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Diagnostic Histopathology最新文献

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Application of DNA- and RNA-based sequencing techniques to tumour tissue samples in the clinical laboratory 将基于 DNA 和 RNA 的测序技术应用于临床实验室中的肿瘤组织样本
Pub Date : 2024-10-05 DOI: 10.1016/j.mpdhp.2024.08.004
Lisa James, Nicola Chadderton, Alice Fair, Magdalena Nowak, Philippe Taniere
Next-generation sequencing (NGS) technologies have become an indispensable tool within the research field driving genomic discoveries and furthering our understanding of the genomic changes that lead to human disease. NGS technologies have great potential to provide invaluable genomic data that can be used to improve clinical diagnosis and the delivery of precision medicine. Over the past decade NGS has translated into the clinical setting for both hereditary and somatic indications. Whilst it has great potential in the clinic, the application of this technology for cancer faces a number of challenges, both technical and logistic. Consideration must be given to the role of this technology and how it is best used in the patient pathway. In this review we describe the current technologies routinely used in the clinical laboratory and provide insights into their application in solid tumour testing.
下一代测序(NGS)技术已成为研究领域不可或缺的工具,它推动了基因组学的发现,加深了我们对导致人类疾病的基因组变化的了解。NGS 技术具有巨大潜力,可提供宝贵的基因组数据,用于改善临床诊断和提供精准医疗。在过去的十年中,NGS 已经应用于遗传性和体细胞性疾病的临床治疗。虽然 NGS 在临床中具有巨大潜力,但将其应用于癌症却面临着技术和后勤方面的诸多挑战。我们必须考虑这项技术的作用,以及如何在患者治疗过程中更好地使用它。在这篇综述中,我们介绍了目前临床实验室常规使用的技术,并对这些技术在实体瘤检验中的应用进行了深入探讨。
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引用次数: 0
Infectious disease pathology in the nervous system: diagnostic problems 神经系统的传染病病理学:诊断问题
Pub Date : 2024-10-05 DOI: 10.1016/j.mpdhp.2024.09.003
Sebastian B Lucas
This article documents six unusual neuropathological scenarios, and discusses the practical problems in making neuro-infectious disease diagnoses in biopsy and morbid anatomy material. The infections depicted are malaria, HIV, leprosy, tuberculosis, mycosis, and larval nematodes.
本文记录了六种不同寻常的神经病理情况,并讨论了在活检和病理解剖材料中进行神经感染性疾病诊断的实际问题。这些感染包括疟疾、艾滋病、麻风病、结核病、霉菌病和幼虫线虫。
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引用次数: 0
A post-mortem approach to intra-cranial haemorrhage and traumatic brain injury 颅内出血和脑外伤的尸检方法
Pub Date : 2024-10-04 DOI: 10.1016/j.mpdhp.2024.09.005
George A. Johnson, Christopher P. Johnson, Robert Goldspring, Ian S. Scott
Intracranial haemorrhage and traumatic brain injury are entities commonly encountered by the Coroner's autopsy pathologist. Whilst some of these cases are straightforward, others are not, and these present challenges in the post-mortem room that require careful consideration and, at times, prompt decision making. Some of the questions a pathologist should ask themselves when considering the post-mortem are: are these external injuries suspicious, and should I be involving a forensic pathologist; is the pathology natural or unnatural; should I cut the brain fresh or fix, retain and refer the whole brain for neuropathology input? This review aims to serve as a practical guideline for approaching adult cases of intracranial haemorrhage and traumatic brain injury; pathologies that are encountered frequently but that can entrap the unwary. We consider the factors that should be considered before, during and after the autopsy, and the medicolegal factors of relevance in these cases.
