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Multi-omics analysis of intertumoral heterogeneity within medulloblastoma uncharted-pathway subtypes. 髓母细胞瘤未标记通路亚型肿瘤间异质性的多组学分析。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-07-01 Epub Date: 2021-06-28 DOI: 10.1007/s10014-021-00400-7
Zhicen Li, Yifan Wei, Yanqiu Shao, Lei Tang, Jian Gong

Medulloblastoma is a common pediatric malignant brain tumor. There were four consensus molecular subgroups (WNT, SHH, Group3 and Group4). Group 3 and Group 4 tumors exhibited a great degree of transcriptional overlap, and were neither derived from exact pathway aberration. We investigated transcriptional and chromatin accessibility of medulloblastoma by multi-omics single-cell analysis. Our work identified inter- and intra-tumoral heterogeneity within the Group 3, Group 4 and Group 3/4 intermediate subgroups. Unsupervised cluster of each tumor identified 9 cell clusters with transcriptional profiles and 6 cell clusters with chromatin accessibility profiles. OTX2 had the highest activity and expression level across the clusters in a special cluster based on open chromatin single-cell profilings. We identified multiple genes as a significant targeted gene within the OTX2 target genes, which made sense in prognosis. We analyzed the copy-number-variations which presented with expected subgroup distribution from transcriptional and chromatin accessibility profiles. Collectively, these data provide novel insights into Group 3 and Group 4 medulloblastoma and provide a potential therapeutic target.

髓母细胞瘤是一种常见的儿童恶性脑肿瘤。共有4个一致的分子亚群(WNT、SHH、Group3和Group4)。第3组和第4组肿瘤表现出很大程度的转录重叠,并且都不是来自确切的通路畸变。我们通过多组学单细胞分析研究了髓母细胞瘤的转录和染色质可及性。我们的工作确定了第3组、第4组和第3/4组中间亚组的肿瘤间和肿瘤内异质性。每个肿瘤的无监督簇鉴定出9个具有转录谱的细胞簇和6个具有染色质可及性谱的细胞簇。在基于开放染色质单细胞谱的特殊簇中,OTX2具有最高的活性和表达水平。我们在OTX2靶基因中发现了多个重要的靶基因,这对预后有意义。我们从转录和染色质可及性谱分析了呈现预期亚群分布的拷贝数变化。总的来说,这些数据为第3组和第4组髓母细胞瘤提供了新的见解,并提供了潜在的治疗靶点。
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引用次数: 2
A case of a rosette-forming glioneuronal tumor with clinicopathological features of a dysembryoplastic neuroepithelial tumor and fibroblast growth factor receptor 1 internal tandem duplication. 具有胚胎发育异常的神经上皮肿瘤和成纤维细胞生长因子受体1内部串联复制的临床病理特征的玫瑰花形胶质神经元肿瘤1例。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-07-01 Epub Date: 2021-04-09 DOI: 10.1007/s10014-021-00397-z
Taku Uchiyama, Akira Gomi, Sumihito Nobusawa, Noriyoshi Fukushima, Daisuke Matsubara, Kensuke Kawai

Rosette-forming glioneuronal tumors (RGNTs) are benign WHO grade 1 tumors that occur in the ventricular system, particularly the fourth ventricle. RGNTs and dysembryoplastic neuroepithelial tumors (DNTs) are both categorized as neuronal and mixed neuronal-glial tumors and may be difficult to distinguish. Coexistence of the two tumor types has been reported. Here, we report a pediatric case of RGNT with DNT-like features showing intraventricular dissemination. The tumor occurred in the medial temporal lobe and presented with specific pathological glioneuronal elements including floating neurons, which are typical in DNTs, but was diagnosed as RGNT because of the presence of neurocytic rosettes. Genetic analysis detected fibroblast growth factor receptor 1 internal tandem duplication (FGFR1-ITD) of the tyrosine kinase domain, which was previously reported to be specific for DNT. RGNTs with FGFR1-ITD may show atypical clinical presentation and pathological features.

