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A Posterior Fossa Mass in a 6-Year-Old 6岁儿童后颅窝肿块
Q4 PATHOLOGY Pub Date : 2020-03-01 DOI: 10.1097/PCR.0000000000000366
T. G. Baker, M. T. Smith
Abstract Medulloblastoma is a high-grade embryonal tumor of the central nervous system arising in the infratentorium of patients of all ages with a peak incidence in childhood. Within the last decade, advances in molecular profiling of gene expression and epigenetics have advanced general understanding of previously perceived intertumoral heterogeneity. Currently, 4 subtypes of medulloblastoma are recognized: wingless (WNT)–activated, sonic hedgehog (SHH)–activated, and the non-WNT/non-SHH group, which combines groups 3 and 4. The new subgroups, which continue to evolve, have greatly complicated the process of rendering a pathologic diagnosis through integration of histopathologic and molecular data. The criterion-standard techniques for identifying these subgroups include gene expression and methylation profiling; however, such complicated and expensive laboratory techniques may not be accessible to all laboratories. Although recommendations for the approach to an integrated diagnosis have been made, no specific algorithm has been put forth. We present a case of pediatric medulloblastoma in which hematoxylin-eosin–stained tissue sections, reticulin special stain, immunohistochemistry, cytogenetics, and next-generation sequencing were implemented for the purpose of identifying subgroup and other markers of prognosis, such as TP53 mutation and MYC family member amplification. The discussion herein is aimed at reviewing current opinions on the integration of histomorphologic and molecular subgroups of medulloblastoma and providing a foundation for designing a practical and clinically meaningful approach to diagnosis.
髓母细胞瘤是一种发生于所有年龄段幕下患者的中枢神经系统高级别胚胎性肿瘤,儿童期发病率最高。在过去的十年中,基因表达的分子谱和表观遗传学的进展已经提高了对以前认为的肿瘤间异质性的普遍理解。目前,髓母细胞瘤被识别为4种亚型:无翅(WNT)激活型、sonic hedgehog (SHH)激活型和non-WNT/non-SHH组,包括第3组和第4组。新的亚群,继续发展,极大地复杂的过程,呈现病理诊断通过组织病理和分子数据的整合。鉴定这些亚群的标准-标准技术包括基因表达和甲基化分析;然而,并非所有实验室都能使用这种复杂而昂贵的实验室技术。虽然已经提出了综合诊断方法的建议,但没有提出具体的算法。我们报告了一例小儿髓母细胞瘤,通过苏木精-伊红染色组织切片、网状蛋白特殊染色、免疫组织化学、细胞遗传学和下一代测序来确定亚群和其他预后标志物,如TP53突变和MYC家族成员扩增。本文旨在综述目前关于髓母细胞瘤的组织形态学和分子亚群整合的观点,为设计一种实用和有临床意义的诊断方法提供基础。
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引用次数: 0
Glial Tumors 神经胶质肿瘤
Q4 PATHOLOGY Pub Date : 2020-03-01 DOI: 10.1097/PCR.0000000000000364
C. Welsh
Abstract Glial tumors comprise the majority of primary intra-axial intracranial tumors. Since its introduction in 2016, the revised fourth edition of the World Health Organization (WHO) classification of central nervous system tumors has changed the diagnostic and therapeutic approach in glial tumors (WHO Classification of Tumours of the Central Nervous System [revised fourth edition]; Lyon, France: IARC; 2016). Diffuse gliomas (WHO grades II–IV) are now molecularly stratified based on isocitrate dehydrogenase 1 or 2 mutation status and classified according to 1p/19q codeletion status into astrocytic or oligodendroglial type. Updates now occur faster than new editions of the WHO classification can be prepared, so updates are being issued by way of journal articles from a Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (Brain Pathol 2019;29(4):469–472).
