Diagnostic Histopathology最新文献

英文中文

Podocyte infolding glomerulopathy: a rare entity 足细胞与折叠性肾小球病变：一种罕见的疾病

Diagnostic Histopathology

Pub Date : 2025-04-28 DOI: 10.1016/j.mpdhp.2025.04.008

Anastasiya Kret, Ali Al-Omari, Bart Wagner

A female in her 30s presented with worsening lower limb swelling. Her past medical history included primary hypothyroidism, learning difficulties and an atrial septal defect. She was found to have a nephrotic syndrome and was referred to Nephrology with worsening oedema and proteinuria. The initial blood workup showed a mildly elevated serum C3 level and a polyclonal increase in serum IgM level. Renal biopsy was performed which on H&E demonstrated glomeruli with mild mesangial hypercellularity and prominent capillary walls. Electron microscopy showed severe podocyte foot processes effacement and unusual podocyte inclusions which were protruding into the glomerular basement membrane. She was diagnosed with minimal change disease. The exact nature of these peculiar podocyte inclusions remained unknown until the entity of podocyte infolding glomerulopathy (PIG) was published in the English language literature in 2008. In retrospect, we believe the changes observed in our case were due to PIG.

一名30多岁的女性下肢肿胀加重。既往病史包括原发性甲状腺功能减退、学习困难和房间隔缺损。她被发现患有肾病综合征，并因水肿和蛋白尿恶化而转介肾脏病科。最初的血液检查显示血清C3水平轻度升高，血清IgM水平多克隆性升高。肾活检显示，H&；E肾小球系膜轻度细胞增多，毛细血管壁突出。电镜显示足细胞足突明显消失，不寻常的足细胞包涵体突入肾小球基底膜。她被诊断为微小病变。这些特殊足细胞内含物的确切性质一直不为人所知，直到2008年足细胞内折叠肾小球病（PIG）的实体在英语文献中发表。回想起来，我们认为在我们的案例中观察到的变化是由于PIG。

引用次数: 0

Pathology in the artificial intelligence era: practical insights for immunohistochemistry and molecular pathology 人工智能时代的病理学：免疫组织化学和分子病理学的实践见解

Diagnostic Histopathology

Pub Date : 2025-04-26 DOI: 10.1016/j.mpdhp.2025.04.003

Gabriel Wasinger, Maximilian C Koeller, Eva Compérat

Artificial intelligence (AI) is driving a revolution in pathology, transforming traditional workflows and addressing critical challenges in the field. This review highlights the integration of AI into immunohistochemistry (IHC) and molecular pathology (MP), where its potential to enhance diagnostic accuracy, efficiency, and reproducibility is becoming increasingly evident. In IHC, AI tools offer solutions to limitations such as subjective biomarker scoring, interobserver variability, and growing workloads by enabling automated and consistent analysis of diagnostic and predictive markers. Similarly, in MP, AI addresses challenges in tumor annotation, genetic mutation interpretation and prediction, and integration of multidimensional data to streamline workflows and enhance precision medicine. By combining computational power with pathologists' expertise, AI holds the promise of reshaping pathology into a more efficient, reliable, and scalable discipline. However, continued efforts in validation, transparency, and cost optimization will be crucial to fully realize AI's transformative potential in clinical pathology.

人工智能（AI）正在推动病理学的革命，改变传统的工作流程并解决该领域的关键挑战。这篇综述强调了人工智能与免疫组织化学（IHC）和分子病理学（MP）的结合，其在提高诊断准确性、效率和可重复性方面的潜力正变得越来越明显。在IHC中，人工智能工具通过实现诊断和预测标记的自动化和一致分析，为主观生物标记评分、观察者之间的可变性和不断增长的工作量等局限性提供了解决方案。同样，在MP中，AI解决了肿瘤注释、基因突变解释和预测以及多维数据集成方面的挑战，以简化工作流程并增强精准医疗。通过将计算能力与病理学家的专业知识相结合，人工智能有望将病理学重塑为一门更高效、更可靠、更可扩展的学科。然而，在验证、透明度和成本优化方面的持续努力对于充分发挥人工智能在临床病理学中的变革潜力至关重要。

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引用次数: 0

Schistosomiasis: extensive urinary bladder infiltration in an unusual case of suspected cancer 血吸虫病：怀疑癌症的罕见病例膀胱广泛浸润

