Neuropathology最新文献

{"title":"An autopsy case of progressive supranuclear palsy treated with monoclonal antibody against tau.","authors":"Goichi Beck, Rika Yamashita, Kansuke Kido, Kensuke Ikenaka, Tomoya Chiba, Yuki Yonenobu, Yuko Saito, Eiichi Morii, Masato Hasegawa, Shigeo Murayama, Hideki Mochizuki","doi":"10.1111/neup.12890","DOIUrl":"10.1111/neup.12890","url":null,"abstract":"<p><p>We report an autopsy case of progressive supranuclear palsy (PSP-Richardson syndrome). The individual had been enrolled in a phase 2 trial and received a monoclonal tau antibody (tilavonemab, ABBV-8E12); he died of intrahepatic cholangiocarcinoma and gastrointestinal bleeding during the clinical trial. Neuropathological examination demonstrated neuronal loss, gliosis, and widespread deposits of phosphorylated tau in the neurofibrillary tangles, tufted astrocytes, coiled bodies, and threads, which mainly occurred in the inferior olive nucleus, dentate nucleus of the cerebellum, substantia nigra, midbrain tegmentum, subthalamic nuclei, globus pallidus, putamen, and precentral gyrus, confirming typical PSP pathology. Phosphorylated tau was also found to accumulate in Betz cells, Purkinje cells, and pencil fibers in the basal ganglia. In conclusion, no additional changes or pathological modifications, which were expected from immunotherapy targeting tau, were visible in the present case.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918787","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":"Artificial intelligence techniques for neuropathological diagnostics and research.","authors":"Islam Alzoubi,&nbsp;Guoqing Bao,&nbsp;Yuqi Zheng,&nbsp;Xiuying Wang,&nbsp;Manuel B Graeber","doi":"10.1111/neup.12880","DOIUrl":"https://doi.org/10.1111/neup.12880","url":null,"abstract":"<p><p>Artificial intelligence (AI) research began in theoretical neurophysiology, and the resulting classical paper on the McCulloch-Pitts mathematical neuron was written in a psychiatry department almost 80 years ago. However, the application of AI in digital neuropathology is still in its infancy. Rapid progress is now being made, which prompted this article. Human brain diseases represent distinct system states that fall outside the normal spectrum. Many differ not only in functional but also in structural terms, and the morphology of abnormal nervous tissue forms the traditional basis of neuropathological disease classifications. However, only a few countries have the medical specialty of neuropathology, and, given the sheer number of newly developed histological tools that can be applied to the study of brain diseases, a tremendous shortage of qualified hands and eyes at the microscope is obvious. Similarly, in neuroanatomy, human observers no longer have the capacity to process the vast amounts of connectomics data. Therefore, it is reasonable to assume that advances in AI technology and, especially, whole-slide image (WSI) analysis will greatly aid neuropathological practice. In this paper, we discuss machine learning (ML) techniques that are important for understanding WSI analysis, such as traditional ML and deep learning, introduce a recently developed neuropathological AI termed PathoFusion, and present thoughts on some of the challenges that must be overcome before the full potential of AI in digital neuropathology can be realized.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9922089","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":"A case of trigeminal malignant melanotic nerve sheath tumor in the wide spectrum of melanotic and nerve sheath tumors.","authors":"Augusto Rachão,&nbsp;Margarida Ferro,&nbsp;Rafael Roque,&nbsp;Alexandre Rainha Campos,&nbsp;José Pimentel","doi":"10.1111/neup.12891","DOIUrl":"https://doi.org/10.1111/neup.12891","url":null,"abstract":"Sir, Nerve sheath tumors are heterogeneous and common nervous system tumors that can arise sporadically or in the context of several tumor predisposing syndromes. They can range from benign forms to malignant ones. On the other hand, primary melanotic nervous system tumors, or secondary ones, such as melanoma metastasis, are much less common. Malignant melanotic nerve sheath tumors (MMNSTs), formerly known as melanotic schwannomas, are rare tumors that can belong to both these groups. The rename was proposed in the most recent World Health Organization classification, considering its recently acknowledged highly aggressive profile. We report the case of a 42-year-old male, without any other personal or familiar relevant background, who was referred to