颅内出血和脑外伤是验尸病理学家经常遇到的病症。其中一些病例比较简单,而另一些则不然,这给尸检室带来了挑战,需要仔细考虑,有时还需要迅速做出决定。病理学家在考虑尸检时应该问自己的一些问题是:这些外部损伤是否可疑,我是否应该让法医病理学家参与进来;病理是自然的还是不自然的;我应该切开新鲜的大脑还是固定、保留整个大脑并转诊至神经病理学部门?本综述旨在为处理成人颅内出血和脑外伤病例提供实用指南。我们考虑了尸检前、尸检中和尸检后应考虑的因素,以及与这些病例相关的医学法律因素。
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引用次数: 0
A practical approach to ophthalmic tumour pathology 眼科肿瘤病理学实用方法
Pub Date : 2024-09-26 DOI: 10.1016/j.mpdhp.2024.09.002
Kevin Kinch, Fiona Roberts
This review article provides a practical guide for non-specialist ophthalmic pathologists on how best to handle gross ophthalmic tumour specimens. It emphasises the importance of identifying macroscopic features that affect prognosis, ensuring optimal block selection for histological analysis. The article also discusses the increasing importance of molecular testing in ophthalmic tumour pathology and offers guidance on tissue sampling techniques to support this advanced diagnostic approach.
这篇综述文章为非专业眼科病理学家提供了一份实用指南,指导他们如何以最佳方式处理眼科肿瘤大体标本。文章强调了确定影响预后的宏观特征的重要性,确保为组织学分析选择最佳切块。文章还讨论了眼科肿瘤病理学中日益重要的分子检测,并就支持这种先进诊断方法的组织取样技术提供了指导。
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引用次数: 0
Molecular testing of gastrointestinal tumours 胃肠道肿瘤的分子检测
Pub Date : 2024-09-11 DOI: 10.1016/j.mpdhp.2024.08.003
Matthew Evans, Reena Dessi, Lee Robertson, Stephanie Gawthorpe, Brendan O'Sullivan, Salvador Diaz-Cano, Philippe Taniere
Cancers of the gastrointestinal tract are a major cause of morbidity and mortality globally and, not surprisingly, there has been intense interest in identifying prognostic and predictive markers for new targeted therapies. The cancers of the gastrointestinal tract are unique in so completely exemplifying many of the key features of biomarker profiling across all solid cancers. Firstly, they involve the assessment of many individual biomarkers of many types, with both genomic and proteomic markers requiring assessment for complete profiling. Secondly, the interpretation of one biomarker is often critically dependent on the presence or absence of other biomarkers. And finally, this vast array of testing must be delivered often on very small samples. Here, we review the clinically-validated molecular targets in carcinomas of the esophagus, stomach, colorectum and anal canal, and in gastrointestinal stromal tumors, and discuss a handful of markers which are likely to be of use in the future.
胃肠道癌症是全球发病率和死亡率的主要原因之一,因此,人们对确定新靶向疗法的预后和预测标志物产生了浓厚的兴趣,这也就不足为奇了。胃肠道癌症是独一无二的,它完全体现了所有实体瘤生物标志物分析的许多关键特征。首先,它们涉及许多类型的单个生物标志物的评估,基因组和蛋白质组标志物都需要评估,以进行完整的分析。其次,对一种生物标志物的解释往往关键取决于是否存在其他生物标志物。最后,这些种类繁多的检测通常必须在非常小的样本上进行。在此,我们回顾了食管癌、胃癌、结直肠癌、肛管癌以及胃肠道间质瘤中经临床验证的分子靶点,并讨论了一些未来可能会用到的标记物。
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引用次数: 0
Unveiling diaphragm disease in a young female presenting with multiple small bowel strictures: a case report 病例报告:一名年轻女性因多发性小肠狭窄而患上的揭膜膈疾病
Pub Date : 2024-09-11 DOI: 10.1016/j.mpdhp.2024.08.006
Kanchana Morawakkorala, Narendra S Mungalsingh
Diaphragm disease, typically seen in elderly females, manifests as small bowel strictures with diaphragm-like septa, often causing bowel obstruction. We present a case of a young female with chronic abdominal pain and subacute bowel obstruction. She had a prior history of irrational use of non-steroidal anti-inflammatory drugs (NSAIDs), which was discontinued approximately 5 years ago. The initial diagnostics via magnetic resonance enterography (MRE) and capsule endoscopy suggested Crohn's disease due to multiple small bowel strictures. Surgical intervention, including resection and anastomosis, was performed to alleviate the obstruction. Histopathological examination of the resected specimen confirmed diaphragm disease induced by prior NSAID use. This case underscores that diaphragm disease can occur in young individuals without ongoing NSAID exposure and should be considered as a differential diagnosis for Crohn's disease in patients with chronic abdominal pain and subacute bowel obstruction, regardless of their current NSAID usage history.