Diagnostic Histopathology

Pub Date : 2025-04-25 DOI: 10.1016/j.mpdhp.2025.04.006

Caroline Cartlidge, Selina Bhattarai

We present a case of a teenage boy with haematuria who underwent a trans urethral removal of bladder tumour (TURBT) for multiple solid bladder lesions with sandy patches. Investigations led to a diagnosis of schistosomiasis. The clinical, radiological, macroscopic, and microscopic histological findings are highlighted. We discuss the complex parasitic life cycle of Schistosoma and the well evidenced link between schistosomiasis and bladder cancer, specifically high-grade squamous cell carcinoma.

我们报告一个患有血尿的十几岁男孩，他接受了经尿道膀胱肿瘤切除术（TURBT），因为多发实性膀胱病变伴沙质斑块。调查结果诊断为血吸虫病。强调临床、放射学、宏观和显微组织学的发现。我们讨论了血吸虫复杂的寄生生命周期和血吸虫病与膀胱癌，特别是高级别鳞状细胞癌之间的充分证据的联系。

引用次数: 0

Decoding liver biopsies: a pattern-based approach 解码肝活检：一种基于模式的方法

Diagnostic Histopathology

Pub Date : 2025-04-23 DOI: 10.1016/j.mpdhp.2025.03.010

Nemencio Ronquillo, Monica T Garcia-Buitrago

The histological evaluation of liver biopsies is a crucial component in the diagnosis and management of a wide range of liver diseases. This process, often complex and detailed, requires a systematic, stepwise approach. Initially, pathologists must identify the overall injury pattern at low magnification, providing a foundation for further investigation. Once the injury pattern is recognized, it is essential to carefully examine the biopsy for distinctive microscopic features that may provide additional diagnostic clues. Many hepatic injury patterns are linked to well-established differential diagnoses, which help guide the diagnostic process. The assessment of a liver biopsy extends beyond simply identifying injury patterns. It requires a thoughtful integration of pathological findings, differential diagnoses, the patient's clinical presentation, as well as relevant laboratory tests and imaging studies. This comprehensive approach is essential, as it offers invaluable insights into the underlying etiology of the liver disease. In this review, we will focus on the most commonly encountered hepatic injury patterns. By enhancing the diagnostic accuracy and ensuring a thorough interpretation of liver biopsies, pathologists can significantly contribute to the effective management and treatment of liver disorders.

肝活检的组织学评估是诊断和管理广泛的肝脏疾病的一个重要组成部分。这个过程通常复杂而详细，需要系统的、逐步的方法。最初，病理学家必须在低倍镜下确定整体损伤模式，为进一步研究提供基础。一旦损伤模式被识别，必须仔细检查活检的独特的显微镜特征，可能提供额外的诊断线索。许多肝损伤模式与完善的鉴别诊断有关，这有助于指导诊断过程。肝活检的评估不仅仅是识别损伤模式。它需要对病理表现、鉴别诊断、患者临床表现以及相关的实验室检查和影像学研究进行深思熟虑的整合。这种全面的方法是必不可少的，因为它为肝病的潜在病因提供了宝贵的见解。在这篇综述中，我们将重点介绍最常见的肝损伤类型。通过提高诊断的准确性和确保肝脏活检的彻底解释，病理学家可以显著有助于有效的管理和治疗肝脏疾病。

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引用次数: 0

Gallbladder pathology: unveiling the latest breakthroughs 胆囊病理学：揭示最新突破

Diagnostic Histopathology

Pub Date : 2025-04-21 DOI: 10.1016/j.mpdhp.2025.03.009

Ashwin S Akki, Daniela S Allende

The gallbladder may be affected by a number of pathologic processes resulting in varied clinical presentations. While inflammatory conditions of the gallbladder especially acute and chronic cholecystitis are more common, advanced neoplasms can be aggressive with an abysmal five-year survival. Accurate and timely diagnoses of these pathologies promote effective clinical management. This review summaries the key disease processes affecting the gallbladder and recent updates in the understanding of these entities.

