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CIC-rearranged sarcoma presenting with superior vena cava syndrome: case report. 以上腔静脉综合征为表现的cic重排肉瘤1例。
IF 3.5 Pub Date : 2023-04-01 DOI: 10.32074/1591-951X-784
Andrea Ascione, Giovanni Martino, Francesco Di Donato, Beatrice Casini, Renato Covello, Stefano Ascani

CIC-rearranged sarcomas are rare mesenchymal neoplasms belonging to the family of undifferentiated small round cell sarcomas. This report details the case of a 45-year-old man presenting with symptoms of mediastinal compression, radiological diagnosis of a mediastinal mass and rapid evolution to full-blown superior vena cava syndrome. The emergency was successfully managed with a pharmacological approach. Formulation of a pathological diagnosis of CIC-rearranged sarcoma was initially supported by fluorescence in situ hybridisation findings and later validated by next-generation sequencing, which showed CIC-DUX4 gene fusion. A chemotherapy regimen was started with immediate benefits for the patient. The spectrum of pathological entities able to cause superior vena cava syndrome is wide, and recognition of rare causes is important to tailor the therapeutic approach to the specific disease. This is, to the best of our knowledge, the first report of CIC-rearranged sarcoma presenting with superior vena cava syndrome.

cic重排肉瘤是一种罕见的间充质肿瘤,属于未分化小圆细胞肉瘤家族。本报告详细介绍了一个45岁男性的病例,表现为纵隔压迫症状,放射学诊断为纵隔肿块,并迅速发展为全面的上腔静脉综合征。用药理学方法成功地处理了这一紧急情况。cic重排肉瘤的病理诊断最初由荧光原位杂交结果支持,后来通过下一代测序验证,结果显示CIC-DUX4基因融合。化疗方案开始了,病人立即受益。能够引起上腔静脉综合征的病理实体范围很广,认识到罕见的原因对于针对特定疾病量身定制治疗方法非常重要。据我们所知,这是第一例以上腔静脉综合征为表现的cic重排肉瘤。
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引用次数: 0
Preoperative endoscopy and pathology report of the specimen to be recommended in sleeve gastrectomy? 术前内镜检查及标本病理报告推荐袖式胃切除术?
IF 3.5 Pub Date : 2023-04-01 DOI: 10.32074/1591-951X-781
Remo Alessandris, Federico Moroso, Mauro Michelotto, Matteo Fassan, Valentina Angerilli, Linda Callegari, Mirto Foletto

Objective: Preoperative upper gastrointestinal endoscopy (UGIE) and postoperative histopathological examination (HPE) of resected specimens are still controversial issues in bariatric surgery.

Methods: A retrospective review of prospectively collected laparoscopic sleeve gastrectomies (SG) performed at our institution for morbid obesity was carried out. All patients underwent pre-operative UGIE with biopsy, post-operative HPE and conventional post-operative follow-up.

Results: From January 2019 through January 2021 we performed a total of 501 laparoscopic SG. A total of 12 (2.4%) neoplasms were found, 2 evident at preoperative UGIE, 4 detected during operation, and 6 at HPE. Eight of these 12 cases had some malignant potential and 5 would not have been detected without HPE of the specimen. The most significant unexpected case was a fundic gland type adenocarcinoma in a 64-year-old female with severe obesity.

Conclusion: On the basis of our clinical experience, we recommend both preoperative endoscopic assessment and postoperative HPE of the specimen to provide the best available treatment to these patients.