膈肌病通常见于老年女性,表现为带有膈肌样隔膜的小肠狭窄,常引起肠梗阻。我们为您介绍一例患有慢性腹痛和亚急性肠梗阻的年轻女性。她曾有不合理使用非甾体抗炎药(NSAIDs)的病史,大约 5 年前停药。通过磁共振肠道造影术(MRE)和胶囊内镜检查,初步诊断结果显示她患有多发性小肠狭窄的克罗恩病。为缓解梗阻,患者接受了手术治疗,包括切除和吻合术。切除标本的组织病理学检查证实,膈肌疾病是由之前使用非甾体抗炎药引起的。本病例强调,横膈膜病可能发生在没有持续接触非甾体抗炎药的年轻人身上,对于慢性腹痛和亚急性肠梗阻患者,无论其目前是否有使用非甾体抗炎药的历史,都应将其视为克罗恩病的鉴别诊断。
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引用次数: 0
Immunohistochemistry for prediction of response to immunotherapy 用于预测免疫疗法反应的免疫组化技术
Pub Date : 2024-09-10 DOI: 10.1016/j.mpdhp.2024.08.002
Alexander Haragan
For almost a decade predicting the response of malignant tumours to treatment with immunotherapies has been dependent on PD-L1 expression by immunohistochemistry. Much has been learned about the uniquely challenging application of PD-L1 immunohistochemistry which is utilized in a constantly expanding array of tumour types and clinical contexts. More recently, other predictive biomarkers have acquired clinical validation including tumour mismatch repair deficiency. In this short review, I will assess the strengths and weaknesses of PD-L1 immunohistochemistry, including pre-analytics, analytics and post-analytics in the context of the complex underlying biology. In doing so, I hope to provide some practical guidance that will help optimize its application in routine practice. I will also highlight the various contexts in which immunohistochemistry for PD-L1 and mis-match repair is used to predict response to immunotherapies and how ongoing developments of novel immunohistochemistry based biomarkers might assist in strengthening the ability to predict response to immunotherapies.
近十年来,通过免疫组化方法预测恶性肿瘤对免疫疗法的反应一直依赖于 PD-L1 的表达。PD-L1 免疫组化的应用具有独特的挑战性,在不断扩大的肿瘤类型和临床环境中得到了广泛应用。最近,其他预测性生物标志物也获得了临床验证,包括肿瘤错配修复缺陷。在这篇简短的综述中,我将评估 PD-L1 免疫组化的优缺点,包括在复杂的基础生物学背景下的分析前、分析中和分析后。在此过程中,我希望能提供一些实用指导,帮助优化其在常规实践中的应用。我还将重点介绍免疫组化PD-L1和错配修复用于预测免疫疗法反应的各种情况,以及基于免疫组化的新型生物标记物的不断发展如何有助于加强预测免疫疗法反应的能力。
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引用次数: 0
The case of the missing lung: how tissue identity is confirmed in histopathology 失踪的肺部:组织病理学如何确认组织身份
Pub Date : 2024-09-05 DOI: 10.1016/j.mpdhp.2024.08.005
Daniel T Field, David A Dorward
This case describes a situation of mislabeling of specimen pots that led to a malignant diagnosis being attributed to the wrong patient's surgical resection. Short tandem repeat analysis was used to determine which specimen originated from the two patients involved. This report describes a not infrequent scenario for pathologists and how current genetic techniques can be used to resolve issues of patient/tissue identity.
本病例描述了标本罐标签错误的情况,导致恶性诊断被归因于错误的患者手术切除。通过短串联重复分析,确定了两名患者的标本来源。本报告描述了病理学家经常遇到的情况,以及如何利用当前的基因技术解决患者/组织身份问题。
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引用次数: 0
Artificial intelligence and digital pathology: where are we now and what are the implementation barriers? 人工智能和数字病理学:我们现在处于什么阶段,有哪些实施障碍?
