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Intratumoral histological and molecular heterogeneity in an adult diffuse glioma. 成人弥漫性胶质瘤的瘤内组织学和分子异质性。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-03-01 DOI: 10.5414/NP301598
Trishhani Yogaretnam, Josephine Heffernan, Rosa Leung, Ciara Heeney, Andrea Walsh, Seamus Looby, John Caird, Francesca M Brett
{"title":"Intratumoral histological and molecular heterogeneity in an adult diffuse glioma.","authors":"Trishhani Yogaretnam, Josephine Heffernan, Rosa Leung, Ciara Heeney, Andrea Walsh, Seamus Looby, John Caird, Francesca M Brett","doi":"10.5414/NP301598","DOIUrl":"10.5414/NP301598","url":null,"abstract":"<p><p>Adult-type diffuse gliomas are the most prevalent type of malignant adult brain tumors. Intratumoral heterogeneity can hinder accurate diagnosis and subsequent treatment. This case report documents a tumor with intratumoral heterogeneity, both histologically and by methylation analysis, located within the left cerebral hemisphere of a 29-year-old female. She presented after a witnessed generalized tonic clonic seizure at home. Two years prior she had a witnessed seizure; however, no brain imaging was done at the time. Magnetic resonance imaging (MRI), on this admission, showed a mass lesion in the left frontal operculum with poorly identified margins and right-sided midline shift. Sampling from the left temporal lobe showed an IDH-mutant, ATRX-mutant astrocytoma, which appeared grade 4 in the enhancing anterior portion and grade 2 in the left temporal lobe. Methylation analysis confirmed this heterogeneity. In summary, this is an excellent example of tumor heterogeneity both histologically and by molecular analysis. It is probable, given the clinical history of presentation 2 years prior, that this tumor originated as a low-grade glioma and subsequently evolved.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Gamma-delta T-cell lymphoma of the central nervous system: A case report and review of the literature. 中枢神经系统γ-δT细胞淋巴瘤：病例报告和文献综述。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-03-01 DOI: 10.5414/NP301596
Alexa T Andre, Meagan Chambers, Daniel E Sabath
{"title":"Gamma-delta T-cell lymphoma of the central nervous system: A case report and review of the literature.","authors":"Alexa T Andre, Meagan Chambers, Daniel E Sabath","doi":"10.5414/NP301596","DOIUrl":"10.5414/NP301596","url":null,"abstract":"<p><p>Primary T-cell lymphoma (TCL) of the central nervous system (CNS) is a rare and potentially aggressive entity. We describe a case of TCL presenting in the basal ganglia with γδ receptor expression and a remarkably aggressive clinical course. To the best of our knowledge, this is the fifth reported case of γδ TCL presenting in the CNS. We review existing literature, including the previously reported cases of γδ TCL of the CNS. In our case, a 69-year-old male presented with acute onset dysarthria and right-sided weakness, with initial imaging concerning for stroke. Repeat imaging demonstrated a 2.6-cm mass in the left basal ganglia-corona radiata. Pathologic examination of a stereotactic biopsy revealed TCL with γδ receptor phenotype. The patient suffered rapid clinical decline and passed away within 6 weeks of initial diagnosis. This represents an important differential diagnosis and sheds light on the potentially poor prognosis conferred by γδ TCL of the CNS.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Clinical Neuropathology 2-2024. 临床神经病理学 2-2024。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-03-01 DOI: 10.5414/NPP43041
Christian Mawrin
{"title":"Clinical Neuropathology 2-2024.","authors":"Christian Mawrin","doi":"10.5414/NPP43041","DOIUrl":"10.5414/NPP43041","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140177856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Olfactory groove schwannoma: Common pathology in an uncommon location. 嗅沟分裂瘤：不常见部位的常见病理。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-03-01 DOI: 10.5414/NP301605
Akhil Sunil, Sumit Thakar, Sanjay Honavalli Murali, Nayana Nagappa Sriramanakoppa, Saritha Aryan
{"title":"Olfactory groove schwannoma: Common pathology in an uncommon location.","authors":"Akhil Sunil, Sumit Thakar, Sanjay Honavalli Murali, Nayana Nagappa Sriramanakoppa, Saritha Aryan","doi":"10.5414/NP301605","DOIUrl":"10.5414/NP301605","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Endolymphatic sac tumor misdiagnosed as metastatic renal cell carcinoma: Pitfalls in morphology and immunohistochemistry. 被误诊为转移性肾细胞癌的内淋巴囊肿瘤：形态学和免疫组化的陷阱。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-03-01 DOI: 10.5414/NP301603