神经胶质肿瘤占原发性轴内颅内肿瘤的大多数。世界卫生组织(WHO)中枢神经系统肿瘤分类修订第四版自2016年推出以来,改变了神经胶质肿瘤的诊断和治疗方法(WHO中枢神经系统肿瘤分类[修订第四版];里昂,法国:国际癌症研究机构;2016)。弥漫性胶质瘤(WHO分级II-IV级)现在根据异柠檬酸脱氢酶1或2突变状态进行分子分层,并根据1p/19q编码状态分为星形细胞型或少突胶质型。现在更新的速度比世卫组织新版本的分类编制速度要快,因此更新是通过CNS肿瘤分类分子和实用方法通报联盟的期刊文章发布的(Brain Pathol 2019;29(4): 469-472)。
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引用次数: 2
High-Grade Gliomas in Early Adulthood: A Case-Based Review of Current Molecular Diagnostic Considerations 成年早期的高级别胶质瘤:当前分子诊断考虑的病例回顾
Q4 PATHOLOGY Pub Date : 2020-03-01 DOI: 10.1097/PCR.0000000000000371
Leyla Canbeldek, H. Ames
Abstract High-grade gliomas in early adulthood (between the ages of 20 and 40 years) have a wide differential diagnosis that includes entities from childhood and late adulthood. These gliomas are increasingly defined by their molecular signatures, requiring a molecular-based workup that is informed by morphology and anatomy. Here we present four cases with four different diagnoses, some rare and some common, presenting with new brain lesions. This diagnostic process is informed by the 2016 World Health Organization guidelines, c-IMPACT Now updates, and the clinico-pathologic features shown by these high-grade tumors. Particularly, we focus on practical diagnostic decisions that may need to be made with limited tissue and/or limited on-site molecular resources.
成年早期(年龄在20至40岁之间)的高级别胶质瘤具有广泛的鉴别诊断,包括儿童期和成年后期的实体。这些胶质瘤越来越多地由其分子特征来定义,需要基于形态学和解剖学的分子检查。在这里,我们提出四个病例,有四种不同的诊断,一些罕见的和一些常见的,表现为新的脑部病变。这一诊断过程是根据2016年世界卫生组织指南(c-IMPACT Now更新)和这些高级别肿瘤所显示的临床病理特征进行的。特别是,我们专注于可能需要在有限的组织和/或有限的现场分子资源下做出的实际诊断决策。
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引用次数: 0
A “Double-Hit” Translocation Sarcoma—First Report of the Co-occurrence of EWSR1-FLI1 and MTMR2-NTRK2 Fusion in a Small Round Blue Cell Sarcoma 一种“双击”易位肉瘤——EWSR1-FLI1和MTMR2-NTRK2融合在小圆形蓝细胞肉瘤中共同出现的首次报道
Q4 PATHOLOGY Pub Date : 2020-03-01 DOI: 10.1097/PCR.0000000000000369
A. Vargas, Caroline Kurek, F. Bonar, F. Maclean, M. Qiu, R. Boyle, R. Brookwell, A. Gill
Abstract We report a case of a 51-year-old man with primary diagnosis of Ewing sarcoma confined to the soft tissue, associated with EWSR1-FLI1 gene fusion demonstrated by fluorescence in situ hybridization (FISH). Six years after the diagnosis, immunohistochemistry for NTRK (neurotrophic receptor tyrosine kinase 1–3) was performed on this tumor using 2 Pan-Trk rabbit monoclonal antibodies, A7H6R (Cell Signaling Technology, Danvers, Mass) and EPR17341 (Abcam, Cambridge, Mass). Both clones showed diffuse moderate to strong cytoplasmic expression including presence of nuclear stain. RNA sequencing demonstrated the co-occurrence of MTMR2-NTRK2, a novel gene fusion, in the same tumor block used for EWSR1 FISH testing. While FISH for NRK2 did not confirm gene rearrangement, an atypical signal pattern was identified. This case challenges the concept that NTRK fusions are mutually exclusive with other oncogenic drivers. The clinical course of this patient has also been unusual as the tumor has followed an indolent course with no evidence of recurrent or metastatic disease.