a neurosurgery outpatient clinic due to a yearlong altered right facial sensitivity with paresthesia. Facial hypoesthesia in V1 and V2 divisions of the right trigeminal nerve was noticed. No other deficits were evidenced, and the remaining objective examination was unremarkable, namely for cutaneous lesions. Brain magnetic resonance imaging (MRI) displayed a space-occupying lesion in the right cavernous sinus, suggestive of a melanin-rich lesion. Three months later, the patient reported right facial hypoesthesia extending to V3, along with chewing difficulties lateralized to the right. A new MRI showed lesion growth toward Meckel’s cavum and the path of the right trigeminal nerve (Fig. 1), and the patient was referred to neurosurgery. Using a subtemporal, extradural approach, a lesion with black coloration that was confined to Meckel’s cavum between trigeminal fascicles was nearly completely removed (Fig. 1). The posterior fossa extent was also removed after all of the Meckel’s cavum portion was decompressed. Neuropathological examination revealed a fasciculate tumor with mixed epithelioid and spindled cells, with great nuclear polymorphism and atypia, however without necrosis, mitotic activity, or psammoma bodies. These elements were immunoreactive for vimentin, S100, SOX10, HMB45, and Melan-A, the latter two with a heterogeneous distribution (Fig. 2). A genetic analysis for the BRAF V600E mutation was negative. A diagnosis of MMNST was proposed, and the patient was further referred for stereotaxic radiotherapy (54 Gy in 30 fractions). MMNSTs are rare, pigmented, slowly growing neoplasms that account for less than 1% of all nerve sheath tumors. These tumors typically develop at an early age, with no sex predilection, and are most likely to be found in the spinal nerves and paraspinal ganglia, and rarely at an intracranial level. Histologically, they present with melanin-producing neoplastic Schwann cells, likely due to a shared neural crest cell background, and they can be divided into psammomatous and non-psammomatous forms. The psammomatous type has long been associated with the Carney complex, which also includes the presence of pigmented cutaneous lesions, cardiac myxoma, and endocrine tumors. ","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9922237","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":"A descriptive study of Parkinson disease and atypical parkinsonisms in the Annuals of the Pathological Autopsy Cases in Japan.","authors":"Yoshihiko Horimoto,&nbsp;Chikako Sato,&nbsp;Chise Anan,&nbsp;Ayuko Suzuki,&nbsp;Aki Inagaki,&nbsp;Toshihisa Tajima,&nbsp;Hiroaki Hibino,&nbsp;Hiroshi Inagaki","doi":"10.1111/neup.12876","DOIUrl":"https://doi.org/10.1111/neup.12876","url":null,"abstract":"<p><p>Although many entities have been established within the broad spectrum of Parkinson disease (PD) and atypical parkinsonisms, they are often difficult to differentiate. To clarify the current clinical diagnostic conditions and problems in PD and atypical parkinsonisms, we analyzed volumes of the Annuals of the Pathological Autopsy Cases in Japan. Among 130 105 autopsies conducted from 2007 to 2016 throughout Japan, patients were included in the study if they had been either clinically or pathologically diagnosed with PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP), or corticobasal degeneration (CBD). Autopsy rates were 6.4% for clinically diagnosed PD, 34.1% for MSA, 16.3% for PSP, and 17.4% for CBD. The specificities and sensitivities of clinical diagnoses were 88.0% and 82.0% for PD, 95.2% and 86.0% for MSA, 82.7% and 73.2% for PSP, and 55.4% and 57.7% for CBD, respectively. Clinical diagnoses had relatively high accuracy, but low autopsy rates are of concern. Many patients with rarer disorders were clinically misdiagnosed with PD, a more common disorder. Autopsy rates, irrespective of specific disorders, should be increased to detect rare diseases. Increasing autopsy rates will increase the available clinical information regarding pathologically confirmed patients and contribute to more accurate clinical diagnoses.