Wenjia Sun, Manxiang Wang, Junqiu Yue
{"title":"Endolymphatic sac tumor misdiagnosed as metastatic renal cell carcinoma: Pitfalls in morphology and immunohistochemistry.","authors":"Wenjia Sun, Manxiang Wang, Junqiu Yue","doi":"10.5414/NP301603","DOIUrl":"10.5414/NP301603","url":null,"abstract":"<p><p>Endolymphatic sac tumor (ELST) is a rare disease that originates from the endolymphatic sac system of the inner ear. Being a low-grade malignant tumor, ELST has a mild morphology and is characterized by a slow but aggressive growth. Most clinicians and pathologists are unfamiliar with this disease. ELST can be misdiagnosed as metastatic renal cancer because of the similarity in morphology and expression of nephrogenic markers such as PAX8. The presented case of a 27-year-old man revealed that observing the characteristic location and confirming the absence of renal neoplasm to rule out the possibility of metastasis are critical for obtaining an accurate final diagnosis.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
SWI/SNF-deficient tumors of the central nervous system: An update. 中枢神经系统SWI/ snf缺陷肿瘤:最新进展。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-01-01 DOI: 10.5414/NP301594
Martin Hasselblatt, Marcel Kool, Michael C Frühwald
{"title":"SWI/SNF-deficient tumors of the central nervous system: An update.","authors":"Martin Hasselblatt, Marcel Kool, Michael C Frühwald","doi":"10.5414/NP301594","DOIUrl":"10.5414/NP301594","url":null,"abstract":"<p><p>Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor of the central nervous system characterized by biallelic inactivation of SWI/SNF chromatin remodeling complex members SMARCB1/INI1 or (rarely) SMARCA4/BRG1. Most high-grade central nervous system lesions showing loss of nuclear SMARCB1 or SMARCA4 protein expression can indeed be categorized as AT/RT. However, some high-grade lesions have been identified, whose clinical and/or molecular features justify separation from AT/RT. Furthermore, other recently described tumor types such as desmoplastic myxoid tumor, SMARCB1-mutant, and low-grade diffusely infiltrative tumor, SMARCB1-mutant, may even manifest as low-grade lesions. Here, we review recent developments in the definition of the molecular landscape of AT/RT and give an update on other rare high- and low-grade SWI/SNF-deficient central nervous system tumors.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Clinical Neuropathology 1-2024. 临床神经病理学 1-2024。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-01-01 DOI: 10.5414/NPP43001
Christian Mawrin
{"title":"Clinical Neuropathology 1-2024.","authors":"Christian Mawrin","doi":"10.5414/NPP43001","DOIUrl":"10.5414/NPP43001","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138833126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Suprasellar masquerader: Chordoid glioma. 星状上伪装者：脊髓胶质瘤。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-01-01 DOI: 10.5414/NP301577
Neha Bhardwaj, Pravin Salunke, Navneet Singla, Chirag Ahuja, Chandrashekhar Gendle, Kirti Gupta
{"title":"Suprasellar masquerader: Chordoid glioma.","authors":"Neha Bhardwaj, Pravin Salunke, Navneet Singla, Chirag Ahuja, Chandrashekhar Gendle, Kirti Gupta","doi":"10.5414/NP301577","DOIUrl":"10.5414/NP301577","url":null,"abstract":"<p><strong>Background: </strong>Chordoid glioma is a rare well-circumscribed glial neoplasm arising in adults and predominantly affects females. Tanycytes of the third ventricle have been proposed as the cell of origin owing to its location. It is characterized by chordoid features with myxoid and inflammatory stroma and recurrent <i>PRKCA p.D463H</i> missense mutation.</p><p><strong>Case report: </strong>We present two cases (30-year-old female and 45-year-old male) with similar complaints of behavioral change and headache. Midline suprasellar homogeneously enhancing mass was seen on contrast-enhanced magnetic resonance imaging. Histopathology and immunohistochemistry was characteristic of chordoid glioma with cords and clusters of epithelioid cells arranged in a solid pattern. There were variable amounts of myxoid stroma and lymphoplasmacytic infiltrate. No mitosis, necrosis, or brain invasion was noted. The cells expressed strong diffuse positivity for glial fibrillary acid protein (GFAP) and weak nuclear thyroid transcription factor (TTF-1). Epithelial membrane antigen (EMA)and brachyury were negative. Subsequently, the lady underwent gross total excision and died soon after the operation. The male patient received radiotherapy and is currently doing well after 6 months of follow-up.