玫瑰花状胶质神经元肿瘤(rgnt)是发生在脑室系统,特别是第四脑室的良性WHO 1级肿瘤。rgnt和胚胎发育异常神经上皮肿瘤(DNTs)都被归类为神经元和混合神经元-胶质肿瘤,可能难以区分。两种肿瘤类型共存已有报道。在这里,我们报告一个儿童RGNT病例,具有dnt样特征,显示脑室内播散。肿瘤发生在内侧颞叶,表现为特定的病理胶质神经元成分,包括浮动神经元,这是dnt的典型特征,但由于存在神经细胞玫瑰花结而被诊断为RGNT。遗传分析检测到酪氨酸激酶结构域的成纤维细胞生长因子受体1内部串联重复(FGFR1-ITD),这是以前报道的DNT特异性。伴有FGFR1-ITD的rgnt可能表现出不典型的临床表现和病理特征。
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引用次数: 3
Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence. 晚期复发伴MN1改变的星形母细胞瘤的独特病理表现。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-07-01 Epub Date: 2021-04-28 DOI: 10.1007/s10014-021-00401-6
Masaki Ujihara, Kazuhiko Mishima, Atsushi Sasaki, Jun-Ichi Adach, Mitsuaki Shirahata, Tomonari Suzuki, Sumihito Nobusawa, Ryo Nishikawa

Astroblastoma is an extremely rare brain tumor that has recently attracted attention owing to its association with MN1 gene alteration. However, its long-term clinical course remains unclear. We report a late recurrence of MN1-altered astroblastoma with unique pathological findings. A 24-year-old woman presented with seizures due to a left frontal lobe tumor. Gross total resection (GTR) was achieved, and the diagnosis was MN1-altered astroblastoma, which presented cell wrapping, i.e., presence of tumor cells enveloping one another. She received local radiotherapy (50 Gy). However, the tumor recurred after 12 years, and its size increased rapidly. The second surgery achieved GTR and confirmed increasing anaplasia. The patient was tumor-free for 1 year without any neurological deficits. This case implies the importance of long-term follow-up of MN1-altered astroblastoma. The pathological significance of cell wrapping in this case is unclear, but it may be associated with MN1-altered astroblastoma and should be noted in future cases.

星形母细胞瘤是一种极其罕见的脑肿瘤,由于其与MN1基因改变有关,最近引起了人们的关注。然而,其长期临床病程尚不清楚。我们报告一例晚期复发的mn1改变的星形母细胞瘤,具有独特的病理表现。一名24岁女性因左额叶肿瘤而癫痫发作。经大体全切除(GTR),诊断为mn1改变的星形母细胞瘤,表现为细胞包裹,即肿瘤细胞相互包裹。局部放疗(50 Gy)。然而,12年后肿瘤复发,体积迅速增大。第二次手术达到了GTR,并证实了间变性增加。患者无肿瘤1年,无任何神经功能缺损。本病例提示长期随访mn1改变星形母细胞瘤的重要性。本例中细胞包裹的病理意义尚不清楚,但它可能与mn1改变的星形母细胞瘤有关,在未来的病例中应予以注意。
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引用次数: 3
Preface. 前言。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-07-01 DOI: 10.1007/s10014-021-00413-2
Akira Matsuno
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引用次数: 0
Molecular, functional, and histopathological classification of the pituitary neuroendocrine neoplasms. 垂体神经内分泌肿瘤的分子、功能和组织病理学分类。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-07-01 Epub Date: 2021-07-16 DOI: 10.1007/s10014-021-00410-5
Chie Inomoto, Shigeyuki Tahara, Kenichi Oyama, Midori Kimura, Akira Matsuno, Akira Teramoto, Robert Y Osamura

In 2017, WHO published an updated classification of the pituitary adenomas according to the lineages defined by the transcription factors, PIT1, SF1 and TPIT. Nomenclature of the pituitary tumors follows the mature cell types such as somatotroph (GH), lactotroph (LH), thyrotroph, corticotroph, and gonadotroph (FSH, LH). Null cell adenomas are defined by the absence of expression of any hormones and transcription factors. Not infrequently, the pituitary adenomas are invasive to the adjacent structures and are designated as aggressive adenomas. Knosp grading is often used to define the aggressiveness of the tumor. Sparsely granulated somatotroph adenomas and Crooke cell corticotroph adenomas are representative aggressive adenomas. Recently, genomics regarding various adenomas have been clarified, such as GNAS for somatotrophs and USP8 for corticotrophs. Familial pituitary adenomas are another aspect which has been clarified such as MEN1, Carney's complex, familial isolated pituitary adenoma and McCune-Albright syndrome. The pituitary adenomas often produce GH or PRL, hormones of PIT1 transcription factor. It has been agreed that the pituitary adenomas share the characteristics of neuroendocrine neoplasms. The terminology of pituitary neuroendocrine tumor has been discussed. This review article covers various aspects of pituitary adenomas.