目的:在减肥手术中,术前上消化道内镜检查(UGIE)和术后组织病理学检查(HPE)仍然是有争议的问题。方法:回顾性回顾前瞻性收集腹腔镜袖胃切除术(SG)在我所进行的病态肥胖。所有患者均行术前UGIE活检、术后HPE和常规术后随访。结果:从2019年1月到2021年1月,我们共进行了501例腹腔镜SG。共发现肿瘤12例(2.4%),术前UGIE 2例,术中发现4例,HPE 6例。这12例中有8例有一定的恶性潜能,5例没有标本的HPE就不会被发现。最重要的意外病例是一名64岁严重肥胖女性的基底腺型腺癌。结论:根据我们的临床经验,我们建议术前内镜评估和术后标本HPE,为这些患者提供最佳的治疗方法。
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引用次数: 0
Science and pseudo science: racist eugenics in Italy. 科学与伪科学:意大利的种族优生学。
IF 3.5 Pub Date : 2023-04-01 DOI: 10.32074/1591-951X-844
Carlo Patriarca, Piergiorgio Modena, Maura Massimino, Fabio Gibilisco, Mattia Barbareschi, Andreas Conca

In the present article we briefly discuss the historical premises of eugenics. Differences and some analogies between the Latin and the German way of eugenics in the 20th century are presented, until the tragic antisemitic turn. The fate of some children in the South Tyrol border region is also discussed, as well as the role of several anatomo-pathologists as willing executors of autopsies on the victims of the eugenic project of eliminating mentally and physically disabled people.

在本文中,我们简要地讨论优生学的历史前提。介绍了20世纪拉丁和德国优生学方式之间的差异和一些相似之处,直到悲剧的反犹主义转向。还讨论了南蒂罗尔边境地区一些儿童的命运,以及几名解剖病理学家作为自愿对消除精神和身体残疾者的优生项目受害者进行尸检的执行人的作用。
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引用次数: 0
Brief history of the who blue books on urinary and male genital tumours. 世卫组织泌尿和男性生殖器肿瘤蓝皮书简史。
IF 3.5 Pub Date : 2023-02-01 DOI: 10.32074/1591-951X-840
Ferran Algaba, Gabriella Nesi
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引用次数: 0
Newly recognised Tumour Types in Glioneuronal tumours according to the 5th edition of the CNS WHO Classification. 根据CNS世界卫生组织分类第5版新发现的胶质神经元肿瘤类型。
IF 3.5 Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-819
Valeria Barresi, Francesca Gianno, Gianluca Marucci

Glioneuronal tumours (GNT) are uncommon neoplasms, characterised by glial and neuronal differentiation.

In the 5th edition of the World Health Organization (WHO) Classification, they are grouped under the heading "Glioneuronal and neuronal tumours", which comprises fourteen different tumours, among which the diffuse glioneuronal tumour with oligodendroglioma-like cells and nuclear clusters (DGONC), myxoyd glioneuronal tumour (MGT) and multinodular and vacuolating neuronal tumour (MNVNT) are new types.

MGT and MNVNT are classified WHO grade 1 and may be recognised and diagnosed by peculiar clinical-pathological features. DGONC was not assigned a WHO grade and was only provisionally included among GNT, due to the possibility that it rather represents an embryonal tumour type or subtype. Although the histopathological characteristics may be useful for its identification, the specific methylation profile is an essential diagnostic criterion for DGONC.

神经胶质细胞肿瘤(GNT)是一种罕见的肿瘤,以胶质细胞和神经元分化为特征。在世界卫生组织(世卫组织)第5版分类中,它们被归类在“胶质细胞和神经元肿瘤”的标题下,其中包括14种不同的肿瘤,其中具有少突胶质细胞瘤样细胞和核簇的弥漫性胶质细胞肿瘤(DGONC)、黏液性胶质细胞肿瘤(MGT)和多结节和空泡性神经元肿瘤(MNVNT)是新类型。MGT和MNVNT被WHO列为1级,可通过特殊的临床病理特征来识别和诊断。由于DGONC可能代表一种胚胎肿瘤类型或亚型,因此未给WHO分级,也只是暂时纳入GNT。虽然组织病理学特征可能有助于其鉴定,但特异性甲基化谱是DGONC的基本诊断标准。
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引用次数: 2
Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome. 儿童型弥漫性低级别胶质瘤:在临床和生物学上与众不同的一组肿瘤,预后良好。
IF 4.4 Q1 PATHOLOGY Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-828
Viscardo Paolo Fabbri, Chiara Caporalini, Sofia Asioli, Annamaria Buccoliero

