Clinical Neuropathology最新文献_第7页

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。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-02 DOI: 10.5414/NP301466

Meige Liu, Yan Xu, D. Hong, L. Cong, Yangyi Fan, Jun Zhang

引用次数: 1

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review. 家族性肌萎缩性侧索硬化症伴SOD1基因突变的临床表型模拟近端肌病:1例报告和文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-02 DOI: 10.5414/NP301459

Jingjing Sun, Chengning Zhang, Lin Wang, H. Bi

{"title":"Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.","authors":"Jingjing Sun, Chengning Zhang, Lin Wang, H. Bi","doi":"10.5414/NP301459","DOIUrl":"https://doi.org/10.5414/NP301459","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS) is a disorder with strong clinical and genetic heterogeneity, and its pathogenic mechanism has not been completely clarified. Proximal myopathy is rare in clinical manifestations of ALS. Here, we describe a 34-year-old woman with a 1-year history of symmetrical, proximal limb weakness, and muscle atrophy, with slow progression and no upper motor neuron (UMN) signs. The clinical phenotype was similar to myopathy and was initially misdiagnosed as proximal myopathy. Electromyography (EMG) and muscle and nerve biopsy were performed. The genomic DNA from the patient's peripheral blood lymphocytes was analyzed. The EMG and pathologic examinations revealed chronic neurogenic changes and mild mixed peripheral neuropathy. DNA analysis revealed a heterozygous missense mutation in exon 1 at codon 50 (c.50G>C) of SOD1, and a heterozygous missense mutation in exon 11 at codon 1013 (c.1013G>A) of CPT1C that has not been reported previously. The patient was diagnosed as familial ALS (FALS) type 1, and the patient had a family history of autosomal dominant (AD) pattern. This report expands the knowledge of the clinical phenotype of FALS. For patients with clinical manifestations mimicking proximal myopathy, the possibility of underlying ALS should be considered.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46121015","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

A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3. COA7基因的一个新的复合杂合突变导致一名中国脊髓小脑共济失调伴3型轴索神经病变患者。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-23 DOI: 10.5414/NP301457

Yuwei Tang, Meng Yu, Wei Zhang, H. Lv, Jianwen Deng, Jing Liu, Xin Shi, W. Liang, Zhi-rong Jia, Yun Yuan, Zhaoxia Wang, L. Meng

{"title":"A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.","authors":"Yuwei Tang, Meng Yu, Wei Zhang, H. Lv, Jianwen Deng, Jing Liu, Xin Shi, W. Liang, Zhi-rong Jia, Yun Yuan, Zhaoxia Wang, L. Meng","doi":"10.5414/NP301457","DOIUrl":"https://doi.org/10.5414/NP301457","url":null,"abstract":"OBJECTIVE\u0000Spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3) is a very rare autosomal recessive hereditary disease. Mutations in the COA7 gene, which encodes cytochrome c oxidase assembly factor 7, have been recently reported as the causative gene of SCAN3. So far, only five SCAN3 patients with COA7 mutations have been documented. Herein, we report the clinical, electrophysiological, histological, and genetic findings of a Chinese patient with SCAN3.\u0000\u0000\u0000MATERIALS AND METHODS\u0000The patient was a 31-year-old woman who presented with early-onset peripheral neuropathy and progressive ataxia. She was asked about her medical history and underwent electrophysiological examination, nerve and muscle biopsy, and gene detection.\u0000\u0000\u0000RESULTS\u0000Whole exome next-generation sequencing identified a novel compound heterozygous mutation of COA7 (c.17A>G p.D6G; c.554G>A, p.W185*) in this patient. Magnetic resonance imaging showed cerebellum and spinal cord atrophy. Nerve conduction studies and sural nerve biopsies revealed sensorimotor axonal neuropathy. Muscle biopsies showed mitochondrial abnormalities. Respiratory chain enzyme assay of skin fibroblasts showed normal respiratory chain complex activities. Additionally, the clinical data on previously reported SCAN patients with identified genetic causes in PubMed was summarized. Compared with SCAN1 and SCAN2 patients, SCAN3 patients had earlier onset age, less cognitive impairment, and no ocular signs.\u0000\u0000\u0000CONCLUSION\u0000We reported the first patient diagnosed with SCAN3 in China. A novel mutation in the gene COA7 (c.554G>A, p.W185*) expanded the genetic spectrum of the disease.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46226135","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

A case report of a novel NTRK gene fusion in pleomorphic xanthoastrocytoma. 一例新型NTRK基因融合治疗多形性黄色星形细胞瘤的病例报告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-16 DOI: 10.5414/NP301455