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9976375","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":"An EWSR1-EZHIP fusion in a cerebral hemisphere astroblastoma.","authors":"Jing Liu,&nbsp;Dongjin Sun,&nbsp;Fan Lin,&nbsp;Yun Li,&nbsp;Tingting Wu,&nbsp;Xia Liu","doi":"10.1111/neup.12893","DOIUrl":"https://doi.org/10.1111/neup.12893","url":null,"abstract":"<p><p>Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44-year-old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10297318","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":"Rapid malignant transformation of an intracranial epidermoid cyst: Report of a case.","authors":"Deepti Narasimhaiah,&nbsp;Prakash Nair,&nbsp;Chandran Kesavadas,&nbsp;Rajalakshmi Poyuran","doi":"10.1111/neup.12884","DOIUrl":"https://doi.org/10.1111/neup.12884","url":null,"abstract":"<p><p>Intracranial epidermoid cysts (ECs) occur at various locations along the neuraxis and account for nearly 2% of all intracranial tumors. Considering the frequency of ECs, transformation of ECs into squamous cell carcinomas is a rare occurrence. Here, we report the case of a 39-year-old man who presented with a lesion in the left cerebellopontine angle and underwent gross total resection for the same. Histopathological examination revealed a benign EC with mild chronic inflammation. Five months later, the patient presented with another lesion at the same location with evidence of brainstem bleed. Histopathological examination revealed a moderately differentiated squamous cell carcinoma and remnants of the previous cyst in the form of lamellated keratin, indicating malignant transformation of the EC.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9570427","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":"Whorling-sclerosing meningioma invading skull bone and subcutaneous tissue with an incidental toxoplasmosis: A case report.","authors":"Zeina Alabbas,&nbsp;Yamani Tamer,&nbsp;Mhammad Jneidi,&nbsp;Rana Issa","doi":"10.1111/neup.12882","DOIUrl":"https://doi.org/10.1111/neup.12882","url":null,"abstract":"<p><p>Whorling-sclerosing meningioma (WSM) is a rare type of meningothelial tumor. Worldwide, only 31 cases have been reported. The diagnosis of this rare meningioma subtype is based principally on microscopic findings, wherein up to 70% of the tumor tissue should be formed by thick whorls of collagen. Notably, there is still disagreement about whether to consider this entity a benign meningioma (grade 1) or a meningioma with higher malignant potential (grade 2 or even grade 3). In fact, the paucity of reported WSM cases and, consequently, the lack of information about their follow up make their diagnosis and treatment challenging. Herein, we document the first case of WSM in Syria in a 75-year-old woman with an incidental finding of Toxoplasma gondii. Although WSM has not been mentioned in the recent World Health Organization classification of central nervous system tumors, it should be recognized to avoid incorrect diagnosis and spare the patients unnecessary radiotherapy and chemotherapy.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9623330","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":"Clinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.","authors":"Ryuichi Koizumi,&nbsp;Akio Akagi,&nbsp;Yuichi Riku,&nbsp;Jun Sone,&nbsp;Hiroaki Miyahara,&nbsp;Fumiaki Tanaka,&nbsp;Mari Yoshida,&nbsp;Yasushi Iwasaki","doi":"10.1111/neup.12868","DOIUrl":"https://doi.org/10.1111/neup.12868","url":null,"abstract":"<p><p>Progressive supranuclear palsy (PSP) can be diagnosed despite the presence of asymmetrical parkinsonism depending on the clinical diagnostic criteria. Some studies have reported that atrophy of the superior cerebellar peduncle (SCP) is more frequent in PSP than in Parkinson's disease. There have also been reports of PSP cases with an asymmetrically atrophic SCP. Therefore, we analyzed 48 specimens from consecutive autopsy cases that were neuropathologically diagnosed as PSP to investigate the laterality of brain lesions, including the SCP. We measured the width of the SCP and evaluated the laterality of atrophy. We semi-quantitatively evaluated neuronal loss, atrophy/myelin pallor, and tau pathology in three steps. Asymmetrical atrophy of the SCP was present in seven (14.6%) of 48 cases. The atrophic side of the SCP corresponded to the dominant side of the tau pathology in the cerebellar dentate nucleus. It was opposite to the dominant side of the myelin pallor and tau pathology in the red nucleus and of the tau pathology in the central tegmental tract and inferior olivary nucleus, coinciding with the neurologically systematic anatomy of the Guillain-Mollaret triangle. Neurodegeneration of PSP can progress asymmetrically from one side to the initially intact side in PSP with an initial predominance of Richardson's syndrome, progressive gait freezing, ocular motor dysfunction, parkinsonism, or corticobasal syndrome. To our knowledge, no previous study has reported asymmetrical PSP neuropathology; this is the first study to report the presence of PSP cases with asymmetrical SCP atrophy and systematically asymmetrical degeneration of the Guillain-Mollaret triangle.