Clinical Neuropathology最新文献

{"title":"Update on quality assurance in neuropathology: Summary of the round robin trials on <i>TERT</i> promoter mutation, <i>H3-3A</i> mutation, 1p/19q codeletion, and <i>KIAA1549::BRAF</i> fusion testing in Germany in 2020 and 2021.","authors":"Sandra Pohl,&nbsp;Lora Dimitrova,&nbsp;Maja Grassow-Narlik,&nbsp;Korinna Jöhrens,&nbsp;Till Acker,&nbsp;Hildegard Dohmen,&nbsp;Jochen Herms,&nbsp;Mario Dorostkar,&nbsp;Christian Hartmann,&nbsp;Martin Hasselblatt,&nbsp;Manuela Neumann,&nbsp;Guido Reifenberger,&nbsp;Jörg Felsberg,&nbsp;Ulrich Schüller,&nbsp;Saida Zoubaa,&nbsp;Julia Lorenz,&nbsp;Tanja Rothhammer-Hampl,&nbsp;Katrin Mauch-Mücke,&nbsp;Markus J Riemenschneider","doi":"10.5414/NP301547","DOIUrl":"10.5414/NP301547","url":null,"abstract":"<p><p>We previously reported on the first neuropathological round robin trials operated together with Quality in Pathology (QuIP) GmbH in 2018 and 2019 in Germany, i.e., the trials on <i>IDH</i> mutational testing and <i>MGMT</i> promoter methylation analysis [1]. For 2020 and 2021, the spectrum of round robin trials has been expanded to cover the most commonly used assays in neuropathological institutions. In addition to <i>IDH</i> mutation and <i>MGMT</i> promoter methylation testing, there is a long tradition for 1p/19q codeletion testing relevant in the context of the diagnosis of oligodendroglioma. With the 5^th edition of the World Health Organization (WHO) classification of the central nervous system tumors, additional molecular markers came into focus: <i>TERT</i> promoter mutation is often assessed as a molecular diagnostic criterion for IDH-wildtype glioblastoma. Moreover, several molecular diagnostic markers have been introduced for pediatric brain tumors. Here, trials on <i>KIAA1549::BRAF</i> fusions (common in pilocytic astrocytomas) and <i>H3-3A</i> mutations (in diffuse midline gliomas, H3-K27-altered and diffuse hemispheric gliomas, H3-G34-mutant) were most desired by the neuropathological community. In this update, we report on these novel round robin trials. In summary, success rates in all four trials ranged from 75 to 96%, arguing for an overall high quality level in the field of molecular neuropathological diagnostics.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 3","pages":"112-121"},"PeriodicalIF":1.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9441596","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":"Inflammatory myofibroblastic tumors: A short series with an emphasis on the diagnostic and therapeutic challenges.","authors":"Vikas Nishadham,&nbsp;Shilpa Rao,&nbsp;Akshaya Saravanan,&nbsp;Karthik Kulanthaivelu,&nbsp;Seena Vengalil,&nbsp;Hema A Venkatappa,&nbsp;Ravi Kiran Valasani,&nbsp;Mainak Bardhan,&nbsp;Nupur Pruti,&nbsp;Atchayaram Nalini,&nbsp;Anita Mahadevan","doi":"10.5414/NP301540","DOIUrl":"https://doi.org/10.5414/NP301540","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumors (IMTs) are a distinct entity of mesenchymal tumors. We present the challenges in their diagnosis and management.</p><p><strong>Materials and methods: </strong>A retrospective study with detailed clinical, radiological, and histopathological (HPE) features along with management and outcome of 10 biopsy-proven patients with IMT, between 2001 and 2020.</p><p><strong>Results: </strong>The location included intracranial (5), orbital (4), and spinal (1) with M : F = 7 : 3. The mean age of onset was in the third decade. The commonest symptom was headache, while proptosis and blurred vision occurred in orbital IMTs. HPE revealed diffuse infiltration of mixed inflammatory cells over proliferating myofibroblasts. Smooth muscle antigen immunoreactivity was noted in fibroblastic spindle cells of all IMTs. However, we did not find anaplastic lymphoma kinase expression in any of our cases, as this is only found in ~ 50% of all IMTs. Tumor infiltration into adjacent tissue was noted in 4 patients. Surgical excision was limited to orbital IMTs, as most central nervous system (CNS) tumors were not amenable for resection. Steroid administration showed moderate improvement in the IMT-CNS patients but also required additional immunomodulation. Four patients had a median long-term follow-up of 7 years. Two patients had recurrent lesions demonstrated by imaging after 2 years of initial presentation.</p><p><strong>Conclusion: </strong>IMTs are rare and ambiguous tumors of unknown etiology that can occur anywhere in the body. Clinical and radiological features may not be specific to determine the diagnosis, but it should be considered as a differential diagnosis. Extensive thorough workup with histopathology along with the help of immunohistochemistry is conducive to better clinical outcomes. Surgical biopsy with extensive and total resection of these tumors along with steroid and radiotherapy may enhance the survival outcomes.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 3","pages":"100-111"},"PeriodicalIF":1.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9491855","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":"Some CNS sarcomas seen: A 22-year series.","authors":"Bette K Kleinschmidt-DeMasters,&nbsp;Ahmed Gilani","doi":"10.5414/NP301512","DOIUrl":"https://doi.org/10.5414/NP301512","url":null,"abstract":"<p><strong>Aims: </strong>Central nervous system (CNS) and spine are seldom impacted by primary or metastatic sarcomas. We reviewed our 22-year experience with metastatic versus primary mesenchymal sarcomas in adults versus pediatric patients, additionally asking how many might today undergo nomenclature changes using CNS World Health Organization, 5^th edition criteria.