2017年,世卫组织根据转录因子PIT1、SF1和TPIT定义的谱系发布了垂体腺瘤的最新分类。垂体肿瘤的命名遵循成熟细胞类型,如生长激素(GH)、乳营养激素(LH)、甲状腺营养激素、促皮质激素和促性腺激素(FSH, LH)。空细胞腺瘤的定义是缺乏任何激素和转录因子的表达。通常,垂体腺瘤对邻近结构具有侵袭性,被认为是侵袭性腺瘤。Knosp分级常用于确定肿瘤的侵袭性。稀粒性生长营养腺瘤和克鲁克细胞性皮质营养腺瘤是典型的侵袭性腺瘤。近年来,各种腺瘤的基因组学研究得到了明确,如GNAS与生长因子有关,USP8与促皮质因子有关。家族性垂体腺瘤是已明确的另一个方面,如MEN1、卡尼综合征、家族性孤立性垂体腺瘤和McCune-Albright综合征。垂体腺瘤常产生PIT1转录因子激素GH或PRL。人们一致认为垂体腺瘤具有神经内分泌肿瘤的特征。讨论了垂体神经内分泌肿瘤的术语。这篇综述文章涵盖了垂体腺瘤的各个方面。
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引用次数: 5
Correction to: EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations. 更正:EZH2抑制蛋白(EZHIP/ xorf67)表达与后窝室管膜瘤中H3K27me3缺失密切相关,并且与H3K27M突变相互排斥。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-04-01 DOI: 10.1007/s10014-020-00393-9
Aruna Nambirajan, Agrima Sharma, Madhu Rajeshwari, Meher Tej Boorgula, Ramesh Doddamani, Ajay Garg, Vaishali Suri, Chitra Sarkar, Mehar Chand Sharma
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引用次数: 1
Prognostic significance of brain invasion in meningiomas: systematic review and meta-analysis. 脑膜瘤脑侵犯的预后意义:系统回顾和荟萃分析。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-04-01 Epub Date: 2021-01-06 DOI: 10.1007/s10014-020-00390-y
Satoshi Nakasu, Yoko Nakasu

The WHO 2016 classification introduced brain invasion as a standalone criterion for grade II meningioma (GIIM). We systematically reviewed studies published after 2000 and performed a PRISMA-compliant meta-analysis of the hazard ratios (HRs) for progression-free survival (PFS) between brain-invasive and noninvasive meningiomas. In five studies that included both benign and higher-grade meningiomas, brain invasion was a significant risk factor for recurrence (HR = 2.45, p = 0.0004). However, in 3 studies comparing "brain-invasive meningioma with otherwise benign histology (BIOB)" with grade I meningioma, brain invasion was not a significant predictor of PFS (HR = 1.49, p = 0.23). Among GIIM per the WHO 2000 criteria, brain invasion was a significant predictor of shorter PFS than noninvasive GIIM (HR = 3.40, p = 0.001) but not per the WHO 2016 criteria (HR 1.13, p = 0.54), as the latter includes BIOB. Meta-regression analysis of seven studies of grade II meningioma showed that more frequent BIOB was associated with lower HRs (p < 0.0001). Hence, there is no rationale for brain invasion as a standalone criterion for grade II meningioma, although almost all studies were retrospective and exhibited highly heterogeneous HRs due to differences in brain-tumor interface data availability.

世卫组织2016年的分类将脑侵犯作为II级脑膜瘤(GIIM)的独立标准。我们系统地回顾了2000年以后发表的研究,并对脑浸润性和非浸润性脑膜瘤的无进展生存(PFS)的风险比(hr)进行了符合prisma标准的荟萃分析。在包括良性和高级别脑膜瘤的5项研究中,脑浸润是复发的重要危险因素(HR = 2.45, p = 0.0004)。然而,在3项比较“具有其他良性组织学的脑浸润性脑膜瘤(BIOB)”与一级脑膜瘤的研究中,脑浸润并不是PFS的显著预测因子(HR = 1.49, p = 0.23)。在WHO 2000标准的GIIM中,脑侵犯是比无创GIIM更短PFS的显著预测因子(HR = 3.40, p = 0.001),但不是WHO 2016标准的预测因子(HR 1.13, p = 0.54),因为后者包括BIOB。7项II级脑膜瘤研究的荟萃回归分析显示,更频繁的BIOB与较低的hr相关
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引用次数: 17
Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma. 具有横纹肌样特征的颅内血管瘤样纤维组织细胞瘤:类似横纹肌样脑膜瘤。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-04-01 Epub Date: 2021-01-12 DOI: 10.1007/s10014-020-00389-5
M Adelita Vizcaino, Caterina Giannini, Howard T Chang, Benjamin R Kipp, Karen Fritchie, Rachael Vaubel