</p><p><strong>Conclusion: </strong>The rare occurrence as well as the radiological and morphological overlaps in chordoid gliomas make them a true masquerader. Combination of GFAP and TTF-1 in the immunohistochemical panel can be useful in differential diagnosis. Mainstay of treatment is complete surgical excision, with adjuvant radiotherapy becoming increasingly important.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10171657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Histological and neuroimaging comparison of SMART syndrome versus focal neuronal gigantism. SMART 综合征与局灶性神经元巨球症的组织学和神经影像学比较。
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-01-01 DOI: 10.5414/NP301589
Ahmed Gilani, Bette K Kleinschmidt-DeMasters
{"title":"Histological and neuroimaging comparison of SMART syndrome versus focal neuronal gigantism.","authors":"Ahmed Gilani, Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301589","DOIUrl":"10.5414/NP301589","url":null,"abstract":"<p><p>Two of the rarest radiation-induced adverse effects are focal neuronal gigantism (FNG) and SMART syndrome (stroke-like migraine attacks after radiation therapy). Both conditions develop years, and sometimes decades, after receipt of therapeutic radiation to the brain. To date, there are only 3 previously reported cases of FNG, all of which describe cortical thickening, enlarged \"hypertrophic\" neurons, and neuronal cytological changes. No detailed studies exist of histological features of SMART or the comparison between FNG and SMART. In this study, we contrast histological and neuroimaging features of 3 FNG vs. 4 SMART cases, the latter diagnosed by a neuroradiologist, neurooncologist, and/or neurosurgeon. We confirm the cortical thickening, dyslamination, neuronal cytomegaly, and gliosis in FNG vs. cortical architectural preservation and normal neuronal cytology in SMART, although both showed gliosis, scattered neurons with cytoplasmic accumulation of tau and neurofibrillary protein and variable co-existence of other radiation-induced lesions. Both conditions lacked significant inflammation or consistent small vessel hyalinization throughout the entire resection specimen. The absence of pathognomonic histologic alterations in SMART cases suggests underlying vascular dysregulation. Despite differing histology, some overlap may exist in neuroimaging features. Molecular assessment conducted in 2 cases of FNG was negative for significant alterations including in the MAPK pathway.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Impact of environment on pediatric and adult brain tumors: The 2023 Brain Tumor Epidemiology Consortium meeting report. 环境对儿童和成人脑肿瘤的影响:2023年脑肿瘤流行病学联合会会议报告
IF 1.1 4区 医学
Clinical Neuropathology Pub Date : 2024-01-01 DOI: 10.5414/NP301590
Kimberly J Johnson, Luc Bauchet, Roberta McKean-Cowdin, Carol Kruchko, Ching C Lau, Quinn T Ostrom, Michael E Scheurer, John Villano, Yan Yuan
{"title":"Impact of environment on pediatric and adult brain tumors: The 2023 Brain Tumor Epidemiology Consortium meeting report.","authors":"Kimberly J Johnson, Luc Bauchet, Roberta McKean-Cowdin, Carol Kruchko, Ching C Lau, Quinn T Ostrom, Michael E Scheurer, John Villano, Yan Yuan","doi":"10.5414/NP301590","DOIUrl":"10.5414/NP301590","url":null,"abstract":"<p><p>The Brain Tumor Epidemiology Consortium (BTEC) is an international organization with membership of individuals from the scientific community with interests related to brain tumor epidemiology including surveillance, classification, methodology, etiology, and factors associated with morbidity and mortality. The 2023 annual BTEC meeting entitled <i>\"Impact of Environment on Pediatric and Adult Brain Tumors\"</i> was held in Lexington, KY, USA on May 22 - 24, 2023. The meeting gathered scientists from the United States, Canada, Australia, and Europe and included four keynote sessions covering genomic, epigenomic, and metabolomic considerations in brain tumor epidemiology, cancer clusters, environmental risk factors, and new approaches to cancer investigation. The meeting also included three abstract sessions and a brainstorming session. A summary of the meeting content is included in this report.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138483542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
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