Clinical Neuropathology最新文献_第8页

Clinical Neuropathology 3-2022. 临床神经病理学3-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-04-25 DOI: 10.5414/NPP41095

I. Fischer, J. Hainfellner

引用次数: 0

Obituary for Dr. Paul Kleihues (1936 - 2022). 保罗·克莱修斯博士(1936 - 2022)的讣告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-04-25 DOI: 10.5414/NP301486

H. Ohgaki, J. Hainfellner

引用次数: 0

Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2:c.784C>T p.(Arg262*) variant. 一名携带NF2:c.784C>T.p.（Arg262*）变体的2型马赛克神经纤维瘤病患者对贝伐单抗的持续反应。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-04-21 DOI: 10.5414/NP301464

Elena Basenach, Alisa Förster, P. Raab, Samer Alzein, Gunnar Schmidt, J. Krauss, B. Schlegelberger, F. Heidenreich, B. Auber, C. Hartmann, B. Wiese, R. Weber

{"title":"Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2:c.784C>T p.(Arg262*) variant.","authors":"Elena Basenach, Alisa Förster, P. Raab, Samer Alzein, Gunnar Schmidt, J. Krauss, B. Schlegelberger, F. Heidenreich, B. Auber, C. Hartmann, B. Wiese, R. Weber","doi":"10.5414/NP301464","DOIUrl":"https://doi.org/10.5414/NP301464","url":null,"abstract":"Neurofibromatosis type 2 (NF2) is a tumor predisposition syndrome characterized by the growth of schwannomas, especially bilateral vestibular schwannomas (VS), meningiomas, and ependymomas. The anti-VEGF antibody bevacizumab has shown efficacy for VS in some NF2 patients. However, there is limited data on the effect of bevacizumab on non-vestibular tumors, and on the correlation between therapy response and genotype. Here, we report on a 33-year-old patient with bilateral VS, 14 additional intracranial or spinal schwannomas, and a meningioma treated with bevacizumab, off-label in the European Union, for 2 years. The genotype of the patient was determined by mutational analysis of NF2, SMARCB1, and LZTR1 on DNA of multiple tissues. Additionally, we performed volumetric measurements of quantifiable non-vestibular tumors (n = 8) on MRI scans from 5 pre-therapeutic and 2 therapeutic years, and pure-tone audiometry of the non-deaf ear. A heterozygous NM_000268.3(NF2):c.784C>T p.(Arg262*) variant was identified in DNA from 3 schwannomas, but not in leukocyte or oral mucosa DNA, and no rare SMARCB1/LZTR1 variants were detected, establishing the diagnosis of definite NF2 mosaicism. While schwannomas had progressed with a mean annual growth rate of 38% pre-therapeutically, volume stabilization or reduction of all schwannomas along with improvement of pain and neurological deficits, including hearing impairment, were observed under 24 months of bevacizumab. In summary, this is the first report of a sustained response to bevacizumab in a patient shown to carry the frequent mosaic NF2:c.784C>T p.(Arg262*) variant. Our results may be of particular relevance to guide treatment decisions in mosaic NF2 patients harboring this variant.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49569661","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 of pituitary adenoma with infiltration into the sphenoid sinus accompanied by melanocyte proliferation. 垂体腺瘤浸润蝶窦并伴有黑素细胞增殖1例。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-04-21 DOI: 10.5414/NP301436

Toshiyuki Enomoto, M. Aoki, M. Takahara, Masani Nonaka, H. Abe, C. Inomoto, Tooru Inoue, K. Nabeshima

{"title":"A case of pituitary adenoma with infiltration into the sphenoid sinus accompanied by melanocyte proliferation.","authors":"Toshiyuki Enomoto, M. Aoki, M. Takahara, Masani Nonaka, H. Abe, C. Inomoto, Tooru Inoue, K. Nabeshima","doi":"10.5414/NP301436","DOIUrl":"https://doi.org/10.5414/NP301436","url":null,"abstract":"A 71-year-old woman presenting with headache and nausea was admitted to hospital. Magnetic resonance imaging revealed a tumorous lesion that surrounded the sella turcica and infiltrated the sphenoid sinus with bone destruction. The tumor was removed by nasal endoscopy. The histology was consistent with pituitary adenoma; immunohistochemistry indicated silent corticotroph adenoma with melanocyte proliferation. The possibility that melanocytes were incorporated into the tumor mass in the sphenoid sinus and underwent proliferation was evaluated by investigating the mechanisms of melanocyte proliferation associated with basic fibroblast growth factor (bFGF) and α melanocyte-stimulating hormone (αMSH). In the normal tissue, the pars intermedia and adrenocorticotropic hormone (ACTH)-producing cells were positive for αMSH. None of the control adenoma tissues were positive for bFGF or αMSH by immunostaining. In the present case, bFGF-positive cells and αMSHpositive cells were observed, suggesting that both may have been involved in melanocyte proliferation. The expression of bFGF has been linked to aggressive disease. Pituitary adenoma with melanocyte proliferation has not been previously reported. Careful follow-up is deemed necessary in the future.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48240247","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