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9941688","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":"Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study.","authors":"Rajalakshmi Poyuran,&nbsp;Viswanadh Sri Venkata Ganesh Kalaparti,&nbsp;Bejoy Thomas,&nbsp;Krishnakumar Kesavapisharady,&nbsp;Deepti Narasimhaiah","doi":"10.1111/neup.12867","DOIUrl":"https://doi.org/10.1111/neup.12867","url":null,"abstract":"<p><p>Nonneoplastic epithelial cysts involving the central nervous system are diverse and are predominantly developmental in origin. This study represents a surgical series describing the histopathological features of 507 such epithelial cysts with clinical and imaging correlation. Age at surgery ranged from 7 months to 72 years (mean: 33 years) affecting 246 male and 261 female patients. Colloid cyst was the most frequently resected cyst, followed by epidermoid cyst, arachnoid cyst, Rathke cleft cyst, dermoid cyst, neurenteric cyst, Tarlov cyst, and choroid plexus cyst. Diagnosis was based on the location of the cysts and the nature of the lining epithelium. Rathke cleft cyst showed the highest propensity for squamous metaplasia, significant inflammation, and xanthogranulomatous reaction. Ulceration of lining epithelium and calcification were most frequent in dermoid cyst. Radiopathological concordance was maximal for colloid cyst, followed by epidermoid and arachnoid cysts. Epidermoid and dermoid cysts exhibited the highest propensity for local tumor progression, followed by Rathke cleft cyst.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9569699","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":"Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL-6/STAT3 signaling.","authors":"Keishiro Hojo,&nbsp;Takuya Furuta,&nbsp;Satoru Komaki,&nbsp;Yukako Yoshikane,&nbsp;Jin Kikuchi,&nbsp;Hideo Nakamura,&nbsp;Mizuki Ide,&nbsp;Saho Shima,&nbsp;Yusuke Hiyoshi,&nbsp;Junichiro Araki,&nbsp;Seiji Tanaka,&nbsp;Shuichi Ozono,&nbsp;Akihiko Yoshida,&nbsp;Sumihito Nobusawa,&nbsp;Motohiro Morioka,&nbsp;Ryuta Nishikomori","doi":"10.1111/neup.12877","DOIUrl":"https://doi.org/10.1111/neup.12877","url":null,"abstract":"<p><p>Pediatric neoplastic diseases account for about 10% of cases of fever of unknown origin (FUO), and most neoplastic disease cases are leukemia, lymphoma, and neuroblastoma. Brain tumors are rarely reported as the cause of FUO, although craniopharyngioma, metastatic brain tumor, and Castleman's disease have been reported. We report a case of intracranial mesenchymal tumor (IMT) with a FET:CREB fusion gene, which had inflammatory phenotype without neurological signs. A 10-year-old girl was admitted with a 2-month history of intermittent fever and headache, whereas her past history as well as her family history lacked special events. Sepsis work-up showed no pathological organism, and empirical antibiotic therapy was not effective. Bone marrow examination showed a negative result. Cerebrospinal fluid examination showed elevated protein as well as cell counts, and head magnaetic resonance imaging showed a hypervascular mass lesion with contrast enhancement in the left cerebellar hemisphere. The patient underwent tumor excision, which made the intermittent fever disappear. Pathological examinations resembled those of classic angiomatoid fibrous histiocytoma (AFH), but the morphological features were distinct from the AFH myxoid variant; then we performed break-apart fluorescence in situ hybridization and confirmed the tumor harbored the rare EWSR1::CREM fusion gene (Ewing sarcoma breakpoint region 1 gene (EWSR1) and cAMP response element binding (CREB) family gene). Consequently, we diagnosed the condition as IMT with EWSR1::CREM fusion. Elevated serum concentration of interleukin 6 (IL-6) was normalized after tumor resection, which suggested the fever could be caused by tumor-derived IL-6. This is the first case of IMT with EWSR1::CREM fusion that showed paraneoplastic symptoms associated with the IL-6/signal transducer and activator of transcription 3 (STAT3) signaling pathway. Although brain tumors are rarely diagnosed as a responsible disease for FUO, they should be considered as a cause of unknown fever even in the absence of abnormal neurological findings.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561221","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}