摘要:我们报告一例51岁男性原发性尤文氏肉瘤局限于软组织,与荧光原位杂交(FISH)显示EWSR1-FLI1基因融合相关。诊断6年后,使用2种Pan-Trk兔单克隆抗体A7H6R(细胞信号传导技术,丹弗斯,马萨诸塞州)和EPR17341 (Abcam,剑桥,马萨诸塞州)对该肿瘤进行NTRK(神经营养受体酪氨酸激酶1-3)的免疫组化。两个克隆均表现为弥漫的、中等到强的细胞质表达,包括核染色。RNA测序显示,在用于EWSR1 FISH检测的同一肿瘤块中,MTMR2-NTRK2(一种新的基因融合)共同出现。虽然NRK2的FISH没有证实基因重排,但发现了一个非典型的信号模式。该病例挑战了NTRK融合与其他致癌驱动因素相互排斥的概念。该患者的临床病程也很不寻常,因为肿瘤呈惰性病程,无复发或转移性疾病的迹象。
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引用次数: 2
Pitfalls and Traps in Neuropathology 神经病理学中的陷阱和陷阱
Q4 PATHOLOGY Pub Date : 2020-03-01 DOI: 10.1097/PCR.0000000000000365
M. T. Smith, E. Bruner
Abstract Impediments to making a correct diagnosis are avoided, and complex administrative efforts are used to make those impediments less frequent. There are quality control procedures, patient safety initiatives, and endless meetings attempting to lessen medical errors. Pitfalls and traps are encountered daily by pathologists, and most are avoided. Artifacts produce traps created by cautery, physical crush, thick sections, and drying and are well known. Appropriate deferral, recuts, stains, and collegial consultations aid in error avoidance in these instances. Neuropathology has some pitfalls and traps that are encountered infrequently especially in the low neuropathology case load environment. Those traps are unfamiliar and treacherous for the unwary pathologist. This review describes five cases each with its special trap.
避免了做出正确诊断的障碍,并使用复杂的管理工作来减少这些障碍的发生。有质量控制程序,病人安全倡议,以及无数试图减少医疗错误的会议。病理学家每天都会遇到陷阱,但大多数都是可以避免的。人工制品通过烧灼、物理挤压、厚切片和干燥产生陷阱,这是众所周知的。在这些情况下,适当的延期、删节、污点和合议协商有助于避免错误。神经病理学有一些不常遇到的陷阱和陷阱,特别是在低神经病理学病例负荷环境中。那些陷阱对粗心的病理学家来说是陌生而危险的。本文介绍了五种情况,每种情况都有其特殊的陷阱。
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引用次数: 0
Sialadenitis of the Major Salivary Glands: A Tumor-Like Lesion of Various Etiologies and Morphological Appearances 大唾液腺涎腺炎:一种多种病因和形态表现的肿瘤样病变
Q4 PATHOLOGY Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000406
J. Hernandez-Prera
Abstract Inflammatory conditions of salivary glands—so-called sialadenitis—may clinically and histologically resemble a true neoplasm and result in a surgical resection. This review summarizes distinctive morphological patterns of inflammation that affect major salivary glands, and within this context, an unusual case of sialadenitis is also presented.
唾液腺的炎症条件-所谓的涎腺炎-可能在临床和组织学上类似于真正的肿瘤,并导致手术切除。这篇综述总结了影响主要唾液腺的炎症的独特形态模式,并在此背景下,也提出了一个不寻常的涎腺炎病例。
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引用次数: 1
A Guide to Differentiating Thrombotic Microangiopathies Through a Case of Catastrophic Antiphospholipid Syndrome 从一例灾难性抗磷脂综合征鉴别血栓性微血管病变指南
Q4 PATHOLOGY Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000417
N. Hardy, Kristen M. Stashek
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引用次数: 1
The Milan System for Reporting Salivary Gland Cytopathology 唾液腺细胞病理学报告米兰系统
Q4 PATHOLOGY Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000405
A. Zante, Patrick K. Ha, Marc P Pusztaszeri
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引用次数: 5
Cytologic and Histologic Aspects of High-Grade Transformation of Salivary Gland Carcinoma 唾液腺癌高级别转化的细胞学和组织学特征
Q4 PATHOLOGY Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000400
M. Nakaguro, W. Faquin, P. Sadow
Abstract High-grade transformation (HGT) is a process whereby low- to intermediate-grade carcinomas transform into high-grade, poorly differentiated, or undifferentiated carcinomas. In salivary gland tumor pathology, several terminologies, including dedifferentiation or hybrid tumor, have been adopted to describe tumors that do not fit into one distinct tumor type. As HGT confers a poor prognosis despite initial tumor type, the finding of HGT must be recognized for optimal patient management. Preoperative fine-needle aspiration biopsy is typically positive for malignancy, but the recognition of both low- and high-grade components is not always possible and, if only the latter present, may obscure the tumor subtype from which the HGT derives. Most HGTs occur in association with acinic cell carcinoma and adenoid cystic carcinoma, but have also been seen with epithelial-myoepithelial carcinoma, secretory carcinoma, and mucoepidermoid carcinoma.