</p><p><strong>Materials and methods: </strong>Case identification via text word search of pathology databases from our adult and pediatric referral hospitals, 2000 to August 2022, with exclusion of peripheral nervous system and primary chondro-osseous and notochordal tumors. Demographic, immunohistochemical, fluorescence in situ hybridization (FISH), and fusion results performed at the time of original diagnosis were acquired from reports.</p><p><strong>Results: </strong>57 cases were identified, with a 16 : 15 primary and 19 : 7 metastatic ratio in adult versus pediatric patients. Ewing sarcoma was the most frequent type (n = 18, 7 adult, 11 pediatric), with a rare primary PEComa, 2 alveolar soft part sarcomas, and metastatic angiosarcoma in the cohort. Only 3 cases, an intracranial sarcoma, DICER-1 mutant formerly diagnosed as rhabdomyosarcoma, an intracranial mesenchymal tumor, <i>FET::CREB</i> fusion-positive formerly diagnosed as angiomatoid fibrous histiocytoma, and a <i>CIC</i>-rearranged sarcoma required nomenclature updating by CNS WHO5 criteria.</p><p><strong>Conclusions: </strong>Few primary or metastatic, adult or pediatric, CNS/spinal sarcomas required nomenclature updates; almost all had been satisfactorily classified at the time of diagnosis, using immunohistochemistry, FISH, or fusion results.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"54-65"},"PeriodicalIF":1.1,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9136509","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":"Prognostic significance of PD-1, CTLA-4, CD4, and CD8 expression in olfactory neuroblastoma.","authors":"Linlin Wu,&nbsp;Hui Liu,&nbsp;Honggang Liu","doi":"10.5414/NP301519","DOIUrl":"https://doi.org/10.5414/NP301519","url":null,"abstract":"<p><p>There are limited data regarding immune surveillance mechanisms in olfactory neuroblastoma. We investigated the expression of programmed cell death protein 1 (PD-1), cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), CD4, and CD8 in olfactory neuroblastoma to identify potential therapeutic targets. Immunohistochemistry was used to detect PD-1 and CTLA-4 and measure the numbers of CD4⁺ and CD8⁺ T cells in 56 patients with olfactory neuroblastoma. The relationships between these molecules in tumor microenvironment, clinicopathological features, and survival were analyzed. The prevalence of PD-1 in Kadish C stage was 24.14%, significantly greater than in Kadish A and B stage. CD4⁺ T-cell and CD8⁺ T-cell levels correlated with higher Hyams histological grade and Kadish stage. In addition, PD-1 was related positively with CTLA-4, CD4⁺ T cells, and CD8⁺ T cells in olfactory neuroblastoma. Univariate survival analysis showed that higher PD-1 positivity, CD8⁺ T cells, and Hyams grade correlated with worse clinical outcome. Multivariate analysis showed that the expression of PD-1 was an independent parameter for poor prognosis. In conclusion, olfactory neuroblastoma with PD-1 expression had more aggressive clinicopathological features and worse prognosis. PD-1 may potentially predict the outcome of olfactory neuroblastoma patients.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"47-53"},"PeriodicalIF":1.1,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9136508","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":"Clinical Neuropathology 2-2023.","authors":"Christian Mawrin","doi":"10.5414/NPP42045","DOIUrl":"https://doi.org/10.5414/NPP42045","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"45-46"},"PeriodicalIF":1.1,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9511944","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":"Neuropathological features of adult-onset neuronal intranuclear inclusion disease with fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area from an early stage: A case report.","authors":"Taku Homma,&nbsp;Utako Nagaoka,&nbsp;Yasuhiro Nakata,&nbsp;Jun Sone,&nbsp;Asuka Funai,&nbsp;Aki Murayama,&nbsp;Cisato Tamai,&nbsp;Takashi Komori,&nbsp;Kazushi Takahashi","doi":"10.5414/NP301499","DOIUrl":"https://doi.org/10.5414/NP301499","url":null,"abstract":"<p><p>Neuronal intranuclear inclusion disease (NIID) is a neurological disorder characterized by eosinophilic intranuclear inclusions (INI) in systemic organs and various cell types. High-intensity signals along the corticomedullary junction on diffusion-weighted imaging and presence of cellular p62-INI in skin biopsy are known indicators for NIID. Furthermore, GGC repeat expansion in <i>NOTCH2NLC</i> is a characteristic genetic alteration in patients with NIID. This report presents the clinical and detailed pathological features of a male older adult with NIID. We also confirmed the presence of fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area, showing similar pathological changes in high-intensity signals along the corticomedullary junction on diffusion-weighted imaging.