Clinical Neuropathology最新文献

英文中文

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 Q4 CLINICAL NEUROLOGY

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

OBJECTIVESpinocerebellar 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.MATERIALS AND METHODSThe 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.RESULTSWhole 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.CONCLUSIONWe 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.

目的:脑小脑共济失调伴轴突神经病3型(SCAN3)是一种非常罕见的常染色体隐性遗传病。编码细胞色素c氧化酶组装因子7的COA7基因突变最近被报道为SCAN3的致病基因。到目前为止，仅记录了5例COA7突变的SCAN3患者。在此，我们报告了一例中国SCAN3患者的临床、电生理、组织学和遗传学结果。材料与方法患者为31岁女性，表现为早发性周围神经病变和进行性共济失调。询问病史，进行电生理检查、神经和肌肉活检、基因检测。结果新一代全外显子组测序鉴定出一种新的COA7复合杂合突变(c.17A>G . d6g;c.554G>A, p.W185*)。磁共振成像显示小脑和脊髓萎缩。神经传导检查和腓肠神经活检显示感觉运动轴索神经病变。肌肉活检显示线粒体异常。皮肤成纤维细胞呼吸链酶测定显示呼吸链复合物活性正常。此外，还总结了PubMed中先前报道的具有确定遗传原因的SCAN患者的临床数据。与SCAN1和SCAN2患者相比，SCAN3患者发病年龄更早，认知功能障碍更小，无眼部体征。结论:我们报道了中国首例被诊断为SCAN3的患者。COA7基因(c.554G>A, p.W185*)的新突变扩大了该疾病的遗传谱。

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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 Q4 CLINICAL NEUROLOGY

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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

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

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.

脑膜瘤是最常见的原发性颅内肿瘤，其中不典型脑膜瘤约占20%。NF2的缺失已被证明是脑膜瘤发展的第一步;然而，非nf2基因改变的作用尚不清楚。在这里，我们报告一例非典型脑膜瘤与NF2剪接供体突变和四次复发。使用定制的NGS面板，发现了进一步复杂的异质分子改变。首先，初始肿瘤的一个亚克隆显示了一个额外的PIK3CA变异，很可能与致病无关。然后，第一次和第二次复发不再含有PIK3CA变异，没有发现肿瘤异质性。然而，驱动肿瘤的NF2突变持续存在。最新的第三次复发显示出显著的遗传异质性，有多个额外的非nf2变异和一个致病的PIK3CA突变。详细地说，一个亚克隆显示了SUFU和两个SMARCE1变体。相比之下，另一个地理上独立的肿瘤亚克隆在SMO、PIK3CA和SUFU中显示出几种不同的非nf2变异。最重要的是，在激酶结构域(L1006F)中新获得的PIK3CA改变之一可能是一个额外的肿瘤驱动突变，它激活PI3K-AKT-mTOR途径。报道的脑膜瘤的遗传异质性仅在少数研究中得到解决。虽然在我们的病例中检测到的一些变异预计会产生生化后果，但当考虑到改变的蛋白质在致瘤途径中的作用时，这些后果通常不太可能促进肿瘤的发展。然而，在第三次复发的亚克隆中出现单个致癌错义突变可能表明克隆向增强侵袭性转变。综上所述，我们的病例支持进行深入研究以阐明非nf2突变在脑膜瘤生长和发展中的作用的必要性。

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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 Q4 CLINICAL NEUROLOGY

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

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.