Intracerebral retina-like pigmented tissue in a stillborn fetus with holoprosencephaly. 无前脑畸形死胎的脑内视网膜样色素组织。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-04-01 DOI: 10.5414/NP301453

Hao Li, Qi Zhang, L. Ang

引用次数: 0

Recurrent cerebellar liponeurocytoma with anaplastic features at initial presentation: A case report. 初次出现时具有间变性特征的复发性小脑脂肪神经细胞瘤：一例报告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-28 DOI: 10.5414/NP301403

M. Maharaj, S. Tawfik, F. Ziad, T. Muthu

{"title":"Recurrent cerebellar liponeurocytoma with anaplastic features at initial presentation: A case report.","authors":"M. Maharaj, S. Tawfik, F. Ziad, T. Muthu","doi":"10.5414/NP301403","DOIUrl":"https://doi.org/10.5414/NP301403","url":null,"abstract":"BACKGROUND\u0000Cerebellar liponeurocytoma is a rare entity with fewer than 100 reported cases and series in the available literature to date. Although the cerebellum remains the typical primary site, the entity has been shown to demonstrate increased aggressiveness and malignant progression with multiple recurrences.\u0000\u0000\u0000CASE DESCRIPTION\u0000We present a unique case in a 64-year-old gentleman of a cerebellar liponeurocytoma with multiple recurrences and progressive anaplasia. The tumor showed anaplastic features at first presentation and recurred in a more aggressive fashion in a short 2-year period despite surgical debulking and post-operative radiotherapy. It re-recurred within 6 months with subsequent re-debulking without further radiotherapy. At latest follow-up almost 3 years since surgical management of the patient's second recurrence, the patient remains well with minimal neurological impairment and no radiological signs of recurrence.\u0000\u0000\u0000CONCLUSION\u0000Cerebellar liponeurocytoma may present with increasingly atypical histological features that may warrant more aggressive post-operative treatment to prevent disease recurrence and clinical deterioration. This may include a more aggressive surgical resection margin and consideration of adjuvant radiotherapy in all cases.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46254024","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

Prolonged central motor conduction time and pyramidal tract degeneration in amyotrophic lateral sclerosis. 肌萎缩性侧索硬化症中枢性运动传导时间延长与锥体束变性。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-28 DOI: 10.5414/NP301438

T. Takeda, M. Iijima, M. Seki, Eiko Higuchi, Yuko Shimizu, N. Shibata, K. Kitagawa

{"title":"Prolonged central motor conduction time and pyramidal tract degeneration in amyotrophic lateral sclerosis.","authors":"T. Takeda, M. Iijima, M. Seki, Eiko Higuchi, Yuko Shimizu, N. Shibata, K. Kitagawa","doi":"10.5414/NP301438","DOIUrl":"https://doi.org/10.5414/NP301438","url":null,"abstract":"Electrophysiological methods to detect the degeneration of the upper motor neuron system have not been fully established in patients with amyotrophic lateral sclerosis (ALS). This may be partly because the parallel demonstration of electrophysiology and a corresponding pathological abnormality is insufficient, and because a substantial number of patients with ALS do not exhibit upper motor neuron degeneration. Recently, we encountered 2 patients with ALS who had been examined for abnormal central motor conduction time (CMCT) using transcranial magnetic stimulation within a 20-day period prior to their death. Autopsy revealed that 1 patient had marked pyramidal degeneration with prolonged CMCT; in contrast, the other patient had no obvious pyramidal degeneration and showed normal CMCT. Both the patients with contrasting clinicopathological differences contributed to the identification that the prolongation of CMCT was possibly linked to the degeneration of the corticospinal tract. This report indicates that CMCT is useful for predicting the severity of upper motor neuron degeneration in patients with ALS.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70972760","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

