Clinical Neuropathology最新文献_第3页

Glioblastoma, IDH-wildtype with melanocytic differentiation: An exceedingly rare morphology and immunophenotype. 胶质母细胞瘤，idh野生型伴黑素细胞分化：一种极其罕见的形态和免疫表型。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NP301736

Simone Poidomani, Serena Salzano, Gaetano Magro, Giuseppe Broggi

引用次数: 0

Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges. 后窝室管膜瘤携带H3K27M突变：一例罕见病例报告，临床随访和诊断挑战。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301708

Sumanta Das, Bheru Dan Charan, Sunita Ahlawat, Rakesh Kumar Gupta, Salman Shaikh, Noopur Sharma, Suman S Karanth, Rana Patir

{"title":"Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges.","authors":"Sumanta Das, Bheru Dan Charan, Sunita Ahlawat, Rakesh Kumar Gupta, Salman Shaikh, Noopur Sharma, Suman S Karanth, Rana Patir","doi":"10.5414/NP301708","DOIUrl":"10.5414/NP301708","url":null,"abstract":"Posterior fossa ependymomas may be classified based on H3 p.K28Me3 (also called as H3K27Me3 or K27Me3) expression status, with group A characterized by loss of K27Me3 expression. We present a rare case of posterior fossa ependymoma with H3K27M mutation, typically associated with diffuse midline gliomas. A 5-year-old child presented with headache and vomiting. Magnetic resonance imaging (MRI) revealed a 4th ventricular space-occupying lesion extending through the bilateral foramina of Luschka, radiologically consistent with ependymoma. Following maximal surgical resection and radiotherapy (60 Gy), the patient experienced recurrence after 1 year. Histopathological examination showed a moderately to highly cellular tumor with perivascular pseudorosettes and brisk mitotic activity. Immunohistochemistry demonstrated diffuse GFAP positivity, OLIG2 negativity, and characteristic dot-like EMA positivity. Notably, the tumor showed loss of K27Me3 expression and strong diffuse nuclear expression of H3K27M and EZH2. While H3K27M mutations are hallmark features of diffuse midline gliomas, rare cases of posterior fossa ependymomas harboring these mutations have been reported. Recent studies suggest molecular similarities between diffuse midline gliomas and posterior fossa ependymomas expressing H3K27M and EZHIP, potentially reflecting shared hindbrain developmental programs in their biological origins.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"10-16"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999520","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 1-2026. 临床神经病理学1-2026。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NPP45001

Christian Mawrin

引用次数: 0

The role of immunohistochemical CIC expression in oligodendrogliomas for recurrence risk stratification. 免疫组织化学CIC表达在少突胶质细胞瘤复发风险分层中的作用。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301713

Elif Dogan Kabadayi, Mehmet Arda Temena, Fevziye Ilknur Kayali, Havva Beyaz, Ahmet Deniz Belen, Servet Guresci

{"title":"The role of immunohistochemical CIC expression in oligodendrogliomas for recurrence risk stratification.","authors":"Elif Dogan Kabadayi, Mehmet Arda Temena, Fevziye Ilknur Kayali, Havva Beyaz, Ahmet Deniz Belen, Servet Guresci","doi":"10.5414/NP301713","DOIUrl":"10.5414/NP301713","url":null,"abstract":"Oligodendrogliomas (ODG) account for ~ 5 - 7% of neuroepithelial tumors. Since the 2016 World Health Organization classification, ODG have been defined by IDH mutation and 1p/19q co-deletion, a genetic profile typically linked with classic oligodendroglial morphology and better survival compared with astrocytic gliomas. Although this genotype is considered a favorable prognostic marker, a subset of ODGs shows early recurrence and aggressive behavior, highlighting the need for additional prognostic indicators. Capicua (CIC), located on chromosome 19q13.2, is a transcriptional repressor downstream of receptor tyrosine kinase signaling. Loss of CIC function increases neural stem cell proliferation, promotes oligodendrocyte progenitor specification, and activates proliferative pathways. Somatic CIC alterations have been reported in up to 70% of ODGs, nearly always in the setting of 1p/19q co-deletion. In this study, we investigated the prognostic value of CIC immunohistochemical (IHC) expression in a homogeneous cohort of IDH-mutant, 1p/19q-codeleted ODGs. Our results demonstrated that complete CIC expression loss and 19q polysomy greater than 22.5%, together with mitotic counts ≥ 6 per 10 high-power fields, were significantly associated with early disease recurrence. Although the absence of molecular confirmation of CIC alterations limits interpretation, the findings suggest that CIC IHC can serve as a surrogate marker to identify patients who may benefit from additional molecular analysis. Conclusion: CIC; loss, 19q polysomy, and elevated mitotic activity may function as valuable prognostic indicators in ODGs. These features could improve risk stratification and guide personalized therapeutic strategies in otherwise favorable cases.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"2-9"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999576","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

Cobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature. 先天性巨细胞病毒感染所致的卵石状无脑畸形：1例报告及文献复习。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301711

Sumit Das, Eric Lachance, Jake Mandziuk

{"title":"Cobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature.","authors":"Sumit Das, Eric Lachance, Jake Mandziuk","doi":"10.5414/NP301711","DOIUrl":"10.5414/NP301711","url":null,"abstract":"Lissencephaly is a migrational disorder that results in abnormal gyration and cortical lamination. Type 1 lissencephaly is characterized by absent or reduced number of gyri giving the brain a smooth appearance, while type 2 lissencephaly (cobblestone lissencephaly) is described as over-migration of neurons or neuronal precursors beyond the glia-pial limitans giving rise to a cobblestone appearance of the cerebral hemispheres. Both types of lissencephaly are typically thought of as congenital anomalies secondary to genetic defects while cases of lissencephaly due to acquired injury is rare. The few examples that do exist in the literature mainly describe changes in keeping with type 1 lissencephaly. We present here an unusual case of a fetus with brain structural changes consistent with cobblestone lissencephaly with concurrent CMV (cytomegalovirus) meningoencephalitis. Our patient is a 23-week-old stillborn fetus of a 28-year-old G1P0 mother who underwent elective termination of this pregnancy after ultrasound and fetal MRI revealed multiple brain anomalies. Post-mortem examination of the fetus revealed evidence of CMV infection involving multiple systemic organs and the brain. Evidence of malformative lesions included cobblestone appearance of the cerebral hemispheres, enlarged lateral ventricles, and focal polymicrogyria. Normal diploid complement for chromosomes 13, 18, and 21 was revealed by rapid aneuploidy testing. While single case reports of CMV with features in keeping with type 1 lissencephaly have been described in the literature, to the authors' knowledge this is the first example of cobblestone lissencephaly observed in the context of congenital CMV infection.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"26-31"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145936534","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

Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC. 在NOTCH2NLC中，伴有交替偏瘫、偏头痛和脑肿胀的个体中出现与GGC重复扩增相关的奇异星形胶质细胞伴细胞质/核内包涵体。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301709

Kaoru Yagita, Kyoko Kanazawa, Terunori Sano, Kunio Toda, Yuji Nakayma, Risa Kagaya, Noriko Sato, Yuji Takahashi, Masaki Takao