本病例报告涉及一名患有侵袭性垂体瘤的31岁男性，最初表现为双颞侧偏盲和泌乳素轻度升高。在大脑的磁共振成像中，有一个鞍区肿块，鞍旁侵犯颈内动脉的外侧，压迫视交叉。在组织病理学分析中，诊断为致密颗粒的乳营养垂体瘤，Ki67增殖率为15%，有丝分裂计数为6/10高倍视野，p53阳性。基于这些特征，根据Trouillas分类，该肿瘤被归类为2b级肿瘤，预计肿瘤会有更具侵袭性的行为。为了预测未来对替代药物治疗的需求，进行了以下分析：MGMT甲基化（存在）以及雌激素受体（阴性）、程序性死亡配体1（60-70%阳性肿瘤细胞）、血管内皮生长因子-a和生长抑素受体2（均为阳性）的表达。残余肿瘤组织再生，迄今为止的治疗包括重复手术、卡麦角林、帕西核苷酸和放射治疗。由于同时进行不孕不育治疗，替莫唑胺的化疗尚未开始。这种情况是独特的，因为肿瘤在形态和行为方面都表现出非典型特征。它还说明了病理学家如何在确定诊断、预后和靶向治疗的可能性方面发挥重要作用。

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引用次数: 0

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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

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

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.

转移到鞍区和垂体是罕见的，通常发生在晚期癌症，通常是乳腺癌和肺腺癌。从肉瘤转移到脑垂体是极为罕见的。在此，我们报告一位52岁的男性，在42岁时接受了膝关节透明细胞肉瘤(CCS)的手术和放疗。9年后，患者接受了2个明显的转移性肺结节切除术。随访期间，患者出现持续性头痛和尿崩症。MRI显示鞍和鞍上病变，经内镜蝶窦入路切除。组织病理学与CSS转移一致。在2年的随访中，没有证据表明鞍区局部复发，而记录了单一的脑转移，以及椎旁和骨盆肌肉的其他沉积物。CCS是一种罕见的侵袭性肿瘤，通常累及四肢深部软组织，包括躯干或肢带，广泛的手术切除，加上辅助化疗和放疗，可显著延长生存期。然而，预后仍然很差，主要是由于频繁的局部复发和最终的远处转移，通常在区域淋巴结、肺和骨内。据我们所知，这是第一例关于肿瘤转移的病例。

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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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

Linlin Wu, Jianduo An, Honggang Liu

Although angiogenesis plays an important role in tumor growth and invasion, its role in the progression of olfactory neuroblastoma (ONB) has rarely been published. The aim of the present research was to analyze the prognostic role of microvessel density (MVD) in ONB and its association with clinicopathological parameters. 70 ONB cases were assessed for immunohistochemical expression of CD31, CD34, CD105, VEGF, and VEGFR2. The expression of CD105-MVD was negatively associated with histological grade and tumor Kadish stage, and its expression was positively correlated with the expression of VEGF/VEGFR2. Low expression of CD105-MVD and high tumor histological grade were strongly associated with poor survival. Thus, CD105-MVD was demonstrated to be a valuable independent prognostic indicator for ONB. MVD is expected to be useful as an important marker to distinguish tumor histological grade.

尽管血管生成在肿瘤生长和侵袭中起着重要作用，但其在嗅觉神经母细胞瘤(ONB)进展中的作用却很少被报道。本研究的目的是分析微血管密度(MVD)在ONB中的预后作用及其与临床病理参数的关系。对70例ONB患者进行CD31、CD34、CD105、VEGF和VEGFR2的免疫组化表达检测。CD105-MVD的表达与组织学分级、肿瘤Kadish分期呈负相关，与VEGF/VEGFR2的表达呈正相关。低表达的CD105-MVD和高肿瘤组织学分级与低生存率密切相关。因此，CD105-MVD被证明是一个有价值的ONB独立预后指标。MVD有望成为区分肿瘤组织学分级的重要指标。

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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

Antonio Mastroianni, Maria Vittoria Mauro

Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome (PTS), is a distinct idiopathic immune-mediated neuritis of the brachial plexus, characterized by sudden attacks of severe neuropathic pain usually in the shoulder and/or arm, followed by progressive neurologic deficits, including weakness, atrophy, and occasionally sensory abnormalities. Pathogenesis is assumed to be multifactorial, and several observations support the hypothesis of an immune-triggering event preceding PTS, most frequently infections. A literature review reveals a variety of clinical presentations and courses. Various microorganisms preceding PTS have been documented. The authors report a case of PTS related to cytomegalovirus infection with a review of the relevant literature. Special emphasis is placed on the most important infectious agents considered in the etiological list of PTS.