The WHO 2021 classification of central nervous system cancers distinguishes diffuse gliomas that arise in adults (referred to as the "adult type") and those that arise in children (defined as "paediatric") based on clinical and molecular characteristics."). However, paediatric-type gliomas may occasionally be present in younger adults and occasionally adult-type gliomas may occur in children. Diffuse low-grade paediatric glioma includes diffuse astrocytoma altered by MYB or MYBL1, low-grade polymorphic juvenile neuroepithelial tumour, angiocentric glioma, and diffuse low-grade glioma with an altered MAPK pathway. Here, we examine these newly recognised entities according to WHO diagnostic criteria and propose an integrated diagnostic approach that can be used to separate these clinically and biologically distinct tumor groups.

世卫组织 2021 年中枢神经系统癌症分类根据临床和分子特征,对成人弥漫性胶质瘤(称为 "成人型")和儿童弥漫性胶质瘤(定义为 "儿童型")进行了区分。)不过,儿童型胶质瘤偶尔也会出现在较年轻的成年人身上,成人型胶质瘤偶尔也会出现在儿童身上。弥漫低级别儿科胶质瘤包括MYB或MYBL1改变的弥漫星形细胞瘤、低级别多形性幼年神经上皮肿瘤、血管中心型胶质瘤和MAPK通路改变的弥漫低级别胶质瘤。在此,我们根据世界卫生组织的诊断标准对这些新发现的实体进行了研究,并提出了一种综合诊断方法,可用于区分这些在临床和生物学上截然不同的肿瘤组别。
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引用次数: 0
Ependymomas. Ependymes。
IF 3.5 Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-817
Luca Bertero, Alessia Andrea Ricci, Cristian Tampieri, Paola Cassoni, Piergiorgio Modena

Ependymal neoplasms are a heterogenous group of neoplasms arising from the progenitors of the cells lining the ventricular system and the spinal central canal. During the last few years, significant novel data concerning oncogenesis, molecular characteristics and clinical correlations of these tumours have been collected, with a strong relevance for their pathological classification. The recently published 5th edition of WHO Classification of Central Nervous System Tumours integrates this novel knowledge and represents a substantial update compared to the previous edition. Concerning supratentorial ependymomas, the previous RELA fusion-positive ependymoma has been renamed into ZFTA fusion-positive and the novel YAP1 fusion-positive ependymoma subtype has been added. Posterior fossa ependymomas should now be allocated either to the Type A or Type B subtypes based on molecular profiling or using the H3 K27me3 immunohistochemical surrogate. Regarding spinal ependymomas, a novel subtype has been added based on a distinctive molecular trait, presence of MYCN amplification, and on the unfavourable outcome. Finally, myxopapillary ependymoma is now classified as a grade 2 tumour in accordance with its overall prognosis which mirrors that of conventional spinal ependymomas. The aim of this review is to present these changes and summarize the current diagnostic framework of ependymal tumours, according to the most recent updates.

室管膜肿瘤是一种异质性肿瘤,起源于脑室系统和脊髓中央管内衬细胞的祖细胞。在过去的几年中,收集了有关肿瘤发生、分子特征和临床相关性的重要新数据,并与它们的病理分类有很强的相关性。最近出版的《世卫组织中枢神经系统肿瘤分类》第五版整合了这一新知识,与前一版相比有了重大更新。关于膜上室管膜瘤,先前的RELA融合阳性室管膜瘤已更名为ZFTA融合阳性,并增加了新的YAP1融合阳性室管膜瘤亚型。后窝室管膜瘤现在应该根据分子谱或使用H3 K27me3免疫组织化学替代品来划分为A型或B型亚型。关于脊髓室管膜瘤,基于一种独特的分子特征、MYCN扩增的存在和不利的结果,增加了一种新的亚型。最后,黏液乳头状室管膜瘤根据其总体预后与传统的脊髓室管膜瘤相似,现在被归类为2级肿瘤。本综述的目的是介绍这些变化,并根据最新的更新总结当前室管膜肿瘤的诊断框架。
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引用次数: 4
Adult type diffuse gliomas in the new 2021 WHO Classification. 2021年WHO新分类中的成人型弥漫性胶质瘤
IF 3.5 Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-823
Manila Antonelli, Pietro Luigi Poliani

