Clinical Neuropathology最新文献_第8页

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":"41 3","pages":"122-127"},"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

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":"41 3","pages":"128-134"},"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

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":"41 3","pages":"101-113"},"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

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