神经痛性肌萎缩症(NA)，也称为帕森纳-特纳综合征(PTS)，是一种独特的特发性免疫介导的臂丛神经炎，其特征是通常发生在肩部和/或手臂的严重神经性疼痛的突然发作，随后是进行性神经功能缺损，包括无力、萎缩和偶尔的感觉异常。发病机制被认为是多因素的，一些观察结果支持在PTS之前免疫触发事件的假设，最常见的是感染。文献回顾揭示了各种临床表现和课程。PTS之前的各种微生物已被记录在案。作者报告一例与巨细胞病毒感染相关的PTS，并复习相关文献。特别强调的是在PTS的病因学列表中考虑的最重要的感染因子。

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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

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

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.

沃内金克连合综合征在临床上极为罕见。先前有报道称这种情况与中脑梗死、中脑出血、脱髓鞘性假瘤和视神经脊髓炎谱系病有关，但与桥本脑病无关。在此，我们报告一个44岁的高血压男子谁发展小脑共济失调，核间眼麻痹，和认知能力下降。脑磁共振成像(MRI)显示涉及Wernekinck连接的脑干损伤。最初，该患者在另一家医院被诊断为急性中脑梗死。然而，在给予抗血小板聚集药物、他汀类药物和自由基清除治疗后，他的症状没有改善。复查头颅MRI发现左顶叶异常信号。经过一系列排除脑梗塞和神经退行性疾病的检查，桥本脑病最终被诊断出来。经甲泼尼龙和γ-球蛋白治疗后，患者症状明显改善。据我们所知，在桥本脑病的临床表现中没有其他关于Wernekinck连接综合征发病的报道。

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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 Q4 CLINICAL NEUROLOGY

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 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology

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

Harvey B Sarnat, Weiming Yu

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.

神经嵴起源的周围神经母细胞肿瘤是儿童中神经系统外最常见的实体肿瘤。神经母细胞瘤/神经节神经母细胞瘤/神经节神经瘤随着时间的推移具有组织学分化的自然进化。与有丝分裂-核裂指数和患者年龄(国际神经母细胞瘤病理分类标准)一起，神经节细胞成熟度决定了分级和预后。目前的成熟度通常仅用组织学来评估。定义胎儿中枢神经系统神经母细胞成熟的免疫细胞化学组织标记物被应用于肾上腺髓质或交感神经链中产生的周围神经母细胞肿瘤。4例幼儿切除肿瘤的石蜡切片使用显示神经元身份和成熟的抗体进行检查:MAP2;synaptophysin;chromogranin-A;NeuN;硫酸角蛋白(KS);谷氨酸受体抗体(GluR2)。突触素，通常是神经母细胞分化的晚期标志，在神经母细胞瘤中最早表达。其他包括:Ki67;s - 100β蛋白;波形蛋白;巢蛋白;α-B-crystallin;神经母细胞瘤标志物PHOX2B。MAP2、嗜铬粒蛋白、突触素、KS和GluR2显示了不同程度的神经节细胞成熟;NeuN均为阴性，与交感神经元一致。KS稀疏分布于肿瘤间质组织内、部分非神经元细胞突内、附着于躯体和近端神经鞘干上。具有多核的肿瘤神经节细胞成熟时类似于单核细胞。PHOX2B不区分成熟阶段。S-100β蛋白和α- b -晶体蛋白标记的雪旺细胞，尤其是雪旺神经节神经瘤。胎儿脑神经母细胞成熟的免疫细胞化学标记物在周围神经母细胞肿瘤中也很有用，提供比单独组织学更高的准确性。最实用的是MAP2、嗜铬粒蛋白a和突触素。预后和包括化疗在内的治疗选择可能会受到影响。

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引用次数: 2

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