Pub Date : 2024-09-02 DOI: 10.1016/j.mpdhp.2024.08.001
Benjamin Moxley-Wyles, Richard Colling
Artificial intelligence (AI) has garnered significant public attention over the last few years and has become part of our everyday lives. This is no different in histopathology, with vast amounts of private and public sector investment into digital reporting and AI development. There are now several companies with commercially available AI decision support tools ready for adoption by pathologists in digitally mature laboratories. Many more pathology-oriented AI tools, with a variety of uses across the patient pathway, are on the horizon and include the possibility of multimodal integration. However, for AI in pathology to be used effectively and its benefits realized, there needs to be widespread ‘business as usual’ use of digital laboratory workflows and digital reporting. The NHS is currently undergoing a national pathology transformation programme that includes targets for digital reporting and AI ready capabilities for all laboratories in England. In this article, we provide an update on the current progress of AI development in histopathology including the AI tools currently available and potential future applications. We also discuss the ongoing implementation of digital pathology services in the NHS and highlight the barriers to building a strong foundation for AI tool deployment. This builds upon, and complements, our previous article on these issues.
人工智能(AI)在过去几年中引起了公众的极大关注,并已成为我们日常生活的一部分。组织病理学也不例外,私营和公共部门对数字报告和人工智能开发进行了大量投资。目前已有多家公司推出了商业化的人工智能决策支持工具,可供数字化成熟实验室的病理学家采用。还有更多面向病理学的人工智能工具即将问世,这些工具在患者的整个病程中具有多种用途,并有可能实现多模态集成。然而,要想在病理学领域有效使用人工智能并实现其优势,就必须广泛 "照常 "使用数字化实验室工作流程和数字化报告。英国国家医疗服务体系(NHS)目前正在实施一项国家病理学转型计划,其中包括为英格兰所有实验室提供数字报告和人工智能就绪能力的目标。在本文中,我们将介绍组织病理学领域人工智能发展的最新进展,包括目前可用的人工智能工具和未来可能的应用。我们还讨论了英国国家医疗服务系统(NHS)正在实施的数字病理服务,并强调了为人工智能工具部署奠定坚实基础所面临的障碍。这篇文章是对我们之前有关这些问题的文章的补充和完善。
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引用次数: 0
An overview of infectious disease laboratory methods: an update for the histopathologist 传染病实验室方法概述:组织病理学家的最新进展
Pub Date : 2024-08-17 DOI: 10.1016/j.mpdhp.2024.07.001
Daniel R. Stevenson
The histopathologist plays a crucial role in the diagnosis of infectious diseases. In some cases they are the first to highlight the presence of an infection where one was not initially suspected. Collaboration with other specialities is a key part of the histopathologist's work, though specialist knowledge of infectious disease pathology remains a niche area for many. The field of infectious disease diagnostics has undergone tremendous change over the past four decades, while maintaining methods developed by the pioneers of microbiology a century ago. This review will start with an outline of the key methodologies of microscopy, culture, serology, fungal antigen testing, and molecular techniques. The second part will focus on particular histopathological findings and their associated infections. The examples provided are representative of scenarios encountered in our practice in the United Kingdom. We include examples of the diagnostic workup of granulomatous inflammation, sulphur granules containing filamentous bacteria and viral cytopathic effects. The possibilities for PCR testing on fixed formalin paraffin embedded tissues is discussed. This review provides a foundation for histopathology trainees and specialists to strengthen their knowledge of infection diagnostics.
组织病理学家在传染病诊断中起着至关重要的作用。在某些情况下,组织病理学家是第一个发现最初未被怀疑的感染的人。与其他专科的合作是组织病理学家工作的关键部分,尽管对许多人来说,传染病病理学的专业知识仍然是一个利基领域。在过去的四十年中,传染病诊断领域发生了巨大的变化,但仍保留了一个世纪前微生物学先驱们开发的方法。本综述将首先概述显微镜、培养、血清学、真菌抗原检测和分子技术等关键方法。第二部分将重点介绍特定的组织病理学发现及其相关感染。所提供的例子都是我们在英国的实践中遇到的具有代表性的情况。我们将举例说明肉芽肿性炎症、含丝状细菌的硫磺颗粒和病毒细胞病理效应的诊断工作。我们还讨论了对固定的福尔马林石蜡包埋组织进行 PCR 检测的可能性。这篇综述为组织病理学学员和专家加强感染诊断知识奠定了基础。
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引用次数: 0
期刊
Diagnostic Histopathology
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