胆囊可能受到许多病理过程的影响，导致不同的临床表现。虽然胆囊炎症，尤其是急性和慢性胆囊炎更为常见，但晚期肿瘤可能具有侵袭性，5年生存率极低。准确和及时的诊断这些病理促进有效的临床管理。本文综述了影响胆囊的主要疾病过程以及对这些实体的最新认识。

引用次数: 0

Advancements and challenges in biomarker testing for tumors of the luminal gastrointestinal tract: current practice guidelines and emerging markers 胃肠道肿瘤生物标志物检测的进展和挑战：当前实践指南和新兴标志物

Diagnostic Histopathology

Pub Date : 2025-04-11 DOI: 10.1016/j.mpdhp.2025.03.011

Ashley Lauren Hein, Erika Hissong

Gastrointestinal tract tumors represent a major cause of morbidity and mortality world-wide. With recent technological advancements, the emergence of new biomarkers that offer diagnostic or prognostic information, monitor disease burden, and guide therapy has drastically enhanced our ability to provide effective and timely personalized medicine. Herein, we discuss the array of biomarkers which are currently recommended for clinical use in tumors of the luminal gastrointestinal tract and discuss several recently discovered biomarkers that have shown promising results.

胃肠道肿瘤是世界范围内发病率和死亡率的主要原因。随着最近技术的进步，新的生物标志物的出现，提供诊断或预后信息，监测疾病负担，指导治疗，大大提高了我们提供有效和及时的个性化医疗的能力。在此，我们讨论了目前推荐用于临床应用的一系列生物标志物，并讨论了最近发现的几种显示出有希望结果的生物标志物。

引用次数: 0

Beyond the mucosa: unveiling selected mesenchymal lesions of the gastrointestinal tract 粘膜外：揭示胃肠道间质病变

Diagnostic Histopathology

Pub Date : 2025-04-09 DOI: 10.1016/j.mpdhp.2025.03.013

Domenika Ortiz Requena, Elizabeth A Montgomery

Although rare in everyday practice, the gastrointestinal tract is the most common visceral site of mesenchymal neoplasms. The clinical presentation, layer involved and some histological features of these neoplasms in the gastrointestinal system can overlap among each other and can generate challenging diagnostic problems for surgical pathologists. Additionally, misdiagnoses on initial biopsy can result in misguided patient management and preoperative treatment. Herein, we offer a review of the morphologic and immunophenotypic features of selected mesenchymal neoplasms arising from the submucosa, muscularis propria, and mesentery with emphasis on the inherent diagnostic pitfalls and differential diagnoses of these entities to aid surgical pathologists in their accurate recognition which is imperative for patient clinical management, syndromic associations, and treatment.

虽然在日常实践中很少发生，但胃肠道是最常见的间充质肿瘤的内脏部位。这些胃肠道肿瘤的临床表现、受累层和一些组织学特征可能相互重叠，给外科病理学家带来了具有挑战性的诊断问题。此外，最初活检的误诊可能导致错误的患者管理和术前治疗。在此，我们回顾了粘膜下层、固有肌层和肠系膜间质肿瘤的形态学和免疫表型特征，重点介绍了这些肿瘤的固有诊断缺陷和鉴别诊断，以帮助外科病理学家准确识别，这对患者临床管理、综合征关联和治疗至关重要。

引用次数: 0

Dysplastic lesions of the liver: two cases demonstrating the key pathological principles 肝脏发育不良病变：两例主要病理原理

Diagnostic Histopathology

Pub Date : 2025-04-07 DOI: 10.1016/j.mpdhp.2025.03.016

Daniel T Field, Christopher OC Bellamy, Timothy J Kendall

Two cases of steatohepatitis-associated cirrhosis containing high grade dysplastic nodules are discussed, one with hepatocellular carcinoma arising within. The spectrum of dysplastic hepatocellular lesions is explored in addition to the possible diagnostic pitfalls and strategies that may be deployed by the pathologist, particularly when differentiating malignancy from non-malignant lesions.