Angiomatoid fibrous histiocytoma (AFH) is an uncommon soft-tissue neoplasm that arises mostly in the extremities of young people and generally carries a good prognosis. Intracranial location is unusual and frequently associated with myxoid change. EWSR1 gene fusions with members of the CREB family (CREB1, ATF1, and CREM) are well-established events in AFH. These fusions have also been described in other neoplasms including intracranial myxoid mesenchymal tumor, and it is still uncertain whether the latter is a distinct entity or if it represents a myxoid variant of AFH. Here, we describe a rare falcine AFH presenting in a 50-year-old woman. The most striking feature of this tumor was its diffuse rhabdoid morphology with focal high mitotic activity, raising the consideration of rhabdoid meningioma (WHO grade III). The tumor cells were moderately positive for EMA and negative for progesterone receptor and SSTR2 prompting additional studies. Desmin was strongly positive and CD99 showed membranous immunoreactivity. BAP1, INI-1, and BRG1 expressions were retained. Next-generation sequencing analysis demonstrated an EWSR1-ATF1 gene fusion, supporting the diagnosis of an unusual rhabdoid variant of AFH. After gross total resection of this tumor, the patient remains free of disease 5 months after the surgery without additional treatment.

血管瘤样纤维组织细胞瘤(AFH)是一种罕见的软组织肿瘤,主要发生在年轻人的四肢,通常具有良好的预后。颅内位置不常见,常伴有黏液样改变。EWSR1基因与CREB家族成员(CREB1、ATF1和CREM)的融合在AFH中是公认的事件。这些融合在其他肿瘤包括颅内黏液样间充质肿瘤中也有描述,但仍不确定后者是一个独特的实体,还是代表AFH的黏液样变体。在这里,我们描述一个罕见的恶性AFH呈现在一个50岁的妇女。该肿瘤最显著的特征是其弥漫性横纹肌样形态,局灶性有丝分裂活性高,引起了横纹肌样脑膜瘤的考虑(WHO分级III)。肿瘤细胞EMA中度阳性,孕激素受体和SSTR2阴性,促使进一步的研究。Desmin呈强阳性,CD99呈膜性免疫反应。BAP1、ni -1、BRG1表达不变。新一代测序分析显示EWSR1-ATF1基因融合,支持AFH异常横纹肌样变异的诊断。在肿瘤全部切除后,患者在手术后5个月无疾病,无需额外治疗。
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引用次数: 7
Aberrant expression of thyroid transcription factor-1 in meningeal solitary fibrous tumor/hemangiopericytoma. 甲状腺转录因子-1在脑膜孤立性纤维瘤/血管外皮细胞瘤中的异常表达。
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-04-01 Epub Date: 2021-03-05 DOI: 10.1007/s10014-021-00395-1
Haibo Wu, Jun Du, Heng Li, Yujie Li, Wanqiu Zhang, Wenchao Zhou, Wei Wang

Meningeal solitary fibrous tumor (SFT) and hemangiopericytoma (HPC) were categorized as the same entity in the World Health Organization (WHO) 2016 classification of tumors of the central nervous system (CNS). Although NAB2-STAT6 fusion protein can be used to distinguish most of SFT/HPC from the other sarcomas, additional biomarkers were requested to separate meningeal SFT/HPC from meningioma and the molecular pathological difference between meningeal SFT/HPC and extra-CNS SFT/HPC still remains unclear. In this study, we evaluated the expression of TTF-1 in 67 meningeal SFT/HPC, 62 extra-CNS SFT/HPC and 201 meningiomas samples with immunohistochemistry (IHC) assays. The results showed that TTF-1 was detected in 23 of 67 (34.3%) meningeal SFT/HPC, 3 retroperitoneum SFT/HPC and none of meningiomas. Meanwhile, the copy number variation and mRNA expression of TTF-1 were measured by real-time quantitative PCR (qPCR) in meningeal SFT/HPC. These results demonstrated that TTF-1 protein expression level was significantly correlated with its transcription level, but independently related to the gene copy number variant. In conclusion, our study suggested that a large proportion of meningeal SFT/HPC was positive to TTF-1, while very few extra CNS SFT/HPC cases and no meningiomas were stained. So TTF-1 has value as an auxiliary diagnostic marker for meningeal SFT/HPC.