Adult-type diffuse gliomas represent a group of highly infiltrative central nervous system tumors with a prognosis that significantly varies depending on the specific subtype and histological grade. Traditionally, adult-type diffuse gliomas have been classified based on their morphological features with a great interobserver variability and discrepancy in patient survival even within the same histological grade. Over the last few decades, advances in molecular profiling have drastically changed the diagnostic approach and classification of brain tumors leading to the development of an integrated morphological and molecular classification endowed with a more clinically relevant value. These concepts were largely anticipated in the revised fourth-edition of WHO classification of central nervous system tumors published in 2016. The fifth-edition (WHO 2021) moved molecular diagnostics forward into a full integration of molecular parameters with the histological features into an integrative diagnostic approach. Diagnosis of adult type diffuse gliomas, IDH mutant and IDH-wildtype has been simplified by introducing revised diagnostic and grading criteria. In this review, we will discuss the most recent updates to the classification of adult-type diffuse gliomas and summarize the essential diagnostic keys providing a practical guidance to pathologists.

成人型弥漫性胶质瘤是一组高度浸润的中枢神经系统肿瘤,其预后因具体亚型和组织学分级而有显著差异。传统上,成人型弥漫性胶质瘤是根据其形态学特征进行分类的,即使在相同的组织学分级内,观察者之间也存在很大的可变性和患者生存率的差异。在过去的几十年里,分子谱的进步极大地改变了脑肿瘤的诊断方法和分类,导致了一种综合形态学和分子分类的发展,赋予了更多的临床相关价值。这些概念在2016年出版的修订后的世卫组织中枢神经系统肿瘤分类第四版中得到了很大的预测。第五版(世卫组织2021年)将分子诊断向前推进,将分子参数与组织学特征完全整合为一种综合诊断方法。通过引入修订的诊断和分级标准,简化了成人型弥漫性胶质瘤、IDH突变型和IDH野生型的诊断。在这篇综述中,我们将讨论成人型弥漫性胶质瘤分类的最新进展,并总结必要的诊断关键,为病理学家提供实用指导。
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引用次数: 6
Expanding the spectrum of "mesenchymal" tumors of the central nervous system. 扩大了中枢神经系统“间质”肿瘤的范围。
IF 3.5 Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-826
Cristina Pizzimenti, Francesca Gianno, Marco Gessi

In this review, we summarize the clinical, histopathological, and molecular features of central nervous system (CNS) tumors with BCOR internal tandem duplication, intracranial mesenchymal tumor with FET/CREB fusion, CNS CIC-rearranged sarcomas and primary intracranial sarcoma DICER1-mutant, now included in the 2021 WHO classification of CNS tumors. Possible relationships between tumors occurring in the CNS and their systemic counterparts are discussed.

在这篇综述中,我们总结了BCOR内串联重复的中枢神经系统(CNS)肿瘤、FET/CREB融合的颅内间充质肿瘤、CNS cic重排肉瘤和原发性颅内肉瘤dicer1突变体的临床、组织病理学和分子特征,这些肿瘤现已被列入2021年WHO CNS肿瘤分类。本文讨论了发生在中枢神经系统的肿瘤与其系统对应肿瘤之间的可能关系。
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引用次数: 2
Introduction. 介绍。
IF 3.5 Pub Date : 2022-12-01 DOI: 10.32074/1591-951X-839
Mattia Barbareschi, Marco Gessi, Felice Giangaspero
This is an open access journal distributed in accordance with the CC-BY-NC-ND (Creative Commons AttributionNonCommercial-NoDerivatives 4.0 International) license: the work can be used by mentioning the author and the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons. org/licenses/by-nc-nd/4.0/deed.en PATHOLOGICA 2022;114:395-396; DOI: 10.32074/1591-951X-839
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引用次数: 0
期刊
PATHOLOGICA
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