本文讨论了两例脂肪性肝炎相关肝硬化伴高级别发育不良结节的病例，其中一例伴有肝细胞癌。除了可能的诊断陷阱和病理学家可能部署的策略外，还探讨了发育不良肝细胞病变的频谱，特别是在区分恶性和非恶性病变时。

引用次数: 0

Novel anal lesions not to overlook 新的肛门病变不容忽视

Diagnostic Histopathology

Pub Date : 2025-04-04 DOI: 10.1016/j.mpdhp.2025.03.014

Ozlem Kulak, Jacqueline E Birkness-Gartman

Although the anal canal comprises only a small portion of the gastrointestinal tract, it can be affected by a variety of inflammatory and neoplastic processes. Inflammation of the anal mucosa can result from trauma, infections, and inflammatory bowel disease. Non-neoplastic lesions such as inflammatory cloacogenic polyps, hemorrhoids, and fibroepithelial polyps are relatively common, but may harbor other lesions, necessitating careful histologic assessment. The anogenital mammary-like glands and perianal skin can give rise to neoplasms including hidradenoma papilliferum and basal cell carcinoma. Human papillomavirus (HPV) is an important cause of squamous dysplasia and squamous cell carcinoma, as well as several recently described non-squamous neoplasms. Adenocarcinoma of the anus is divided into intestinal, anal gland, and fistula-associated types, which have unique morphologic features. Anal Paget's disease can occur as a primary neoplasm, or may be secondary to underlying adenocarcinoma. Less common neoplasms of the anus include neuroendocrine neoplasms, mucosal melanoma, and mesenchymal neoplasms such as granular cell tumor and gastrointestinal stromal tumor (GIST). This review will cover the clinical presentation, key histologic features, differential diagnosis, and relevant ancillary studies to consider for each condition. Recognition of inflammatory and neoplastic diseases of the anus is essential to guide appropriate treatment of patients.

虽然肛管只占胃肠道的一小部分，但它可以受到各种炎症和肿瘤过程的影响。肛门粘膜的炎症可由外伤、感染和炎症性肠病引起。非肿瘤性病变，如炎性阴囊性息肉、痔疮和纤维上皮性息肉相对常见，但可能存在其他病变，需要仔细的组织学评估。肛门生殖器乳腺样腺和肛周皮肤可产生包括乳头状腺瘤和基底细胞癌在内的肿瘤。人乳头瘤病毒（HPV）是鳞状异常增生和鳞状细胞癌的重要原因，以及最近描述的几种非鳞状肿瘤。肛门腺癌分为肠型、肛门腺型和瘘管相关型，它们具有独特的形态特征。肛门佩吉特病可以作为原发性肿瘤发生，也可以继发于潜在的腺癌。不太常见的肛门肿瘤包括神经内分泌肿瘤、粘膜黑色素瘤和间质肿瘤，如颗粒细胞瘤和胃肠道间质瘤（GIST）。这篇综述将涵盖临床表现，关键的组织学特征，鉴别诊断和相关的辅助研究，以考虑每个条件。识别肛门的炎症性和肿瘤性疾病对于指导患者的适当治疗至关重要。

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引用次数: 0

Spindle cell mesenchymal tumours of the head and neck: emerging and recently described entities characterised by molecular findings 头颈部梭形细胞间质肿瘤：新出现的和最近描述的以分子发现为特征的实体

Diagnostic Histopathology

Pub Date : 2025-04-01 DOI: 10.1016/j.mpdhp.2025.02.002

Marguerite Carter, Adrienne M Flanagan

The classification of mesenchymal neoplasms is rapidly expanding, with a marked increase in entities defined not only by traditional morphological parameters, but according to the underlying molecular genetic alterations driving tumorigenesis. We aim to provide an overview of a selection of recently described and emerging entities relevant to the head and neck pathologist, with an emphasis on the morphological and immunohistochemical findings that can prompt consideration of referral for molecular testing. In this review we provide an overview of: 1) TIMP3::ALK rearranged tumour, 2) spindle cell/sclerosing rhabdomyosarcoma with emphasis on tumours harbouring rearrangements of TFCP2, 3) EWSR1::POU2AF3 sarcoma, 4) sarcomas with EWSR1::PATZ1 fusions and 5) GLI1-altered soft tissue tumour.

间充质肿瘤的分类正在迅速扩大，不仅由传统形态学参数定义的实体显著增加，而且根据驱动肿瘤发生的潜在分子遗传改变来定义。我们的目标是提供一个概述的选择最近描述和新兴实体相关的头颈部病理学家，重点是形态学和免疫组织化学的发现，可以提示考虑转介分子检测。本文综述了TIMP3::ALK重排肿瘤，梭形细胞/硬化横纹肌肉瘤，重点是TFCP2重排肿瘤，EWSR1::POU2AF3肉瘤，EWSR1::PATZ1融合肉瘤，以及gli1改变的软组织肿瘤。

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