高级别转化(High-grade transformation, HGT)是指中、低级别癌向高级别、低分化或未分化癌转变的过程。在唾液腺肿瘤病理学中,一些术语,包括去分化或杂交肿瘤,已经被用来描述不适合一种独特肿瘤类型的肿瘤。由于HGT与最初的肿瘤类型无关,预后较差,因此必须认识到HGT的发现,以便进行最佳的患者管理。术前细针穿刺活检通常对恶性肿瘤呈阳性,但对低级别和高级别成分的识别并不总是可能的,如果只有后者存在,可能会模糊HGT源自的肿瘤亚型。大多数hgt与腺泡细胞癌和腺样囊性癌有关,但也见于上皮-肌上皮癌、分泌性癌和黏液表皮样癌。
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引用次数: 2
Navigating the Differential Diagnosis for Oncocytic Salivary Gland Lesions (Cytology and Histology) 嗜瘤性唾液腺病变的鉴别诊断指南(细胞学和组织学)
Q4 PATHOLOGY Pub Date : 2020-01-01 DOI: 10.1097/PCR.0000000000000402
B. Centeno, B. Wenig
Abstract Oncocytic lesions of the parotid gland include nonneoplastic entities and benign and malignant neoplasms. The most common benign neoplasm is Warthin tumor, which can be correctly diagnosed using fine-needle aspiration (FNA) or core biopsy in most cases. However, accurate FNA and/or biopsy preoperative diagnosis of many entities in this category is limited by sampling and overlap in morphological features among the different entities. We report the case of a 77-year-old man who presented with a right parotid mass identified on magnetic resonance imaging and computed tomography scan that was cystic with necrosis and with possible papillary growth in the cyst. The FNA smears were scantly cellular, with a few representative groups with significant nuclear crowding and overlapping in a bloody background. The cells had oncocytic cytoplasm, an increased nuclear-to-cytoplasmic ratio, and round-to-oval nuclei with prominent nucleoli. Necrosis, mitoses, and significant nuclear pleomorphism were not identified. The findings were interpreted as consistent with an oncocytoid/oncocytic salivary gland neoplasm. The cell block was acellular, so the neoplasm could not be further characterized by ancillary studies. The patient underwent a right superficial parotidectomy. The histopathological diagnosis was oncocytic carcinoma primarily based on the identification of perineural invasion. Oncocytic carcinoma is a rare, high-grade malignancy of salivary glands. This case will be used to discuss the differential diagnosis of oncocytoid/oncocytic salivary gland lesions on both cytopathology and histopathology and provide a pragmatic approach to the diagnostic evaluation. Indications for available ancillary testing will also be reviewed.
腮腺嗜瘤性病变包括非肿瘤性实体和良恶性肿瘤。Warthin肿瘤是最常见的良性肿瘤,大多数情况下可以通过细针穿刺(FNA)或核心活检正确诊断。然而,准确的FNA和/或活检在这一类的许多实体的术前诊断是有限的采样和不同实体之间的形态特征重叠。我们报告一位77岁的男性,他在磁共振成像和计算机断层扫描中发现右侧腮腺肿块,囊肿性坏死,囊肿内可能有乳头状生长。FNA涂片几乎没有细胞,在血色背景中有几个具有代表性的细胞核拥挤和重叠的群体。胞质呈癌细胞状,核质比增大,细胞核圆至卵圆形,核仁突出。未发现坏死、有丝分裂和明显的核多形性。这些发现被解释为与嗜瘤细胞/嗜瘤细胞性唾液腺肿瘤一致。细胞块是非细胞的,因此不能通过辅助研究进一步表征肿瘤。患者行右侧腮腺浅表切除术。组织病理学诊断为嗜瘤细胞癌,主要基于神经周围浸润的识别。嗜酸细胞癌是一种罕见的涎腺恶性肿瘤。本病例将讨论嗜癌性/嗜癌性唾液腺病变在细胞病理学和组织病理学上的鉴别诊断,并为诊断评估提供实用的方法。可用辅助测试的适应症也将被审查。
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引用次数: 0
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