Clinical Neuropathology最新文献_第7页

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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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

Prognostic value of microvessel density and its correlation with clinicopathological features in human olfactory neuroblastoma. 微血管密度对人嗅神经母细胞瘤的预后价值及其与临床病理特征的相关性。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301447

Linlin Wu, Jianduo An, Honggang Liu

引用次数: 0

Parsonage-Turner syndrome and cytomegalovirus disease. 牧师-特纳综合征和巨细胞病毒病。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301409

Antonio Mastroianni, Maria Vittoria Mauro

引用次数: 2

Hashimoto's encephalopathy presenting as Wernekinck commissure syndrome: A case report. 桥本脑病表现为Wernekinck连接综合征:1例报告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301399

Xiaojia Tang, Xiaojie Liu, Jian Jing, Li Jiang, Peipei Liu, Yingzhu Chen

{"title":"Hashimoto's encephalopathy presenting as Wernekinck commissure syndrome: A case report.","authors":"Xiaojia Tang, Xiaojie Liu, Jian Jing, Li Jiang, Peipei Liu, Yingzhu Chen","doi":"10.5414/NP301399","DOIUrl":"https://doi.org/10.5414/NP301399","url":null,"abstract":"The Wernekinck commissure syndrome is extremely rare in a clinical setting. This condition has been previously reported in association with midbrain infarction, midbrain hemorrhage, demyelinating pseudotumor, and optic neuromyelitis spectrum disease, but not with Hashimoto's encephalopathy. Herein, we report the case of a 44-year-old hypertensive man who developed cerebellar ataxia, internuclear ophthalmoplegia, and cognitive decline. Magnetic resonance imaging (MRI) of the brain revealed brain stem damage involving Wernekinck commissure. Initially, this patient was diagnosed with acute midbrain infarction in another hospital. However, his symptoms did not improve after the administration of anti-platelet aggregation drugs, statin, and free radicals scavenging treatment. Re-examination of cranial MRI revealed abnormal signals in the left parietal lobe. After a series of investigations that excluded cerebral infarction and neurodegenerative diseases, Hashimoto's encephalopathy was finally diagnosed. The patient's symptoms improved remarkably after treatment with methylprednisolone and γ-globulin. To the best of our knowledge, there are no other reports on the onset of Wernekinck commissure syndrome in the clinical manifestations of Hashimoto's encephalopathy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39876625","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: 3

Sellar metastasis from clear cell sarcoma: Description of the first case. 透明细胞肉瘤的鞍区转移:第一例病例描述。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301448

Francesco Doglietto, Linda Daffini, Elena Fazzari, Manuela Cominelli, Francesca Pagani, Pietro Luigi Poliani

{"title":"Sellar metastasis from clear cell sarcoma: Description of the first case.","authors":"Francesco Doglietto, Linda Daffini, Elena Fazzari, Manuela Cominelli, Francesca Pagani, Pietro Luigi Poliani","doi":"10.5414/NP301448","DOIUrl":"https://doi.org/10.5414/NP301448","url":null,"abstract":"Metastases to the sellar region and pituitary gland are rare and usually occur in advanced cancers, commonly breast and lung adenocarcinomas. Metastases from sarcomas to the pituitary gland are extremely rare. Here, we report the case of a 52-year-old man who had undergone surgery and radiotherapy for a clear cell sarcoma (CCS) of the knee at age of 42. The patient underwent resection of 2 distinct metastatic lung nodules 9 years later. During follow-up, he developed a persistent headache and diabetes insipidus. MRI revealed a sellar and suprasellar lesion, which was removed with an endoscopic trans-sphenoidal approach. Histopathology was consistent with CSS metastasis. At 2-year follow-up, there was no evidence of local recurrence in the sella, while a single brain metastasis was documented, together with other deposits in the paravertebral and pelvic muscles. CCS is a rare, aggressive neoplasm usually involving the deep soft tissue of the extremities, including trunk or limb girdles, and extensive surgical removal, along with adjuvant chemo- and radiotherapy, significantly prolongs survival. Nevertheless, prognosis remains poor, mainly due to frequent local recurrences and eventually distant metastases, usually within regional lymph nodes, lung, and bone. To the best of our knowledge, this is the first description of a sellar metastasis from CCS.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39660768","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

Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia. 教学病例 1-2020 - 增补：新型 CSF1R 基因突变导致的伴有轴突球和色素神经胶质的成人型白质脑病 - 痴呆症的不寻常病因。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301449

Sigrid Klotz, Franz Riederer, Nora Hergovich, Thomas Schlager, Lara Steinkellner, Elisabeth Fertl, Christoph Baumgartner, Matias Wagner, Alexander Zimprich, Ellen Gelpi

引用次数: 0

Ganglion cell maturation in peripheral neuroblastic tumours of children. 儿童周围神经母细胞肿瘤的神经节细胞成熟。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-05-01 DOI: 10.5414/NP301450

Harvey B Sarnat, Weiming Yu

{"title":"Ganglion cell maturation in peripheral neuroblastic tumours of children.","authors":"Harvey B Sarnat, Weiming Yu","doi":"10.5414/NP301450","DOIUrl":"https://doi.org/10.5414/NP301450","url":null,"abstract":"Peripheral neuroblastic tumours of neural crest origin are the most frequent solid neoplasms outside the CNS in children. Neuroblastoma/ganglioneuroblastoma/ganglioneuroma have a natural evolution of histological differentiation over time. Together with mitosis-karyorrhexis index and patient age (International Neuroblastoma Pathology Classification criteria), ganglion cell maturation determines grading and prognosis. Maturation presently is usually assessed only histologically. Immunocytochemical tissue markers defining neuroblast maturation in fetal CNS were here applied to peripheral neuroblastic tumours arising in the adrenal medulla or sympathetic chain. Paraffin sections of resected tumours of 4 toddlers were examined using antibodies demonstrating neuronal identity and maturation: MAP2; synaptophysin; chromogranin-A; NeuN; keratan sulfate (KS); glutamate receptor antibody (GluR2). Synaptophysin, normally a late marker of neuroblast differentiation, was the earliest expressed in neuroblastoma. Others include: Ki67; S-100β protein; vimentin; nestin; α-B-crystallin; neuroblastoma marker PHOX2B. Various degrees of ganglion cell maturation were demonstrated by MAP2, chromogranin, synaptophysin, KS, and GluR2; NeuN was uniformly negative, consistent with sympathetic neurons. KS was sparsely distributed within the tumours in interstitial tissue, within processes of some non-neuronal cells, and adherent to somata and proximal neuritic trunks. Neoplastic ganglion cells with multiple nuclei matured similar to mono-nuclear forms. PHOX2B did not distinguish maturational stages. S-100β protein and α-B-crystallin labeled Schwann cells, especially Schwannian ganglioneuroma. Immunocytochemical markers of neuroblast maturation in fetal brain also are useful in peripheral neuroblastic tumours, providing greater precision than histology alone. The most practical are MAP2, chromogranin-A, and synaptophysin. Prognosis and choice of treatment including chemotherapy might be influenced.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39610510","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: 2