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"66-73"},"PeriodicalIF":1.1,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9494656","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":"Pediatric brain tumors: Origins, epidemiology, and classification - The 2022 Brain Tumor Epidemiology Consortium meeting report.","authors":"Kimberly J Johnson, Luc Bauchet, Stephen S Francis, Johannes A Hainfellner, Carol Kruchko, Ching C Lau, Quinn T Ostrom, Michael E Scheurer, Yan Yuan","doi":"10.5414/NP301520","DOIUrl":"10.5414/NP301520","url":null,"abstract":"<p><p>The Brain Tumor Epidemiology Consortium (BTEC) is an international organization that fosters collaboration among scientists focused on understanding the epidemiology of brain tumors with interests ranging from the etiology of brain tumor development and outcomes to the control of morbidity and mortality. The 2022 annual BTEC meeting with the theme \"Pediatric Brain Tumors: Origins, Epidemiology, and Classification\" was held in Lyon, France on June 20 - 22, 2022. Scientists from North America and Europe presented recent research and progress in the field. The meeting content is summarized in this report.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"74-80"},"PeriodicalIF":1.1,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9149444","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":"Uncommon histopathological features of cytomegalovirus encephalitis and measles inclusion body encephalitis on autopsy in two patients with primary immunodeficiency.","authors":"Ankur Jindal,&nbsp;Deepti Suri,&nbsp;Kirti Gupta,&nbsp;Ashwani Kumar,&nbsp;Vignesh Pandiarajan,&nbsp;Rakesh Kumar Pilania,&nbsp;Sandesh Guleria,&nbsp;Amit Rawat,&nbsp;Sameer Vyas,&nbsp;Anmol Bhatia,&nbsp;Surjit Singh,&nbsp;Bishan Dass Radotra","doi":"10.5414/NP301476","DOIUrl":"https://doi.org/10.5414/NP301476","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the neuropathological findings in two patients with primary immunodeficiency who had fatal viral encephalitis.</p><p><strong>Materials and methods: </strong>Severe combined immunodeficiency (SCID) was confirmed in case 1 by genetic testing, while case 2 had features suggestive of combined immunodeficiency; however, whole exome sequencing showed no pathogenic variants. Autopsies were performed in both cases after an informed consent. A detailed sampling of the brain including extracranial organs was conducted. Immunohistochemistry and electron microscopy was also performed to confirm the presence of viruses.</p><p><strong>Results: </strong>Besides evidence of cystic encephalomalacia observed in both cases, the brain in case 1 revealed cytomegalovirus (CMV) ventriculoencephalitis accompanied by an exuberant gemistocytic response in the entire white matter. Nuclei of gemistocytes were loaded with several CMV nuclear inclusions, which was confirmed by immunohistochemistry. Case 2 demonstrated features of measles inclusion body encephalitis with several viral inclusions within neurons and astrocytes. Rare giant cells were also seen. Measles virus was confirmed on immunohistochemistry and electron microscopy. Plausibly, there was paucity of microglial nodules in both cases. Superadded bacterial pneumonia with diffuse alveolar damage was also seen in both cases.</p><p><strong>Conclusion: </strong>These cases add to the spectrum of unusual histological features of viral encephalitis seen in patients with underlying primary immunodeficiency diseases.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"15-25"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10754872","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":"Colloid cyst with hyphal-like structures: A rarity that mimics actinomycosis of athe third ventricle.","authors":"Dirar Aldabek,&nbsp;Martina Deckert,&nbsp;Christian Mawrin,&nbsp;Jan-Peter Warnke","doi":"10.5414/NP301456","DOIUrl":"https://doi.org/10.5414/NP301456","url":null,"abstract":"<p><p>Colloid cysts are histologically well defined and consist of three main components, a capsule, with an underlying epithelial layer, and a mucinous heart. In our case, we present a 35-year-old female with acute deterioration of level of consciousness. An emergent CT scan showed a cystic lesion occluding the intraventricular foramen. The lesion was endoscopically excised through a transfrontal approach. Microscopic examination of the resected specimen revealed hyphal-like structures (HLS). This rare finding was first described by Dodds and Powers in 1977 and, in its microscopic nature, it mimics actinomyces of the third ventricle.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"26-29"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10751586","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":"Clinical Raman spectroscopy of brain tumors from an interdisciplinary perspective.","authors":"Roberta Galli,&nbsp;Tareq A Juratli,&nbsp;Ortrud Uckermann","doi":"10.5414/NP301522","DOIUrl":"https://doi.org/10.5414/NP301522","url":null,"abstract":"<p><p>Raman spectroscopy is an optical technology that probes tissue composition and is envisioned for clinical applications in neurosurgery. Here, we provide an overview of basic and translational research addressing brain tumor delineation and diagnosis and identify potential scenarios for routine clinical use of Raman spectroscopy. Moreover, we discuss the practical technical requirements in the context of daily use as well as open questions regarding automated tissue assessment.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"2-14"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9346004","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}