Clinical Neuropathology最新文献_第7页

Recurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review. 脊髓复发性高级别星形母细胞瘤伴MN1-BEND2融合并文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NP301497

Dongjin Sun, Jing Liu, Liling Xiao, Hong Guan

{"title":"Recurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review.","authors":"Dongjin Sun, Jing Liu, Liling Xiao, Hong Guan","doi":"10.5414/NP301497","DOIUrl":"https://doi.org/10.5414/NP301497","url":null,"abstract":"Astroblastoma is an uncommon tumor of the central nervous system. It is variable in morphology, but the astroblastic pseudorosettes and vascular hyalinization are the most important features. Most astroblastomas occur in the cerebral hemisphere. We report a recurrent high-grade astroblastoma with MN1-BEND2 fusion in the spinal cord. Two lesions were found in the T5-7 level and T12-L1 level, and they were well defined in images. Rhabdoid and signet-ring-like cells were observed. It may be classified as a high-grade tumor due to cellularity, high mitotic count, and pleomorphism. The tumor cells were diffusely positive for GFAP, Olig-2, and S-100 protein. We found the MN1 arrangement and the loss of chromosome 1p by FISH, and further validated the BEN domain containing 2 genes (BEND2), which is the fusion partner of meningioma 1 gene (MN1), by next-generation sequencing (NGS) and Sanger sequencing. The MN1 mutation is crucial in the diagnosis and prognosis of rare astroblastoma. The spinal cord astroblastoma may have a high recurrence rate because of the residual lesion at the unique location and higher grade; the connection with the gene mutation is unclear. Regular follow-up is necessary. Further study and more cases are needed to establish evidence for diagnosis, prognosis, and treatment of astroblastoma with molecular characteristics.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"30-39"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10751587","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 1-2023. 临床神经病理学1-2023。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NPP42001

Christian Mawrin

引用次数: 0

Argyrophilic grain disease pathology in a patient under 70 years of age: A brief case report and literature review. 70岁以下嗜银性谷粒病病理:一个简单的病例报告和文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301484

Sumit Das

引用次数: 0

Clinical Neuropathology 6-2022. 临床神经病理学6-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NPP41243

Christian Mawrin

引用次数: 0

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301480

Chunhui Cao, Haibo Long, Qin Shao

引用次数: 0

Primary central nervous system histiocytic sarcoma with somatic NF2 mutation: Case report and review of literature. 原发性中枢神经系统组织细胞肉瘤伴体细胞NF2突变:1例报告及文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301473

Wenbo Wang, Yunkun Zhang, Yang Dong, Shen Li, Huamin Qin

引用次数: 0

Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase. 远端遗传性神经病与丙烯酰-氨基酰基- trna合成酶的新突变有关。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301489

Yuan Yuan, Daojun Hong, Xuguang Gao, Jun Zhang

{"title":"Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase.","authors":"Yuan Yuan, Daojun Hong, Xuguang Gao, Jun Zhang","doi":"10.5414/NP301489","DOIUrl":"https://doi.org/10.5414/NP301489","url":null,"abstract":"To report a new genetic cause of distal hereditary motor neuropathy (dHMN), which is likely associated with worsening during pregnancy. We collected the clinical data of a patient with severe weakness of the lower limbs induced by repeated pregnancy and performed relevant experimental examinations, including neuromuscular electrophysiological examination, neuromuscular biopsy, and genetic testing. The patient reported weakness of the right lower extremity after delivery of the first child. Initially, the right foot was weak during lifting, and symptoms gradually progressed to weakness when landing on the toe during walking. She then developed weakness of the right lower extremity and thinning of the right leg. After an interval of 2.5 years, after delivery of the second child, her left lower extremity developed asthenia, with the same symptoms as previously reported for the right lower extremity. Subsequently, weakness of both lower extremities became progressively worse, and she developed difficulty sitting up, getting out of bed, and walking. Physical examination showed that both upper limb vertebral tracts were damaged and both lower extremity motor nerves were damaged. Electrophysiology suggested motor axonal neurogenic damage. Brain magnetic resonance imaging demonstrated leukodystrophy. Sural nerve biopsy suggested mild axonal damage. Skeletal muscle biopsy suggested neurogenic skeletal muscle damage. Genetic testing suggested that there was a heterozygous mutation at the shear site of the AARS gene. An AARS mutation may cause dHMN associated with pyramidal tract signs.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 6","pages":"271-276"},"PeriodicalIF":1.1,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10382664","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: 1

Clinical Neuropathology 4-2022. 临床神经病理学4-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-07 DOI: 10.5414/NPP41151

C. Mawrin

引用次数: 0

Diagnostic DNA methylome profiling and the WHO 5th edition CNS tumor classification. 诊断性DNA甲基组分析和WHO第5版中枢神经系统肿瘤分类。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-07 DOI: 10.5414/NP301493

Stephan Frank, J. Hench

引用次数: 0

DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy. DNAJB2 c.184C>T突变与带边框空泡肌病的远端遗传性运动神经病相关。