{"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":" ","pages":"53-59"},"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}
{"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":" ","pages":"43-47"},"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}
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":" ","pages":"2-9"},"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}
{"title":"Application of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.","authors":"Xue Chen, Xiaoxiang Gao, Jiaqi Bo, Haixia Bi, Haoyang Zhang, Yuting Liu, Jie Yu, Xianghua Yi, Fei Wang, Suxia Zhang, Yu Zeng","doi":"10.5414/NP301620","DOIUrl":"10.5414/NP301620","url":null,"abstract":"<p><strong>Objective: </strong>This research aims to examine the expression of carbonic anhydrase IX (CAIX) protein in hemangioblastoma of the central nervous system and its potential application in pathological diagnosis and differential diagnosis.</p><p><strong>Materials and methods: </strong>Immunohistochemistry was used to identify the expression of CAIX and the α-inhibin protein. The sensitivity and specificity of CAIX and α-inhibin for identifying hemangioblastoma of the central nervous system were compared. In addition, 86 patients with meningiomas were gathered to detect CAIX protein expression. Hemangioblastoma and angiomatous, microcystic the two subtypes of meningiomas, were compared for CAIX and EMA protein expression.</p><p><strong>Results: </strong>In hemangioblastoma, there were significant differences in the median positive percentage and staining intensity of CAIX and α-inhibin (p < 0.05). There was no discernible difference in the expression of the CAIX protein between sporadic hemangioblastoma of the central nervous system and those linked to von Hippel‒Lindau disease. In comparison to angiomatous and microcystic meningiomas, the positive rate of CAIX in hemangioblastomas was substantially greater (p < 0.001). The expression of EMA in microcystic meningioma (6/6) and angiomatous meningioma (17/17) was significantly different from hemangioblastoma (0/30) (p < 0.0001).</p><p><strong>Conclusion: </strong>Hemangioblastoma might be diagnosed with high specificity and sensitivity through CAIX immunohistochemistry. The combination of CAIX with EMA is useful for the diagnosis and differential diagnosis of hemangioblastoma.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"147-156"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362504","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}
{"title":"TTF-1 immunohistochemistry in primary CNS tumors: A systematic review.","authors":"Sumanta Das, Sunita Ahlawat, Jayati Sarangi, Arun Kumar Panda, Priti Jain, Rakesh Kumar Gupta, Sandeep Vaishya, Rana Patir","doi":"10.5414/NP301642","DOIUrl":"10.5414/NP301642","url":null,"abstract":"<p><p>Thyroid transcription factor-1 (TTF-1) is a nuclear protein primarily recognized for its role in the development and differentiation of thyroid, lung, and certain diencephalic tissues. Although well-established as an immunohistochemical marker in thyroid and lung cancers, recent studies have explored its expression and diagnostic value in primary central nervous system (CNS) tumors. This systematic review aims to consolidate current knowledge on TTF-1 immunohistochemistry in primary CNS tumors, assessing its prevalence, diagnostic utility, and clinical implications. The review encompasses various CNS tumor types, including subependymal giant cell astrocytoma, chordoid glioma, pituicytoma, ependymomas, astrocytomas, glioblastomas, medulloblastomas, and choroid plexus tumors, highlighting the potential role of TTF-1 in differentiating these neoplasms from other CNS and metastatic tumors. By synthesizing findings from multiple studies, this review underscores the diagnostic value of TTF-1 in the neuropathological evaluation of CNS tumors and suggests directions for future research to refine its clinical application.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"138-146"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513292","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}
{"title":"Thyroid cancer metastasis to the pituitary fossa: A clinical analysis and literature review.","authors":"Damjan Veljanoski, Agbolahan Sofela, Abdel-Rahman Abdel-Fattah, Aditya Shivane, Samiul Muquit","doi":"10.5414/NP301649","DOIUrl":"10.5414/NP301649","url":null,"abstract":"<p><strong>Background: </strong>A 71-year-old man presented with a history of headaches, blurred vision, diplopia, and right-sided ptosis. Magnetic resonance imaging (MRI) of the head revealed a 2.5 cm pituitary fossa lesion distorting the optic chiasm, with cavernous sinus invasion and frontal, temporal, and parieto-occipital lesions. Computed tomography (CT) found a retrosternal thyroid goiter. Biopsy of the occipital lobe lesion revealed metastatic papillary adenocarcinoma. Ultrasound-guided fine needle aspiration of the goiter and abnormal lymph nodes revealed Thy5. The patient underwent endoscopic transsphenoidal resection of the pituitary tumor, confirming papillary carcinoma of the thyroid. We sought to understand the clinico-radiological and histopathological features, treatment strategies, and outcomes of patients with thyroid cancer metastasis to the pituitary fossa.</p><p><strong>Materials and methods: </strong>A date- and language-unrestricted literature search was performed across the MEDLINE, Embase, and Scopus databases using keywords relating to metastasis, the pituitary and thyroid glands, and the brain. Citations reporting patients with thyroid metastasis to the pituitary fossa were included. A proforma was used to extract and store data from the included citations.</p><p><strong>Results: </strong>After deduplication, 2,833 citations were screened for eligibility, and 49 citations were included in the analysis.</p><p><strong>Conclusion: </strong>We present a rare case illustration and comprehensive literature review of patients with thyroid cancer metastasis to the pituitary fossa.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"157-165"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677808","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}
{"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":" ","pages":"23-28"},"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}