Histologically heterogeneous pediatric glioneuronal tumor with FGFR1::TACC1 fusion. FGFR1:：TACC1融合的组织学异质性儿童胶质神经元肿瘤。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-28 DOI: 10.5414/NP301461

F. Canan, Elena V Daoud, J. Weon, J. Raisanen, D. Burns, K. Hatanpaa, Jason Y. Park, S. Kelley, V. Rajaram

引用次数: 0

Cerebral amyloidomas: Perspective on unusual morphological features. 脑淀粉样瘤:异常形态学特征的透视。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301440

Bette K Kleinschmidt-DeMasters

{"title":"Cerebral amyloidomas: Perspective on unusual morphological features.","authors":"Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301440","DOIUrl":"https://doi.org/10.5414/NP301440","url":null,"abstract":"Aims: Cerebral amyloidomas (CAs) are mass-producing congophilic lesions most commonly due to λ light chain deposits, contrasting them with light chain deposition disease (LCDD) which has non-polarizable, often κ light chain deposition.Materials and methods: Although usual histological features are well known, we detail 3 recent CAs with unusual morphological findings and review the literature specifically for these features.Results: Two women, aged 56 and 58 years, had right cerebral white matter CAs. The biopsy of case 1 disclosed congophilic polarizable deposits with prominent dystrophic mineralization as well as scant plasma cells. Case 2 had a CA with significant multinucleated giant cell reaction to the amyloid and additionally contained an area suspicious for marginal zone B-cell lymphoma. Case 3 was a clinically unsuspected CA identified at autopsy in a 75-year-old woman that manifested as several contiguous left frontal lobe white matter erythematous, hyperemic lesions; microscopy showed nodular and concentric amyloid deposits and thick perivascular cuffs of plasma cells. Mass spectrometry proved λ light and α heavy chain amyloid deposits in all 3 cases.Conclusion: These 3 CA cases illustrate several unusual gross and microscopic features that are discussed in context with the literature.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39766178","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

Hypothyroidism combined with anti-signal recognition particle immune-mediated necrotizing myopathy: A case report and review of the literature. 甲状腺功能减退合并抗信号识别粒子免疫介导的坏死性肌病1例报告及文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301434

Jiaying Shi, Huaxing Meng, Wei Zhang, Junhong Guo

{"title":"Hypothyroidism combined with anti-signal recognition particle immune-mediated necrotizing myopathy: A case report and review of the literature.","authors":"Jiaying Shi, Huaxing Meng, Wei Zhang, Junhong Guo","doi":"10.5414/NP301434","DOIUrl":"https://doi.org/10.5414/NP301434","url":null,"abstract":"Immune-mediated necrotizing myopathy (IMNM) is characterized by proximal limb weakness, elevated creatine kinase (CK) levels, and myofiber necrosis without or with only a small amount of inflammatory cell infiltrate. There is only 1 report of hypothyroidism combined with antibody-negative IMNM to date. We aimed to describe a rare case of hypothyroidism combined with anti-signal recognition particle (SRP) IMNM for the first time and review the previous literature. A 50-year-old male, who had a 4-year history of hypothyroidism treated with levothyroxine replacement therapy, presented with progressive symmetrical proximal muscle weakness. Laboratory testing showed an elevated CK level of 6,106 U/L. Electrophysiological examination elicited carpal tunnel syndrome and myogenic damage. Muscle MRI revealed diffuse abnormal signals in both lower limbs. Given that muscle symptoms are widely recognized among hypothyroid patients, hypothyroid myopathy was initially suspected, and thyroid hormone tablets were added for a week. However, muscle weakness persisted along with an even higher CK (7,020 U/L). Quadriceps muscle biopsy was performed and indicated inflammatory myopathy. Myositis specific antibodies (MSAs) detection revealed that anti-SRP was positive. A diagnosis of hypothyroidism combined with anti-SRP IMNM was finally made. Treatment of corticosteroid and immunosuppressive agents achieved a positive clinical and biochemical response. This case indicates that hypothyroidism combined with anti-SRP IMNM is a rare clinical entity, possibly caused by a general immunologic dysregulation.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39686635","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