1007/s10014-023-00463-8","DOIUrl":"10.1007/s10014-023-00463-8","url":null,"abstract":"The WHO 2021 classification defines IDH wild type (IDHw) histologically lower-grade glioma (hLGG) as molecular glioblastoma (mGBM) if TERT promoter mutation (pTERTm), EGFR amplification or chromosome seven gain and ten loss aberrations are indicated. We systematically reviewed articles of IDHw hLGGs studies (49 studies, N = 3748) and meta-analyzed mGBM prevalence and overall survival (OS) according to the PRISMA statement. mGBM rates in IDHw hLGG were significantly lower in Asian regions (43.7%, 95% confidence interval [CI: 35.8-52.0]) when compared to non-Asian regions (65.0%, [CI: 52.9-75.4]) (P = 0.005) and were significantly lower in fresh-frozen specimen when compared to formalin-fixed paraffin-embedded samples (P = 0.015). IDHw hLGGs without pTERTm rarely expressed other molecular markers in Asian studies when compared to non-Asian studies. Patients with mGBM had significantly longer OS times when compared to histological GBM (hGBM) (pooled hazard ratio (pHR) 0.824, [CI: 0.694-0.98], P = 0.03)). In patients with mGBM, histological grade was a significant prognostic factor (pHR 1.633, [CI: 1.09-2.447], P = 0.018), as was age (P = 0.001) and surgical extent (P = 0.018). Although bias risk across studies was moderate, mGBM with grade II histology showed better OS rates when compared to hGBM.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 3","pages":"143-157"},"PeriodicalIF":2.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10111349","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

Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors. Lynch综合征相关脊索瘤具有高肿瘤突变负担和对免疫检查点抑制剂的显著反应。

IF 3.3 3区医学

Brain Tumor Pathology Pub Date : 2023-07-01 DOI: 10.1007/s10014-023-00461-w

Naoki Shinojima, Kazutaka Ozono, Haruaki Yamamoto, Sakiko Abe, Rumi Sasaki, Yusuke Tomita, Azusa Kai, Ryosuke Mori, Takahiro Yamamoto, Ken Uekawa, Hirotaka Matsui, Kisato Nosaka, Hiroaki Matsuzaki, Yoshihiro Komohara, Yoshiki Mikami, Akitake Mukasa

{"title":"Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors.","authors":"Naoki Shinojima, Kazutaka Ozono, Haruaki Yamamoto, Sakiko Abe, Rumi Sasaki, Yusuke Tomita, Azusa Kai, Ryosuke Mori, Takahiro Yamamoto, Ken Uekawa, Hirotaka Matsui, Kisato Nosaka, Hiroaki Matsuzaki, Yoshihiro Komohara, Yoshiki Mikami, Akitake Mukasa","doi":"10.1007/s10014-023-00461-w","DOIUrl":"https://doi.org/10.1007/s10014-023-00461-w","url":null,"abstract":"Chordoma is a rare malignant bone tumor arising from notochordal tissue. Conventional treatments, such as radical resection and high-dose irradiation, frequently fail to control the tumor, resulting in recurrence and re-growth. In this study, genetic analysis of the tumor in a 72-year-old male patient with refractory conventional chordoma of the skull base revealed a high tumor mutational burden (TMB) and mutations in the MSH6 and MLH1 genes, which are found in Lynch syndrome. The patient and his family had a dense cancer history, and subsequent germline genetic testing revealed Lynch syndrome. This is the first report of a chordoma that has been genetically proven to be Lynch syndrome. Chordomas usually have low TMB; however, this is an unusual case, because the TMB was high, and immune checkpoint inhibitors effectively controlled the tumor. This case provides a basis for determining the indications for immunotherapy of chordoma based on the genetic analysis. Therefore, further extensive genetic analysis in the future will help to stratify the treatment of chordoma.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":"40 3","pages":"185-190"},"PeriodicalIF":3.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9744997","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: 0