脑膜孤立性纤维瘤(SFT)与血管外皮细胞瘤(HPC)在世界卫生组织(WHO) 2016年中枢神经系统(CNS)肿瘤分类中被归为同一实体。虽然NAB2-STAT6融合蛋白可用于区分大多数SFT/HPC与其他肉瘤,但需要额外的生物标志物来区分脑膜SFT/HPC与脑膜瘤,脑膜SFT/HPC与外中枢神经系统SFT/HPC的分子病理差异尚不清楚。在这项研究中,我们用免疫组化(IHC)方法评估了TTF-1在67例脑膜SFT/HPC、62例外中枢神经系统SFT/HPC和201例脑膜瘤样本中的表达。结果显示,67例脑膜SFT/HPC中有23例(34.3%)检测到TTF-1,腹膜后SFT/HPC中有3例检测到TTF-1,脑膜瘤中无检测到TTF-1。同时采用实时荧光定量PCR (real-time quantitative PCR, qPCR)检测脑膜SFT/HPC中TTF-1基因拷贝数变化及mRNA表达。这些结果表明,TTF-1蛋白表达水平与其转录水平显著相关,但与基因拷贝数变异独立相关。综上所述,我们的研究提示很大一部分脑膜SFT/HPC呈TTF-1阳性,而很少有额外的中枢神经系统SFT/HPC病例和脑膜瘤未被染色。因此TTF-1作为脑膜SFT/HPC的辅助诊断指标具有一定的价值。
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引用次数: 0
Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review. 小儿脊髓星形细胞瘤并发KIAA1549-BRAF融合和IDH突变1例报告并文献复习
IF 3.3 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2021-04-01 Epub Date: 2021-02-28 DOI: 10.1007/s10014-021-00394-2
Mengxue Sun, Leiming Wang, Dehong Lu, Zhilian Zhao, Lianghong Teng, Weimin Wang, Yueshan Piao

Primary tumors of the spinal cord are rare, accounting for 3-6% of tumors in the central nervous system, particularly in children. KIAA1549-BRAF fusion is more common in pilocytic astrocytoma (PA) and IDH1 R132H mutation is rare in infratentorial tumors. Here, we report a 10-year-old male patient who presented with weakness in lower limbs that progressed to difficulty walking. Magnetic resonance imaging (MRI) revealed an intramedullary solid-cystic lesion from the medulla oblongata to the thoracic spin 4 level, with the expansion of the spinal cord. The lesion exhibited patchy enhancement at C4-T1, indicating a tentative diagnosis of astrocytoma. The patient underwent resection of the lesion in the spinal canal from the cervical 6 level to the thoracic 2 level. Histopathology confirmed diagnosis of astrocytoma, WHO grade 2. Genetic analysis showed both IDH1 R132H mutation and KIAA1549-BRAF fusion. Therefore, our integrated diagnosis was astrocytoma, IDH mutation, WHO grade 2. Its molecular analyses include IDH1 R132H mutation and KIAA1549-BRAF fusion. After the operation, the patient did not receive chemo- or radiotherapy, and underwent an aggressive rehabilitation regiment. Follow up 10 months later, symptoms improved. To our best knowledge, this is the first case of concomitant IDH mutation and BRAF fusion in pediatric spinal cord astrocytoma.

脊髓的原发性肿瘤是罕见的,占中枢神经系统肿瘤的3-6%,特别是在儿童中。KIAA1549-BRAF融合在毛细胞星形细胞瘤(PA)中更为常见,而IDH1 R132H突变在幕下肿瘤中罕见。在这里,我们报告了一位10岁的男性患者,他表现为下肢无力,并发展为行走困难。磁共振成像(MRI)显示髓内实性囊性病变,从延髓到胸椎旋4段,伴脊髓扩张。病灶C4-T1呈斑片状强化,初步诊断为星形细胞瘤。患者接受了从颈段至胸段椎管病变切除手术。组织病理学确诊为星形细胞瘤,WHO 2级。遗传分析显示IDH1 R132H突变和KIAA1549-BRAF融合。因此,我们的综合诊断为星形细胞瘤,IDH突变,WHO分级2级。其分子分析包括IDH1 R132H突变和KIAA1549-BRAF融合。手术后,患者没有接受化疗或放疗,并接受了积极的康复治疗。随访10个月后,症状有所改善。据我们所知,这是儿童脊髓星形细胞瘤中IDH突变和BRAF融合的第一例。
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引用次数: 2
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Brain Tumor Pathology
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