Melek Ahmed, M. De Praeter, J. Verlooy, A. Schoonjans, S. Dekeyzer, S. Vanden Bossche, M. Lammens, P. Pauwels

引用次数: 0

Life and death of molecular subclones in recurrent meningioma: A case study. 复发性脑膜瘤分子亚克隆的生与死:一个案例研究。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-16 DOI: 10.5414/NP301365

N. Abele, E. Kirches, I. Sandalcioglu, W. Braunsdorf, C. Mawrin

{"title":"Life and death of molecular subclones in recurrent meningioma: A case study.","authors":"N. Abele, E. Kirches, I. Sandalcioglu, W. Braunsdorf, C. Mawrin","doi":"10.5414/NP301365","DOIUrl":"https://doi.org/10.5414/NP301365","url":null,"abstract":"Meningiomas are the most common primary intracranial tumors, of which atypical meningiomas account for ~ 20%. A loss of NF2 has been proven to be an initial step for meningioma development; however, the role of non-NF2 alterations is unknown. Here we report a case of an atypical meningioma with a NF2 splice donor mutation and four recurrences. Using a custom NGS panel, further complex heterogenic molecular alterations were discovered. At first, one subclone of the initial tumor showed an additional PIK3CA variant, most likely of no pathogenic relevance. Then, the first and second recurrences no longer harbored the PIK3CA variant and no tumor heterogeneity was found. The tumor-driving NF2 mutation persisted, however. The latest, third recurrence showed a remarkable genetic heterogeneity with multiple, additional non-NF2 variants and a pathogenic PIK3CA mutation. In detail, one subclone showed a SUFU and two SMARCE1 variants. Another, geographically separate tumor subclone, in contrast, showed several different non-NF2 variants in SMO, PIK3CA and SUFU. Most important, one of the newly acquired PIK3CA alterations in the kinase domain (L1006F) is likely to be an additional tumor-driving mutation, which activates the PI3K-AKT-mTOR pathway. The reported genetic heterogeneity in meningiomas has been addressed in only a few studies. Although some of the detected variants in our case are expected to have biochemical consequences, these consequences are usually not likely to promote tumor development, when taking into account the suggested role of the altered proteins in tumorigenic pathways. However, the occurrence of a single oncogenic missense mutation in a subclone of the third recurrence may indicate a clonal change towards enhanced aggressiveness. Taken together, our case supports the need to perform in-depth studies to clarify the role of non-NF2 mutations for meningioma growth and development.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"1 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70972687","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

An aggressive lactotroph pituitary tumor in a young male: A pituitary carcinoma without metastasis. 一例年轻男性的侵袭性乳营养垂体瘤：一例无转移的垂体癌。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-16 DOI: 10.5414/NP301458

Friederike E Roelandt-Schumann, R. Vergeer, A. G. Korsten-Meijer, M. Kramer, H. Westerlaan, J. Pott, J. Nuver, G. van den Berg, W. D. Den Dunnen

{"title":"An aggressive lactotroph pituitary tumor in a young male: A pituitary carcinoma without metastasis.","authors":"Friederike E Roelandt-Schumann, R. Vergeer, A. G. Korsten-Meijer, M. Kramer, H. Westerlaan, J. Pott, J. Nuver, G. van den Berg, W. D. Den Dunnen","doi":"10.5414/NP301458","DOIUrl":"https://doi.org/10.5414/NP301458","url":null,"abstract":"This case report concerns a 31-year-old male with an aggressive pituitary tumor who presented initially with bitemporal hemianopsia and slightly elevated prolactin. On magnetic resonance imaging of the brain, there was a sellar mass with parasellar invasion to the lateral aspects of the internal carotid arteries, compressing the optic chiasm. On histopathological analysis, the diagnosis was made of a densely granulated lactotroph pituitary tumor with a Ki67 proliferation rate of 15%, a mitotic count of 6/10 high-power fields, and p53 positivity. Based on these features, the tumor was classified as a grade 2b tumor according to the Trouillas classification, and a more aggressive behavior of the tumor could be expected. In order to anticipate a future need for alternative drug treatments, the following analyses were undertaken: MGMT methylation (present) as well as the expression of estrogen receptor (negative), programmed-death ligand 1 (60 - 70% positive tumor cells), vascular endothelial growth factor-A and somatostatin receptor 2 (both positive). There was regrowth of residual tumor tissue, and the treatment consisted thus far of repeat surgery, cabergoline, pasireotide, and radiotherapy. Chemotherapy with temozolomide could not yet be initiated due to a concurrent infertility treatment. This case is unique because the tumor displays atypical characteristics, both in terms of morphology and behavior. It also illustrates how pathologists can play an important role in determining the diagnosis, prognosis, and possibilities for targeted therapy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"1 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42162466","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