{"title":"Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC.","authors":"Kaoru Yagita, Kyoko Kanazawa, Terunori Sano, Kunio Toda, Yuji Nakayma, Risa Kagaya, Noriko Sato, Yuji Takahashi, Masaki Takao","doi":"10.5414/NP301709","DOIUrl":"10.5414/NP301709","url":null,"abstract":"The aberrant GGC repeat expansion in the 5'-untranslated region of the NOTCH2NLC gene causes neuronal intranuclear inclusion disease (NIID), a progressive neurodegenerative disorder. The clinical features of NIID are highly variable and include cognitive dysfunction, peripheral neuropathy, and episodic neurogenic symptoms. The pathogenesis of episodic symptoms in NIIDs remains unknown, and histopathological studies are limited. Here, we report an autopsy case of NIID in a 32-year-old Japanese female who developed severe episodic symptoms, including hemiplegic migraine, seizures, and impaired consciousness. Her major episodic symptoms appeared at the age of 16 years and were accompanied by alternating brain edema. She developed severe episodic symptoms with right brain edema at the age of 31. She became bedridden due to irreversible brain lesions and died 1 year later from a catheter-related bloodstream infection. Neuropathological analyses revealed numerous neuronal intranuclear inclusions and white matter lesions. In addition, bizarre astrocytes with eosinophilic cytoplasmic or intranuclear inclusions were observed. GFAP immunoreactivity in the bizarre astrocytes was diminished, AQP4 showed a disorganized distribution. The histological changes observed in this case suggest an association between non-neuronal cellular disturbances and episodic neurogenic symptoms in NIIDs.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"17-25"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145514966","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

Diagnostic pitfall: BCOR immunoreactivity in a molecularly confirmed astroblastoma, MN1-altered (HGNET-MN1). 诊断缺陷：分子证实的星形母细胞瘤的BCOR免疫反应性，mn1改变（HGNET-MN1）。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301715

Palgun Nisarga, Bhagyashree Rathore, Parsa Hodjat, Betul E Derinkuyu, Richard T Graham, Jesse Skoch, Daniel Leino, Kirti Gupta

引用次数: 0

Clinical Neuropathology 6-2025. 临床神经病理学6-2025。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-12-08 DOI: 10.5414/NPP44223

Christian Mawrin

引用次数: 0

Brain tumor microenvironment: Mechanisms, interactions, and therapeutic opportunities. 脑肿瘤微环境：机制、相互作用和治疗机会。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-11-01 DOI: 10.5414/NP301671

Adil Aziz Khan, Annmy Jose, Sana Ahuja, Niti Sureka, Sufian Zaheer

引用次数: 0

Spreading pattern of phosphorylated tau-positive granular glial pathology in the cerebral white matter of patients with multiple system atrophy. 多系统萎缩患者脑白质中磷酸化tau阳性颗粒胶质病理的扩散模式。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-11-01 DOI: 10.5414/NP301689

Taku Homma, Yoko Mochizuki, Shinsuke Tobisawa, Keisuke Ishizawa, Kazushi Takahashi, Takashi Komori

{"title":"Spreading pattern of phosphorylated tau-positive granular glial pathology in the cerebral white matter of patients with multiple system atrophy.","authors":"Taku Homma, Yoko Mochizuki, Shinsuke Tobisawa, Keisuke Ishizawa, Kazushi Takahashi, Takashi Komori","doi":"10.5414/NP301689","DOIUrl":"10.5414/NP301689","url":null,"abstract":"Multiple system atrophy (MSA) is a major neurodegenerative disorder characterized by phosphorylated α-synuclein-positive oligodendroglial cytoplasmic inclusions. The presence of phosphorylated τ-positive granular glia (pTGrG) in the cerebral white matter and putamen has recently been reported, and it has been suggested that pTGrG pathology may be a common pathological feature of MSA. However, its spreading pattern and relationship with clinical features remain unclear. We examined the spreading pattern of pTGrG pathology and the clinical factors associated with it. The middle frontal, precentral, and middle temporal gyri, as well as the inferior parietal lobule and occipital lobe were histopathologically examined in 14 patients with clinicopathologically confirmed MSA. A distinct spreading pattern of pTGrG pathology was revealed, initially detected in the precentral white matter and subsequently extending to the parietal, frontotemporal, and occipital white matter. The severity of pTGrG pathology significantly correlated with disease duration and tracheostomy duration, but was not associated with any clinical MSA subtype or with dementia. The findings suggest that pTGrG is a common pathological feature of MSA with a unique spreading pattern, and with correlations to duration of disease and tracheostomy, thereby highlighting its potential as a biomarker for disease progression.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"242-252"},"PeriodicalIF":0.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979400","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