Diagnostic Histopathology最新文献

英文中文

Cardiac amyloidosis: a clinical and pathological review 心脏淀粉样变：临床和病理回顾

Diagnostic Histopathology

Pub Date : 2025-12-09 DOI: 10.1016/j.mpdhp.2025.11.001

Joseph J. Maleszewski

Amyloidosis is a broad class of diseases all of which result in deposition of misfolded extracellular protein that result in organ dysfunction. Once considered a rare condition, cardiac amyloidosis is increasingly being identified in the ageing population and is responsible for significant morbidity and mortality, often mediated through heart failure. Our understanding of the disease, both from epidemiologic and pathobiologic perspectives has improved tremendously over the last decade, owing to greatly improved screening techniques as well as highly specific proteomic means of amyloid classification. Along with these advances, has come a host of revolutionary treatment strategies that have the potential to change the prognosis in heart failure patients. This review provides an overview of the relevant clinical issues that surround cardiac amyloidosis and is intended to update the reader on the contemporary diagnostic and therapeutic strategies for these patients.

淀粉样变性是一类广泛的疾病，所有这些疾病都导致错误折叠的细胞外蛋白沉积，导致器官功能障碍。心脏淀粉样变性曾经被认为是一种罕见的疾病，现在越来越多地在老龄化人口中被发现，它是造成严重发病率和死亡率的原因，通常通过心力衰竭介导。在过去的十年中，由于筛查技术以及淀粉样蛋白分类的高度特异性蛋白质组学手段的大大改进，我们对这种疾病的理解，无论是从流行病学还是病理生物学的角度都有了极大的提高。随着这些进步，出现了许多革命性的治疗策略，这些策略有可能改变心力衰竭患者的预后。这篇综述提供了围绕心脏淀粉样变性的相关临床问题的概述，旨在更新读者对这些患者的当代诊断和治疗策略。

引用次数: 0

Cardiac sarcoidosis, a cause of sudden cardiac death 心脏结节病，心脏性猝死的一种原因

Diagnostic Histopathology

Pub Date : 2025-12-03 DOI: 10.1016/j.mpdhp.2025.11.006

Katrina Z Freimane, Kenal Patel, Kathryn J Griffin

A 35-year-old white male with no medical history was found unresponsive. A postmortem examination revealed an enlarged heart showing left ventricular thickening and diffuse pale areas. Hilar lymphadenopathy was noted, and numerous white-tan nodules were present throughout the lungs and spleen, and, focally, in the liver. Postmortem toxicology testing revealed no significant findings. Histology demonstrated extensive non-caseating granulomas with multinucleated giant cells, asteroid bodies, Schaumann bodies and lymphocytic inflammation within the heart, lungs, spleen, lymph nodes and the liver. Sections of the heart also showed widespread fibrosis. A diagnosis of systemic sarcoidosis with cardiac involvement was offered, which likely lead to a fatal cardiac arrhythmia. This case highlights the importance of meticulous postmortem evaluation in suspected sudden cardiac deaths, as this will inform whether genetic testing for inherited cardiac conditions should be offered to the family of the deceased. A comprehensive work-up of a case with suspected sudden cardiac death should include histology, toxicology and consideration of the need to retain spleen for future genetic testing.

一名35岁白人男性，无病史，无反应。尸检显示心脏增大，左心室增厚，弥漫性苍白。肝门淋巴结病变，肺和脾可见大量白褐色结节，局部可见肝脏。死后毒理学测试没有发现什么重大发现。组织学表现为广泛的非干酪化肉芽肿伴多核巨细胞、小行星体、邵曼体及心、肺、脾、淋巴结和肝脏淋巴细胞炎症。心脏切片也显示广泛的纤维化。诊断为系统性结节病累及心脏，可能导致致命的心律失常。该病例突出了对疑似心源性猝死进行细致的尸检评估的重要性，因为这将告知是否应向死者家属提供遗传性心脏病的基因检测。对疑似心源性猝死病例的全面检查应包括组织学、毒理学和考虑是否需要保留脾脏以备将来进行基因检测。

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引用次数: 0

Gestational trophoblastic disease tumours and mimics: an up-to-date review of morphology and immunocytochemistry to aid the diagnosis 妊娠滋养细胞疾病肿瘤和模拟：形态学和免疫细胞化学的最新回顾，以帮助诊断

Diagnostic Histopathology

Pub Date : 2025-11-28 DOI: 10.1016/j.mpdhp.2025.10.007

Katie McDonald

Gestational trophoblastic disease is an umbrella term for a rare group of lesions which range from benign to malignant. Even experienced gynaecological pathologists encounter these entities infrequently, underscoring the importance of a clear and systematic diagnostic approach. This article outlines the morphology and immunocytochemical staining of trophoblast in normal gestations then malignant tumours and their mimics in depth. The differential diagnoses are split into three sub-sections. Firstly, the lesions with three trophoblast cell lineages: choriocarcinomas, molar disease, mixed tumours and their benign mimics. Secondly, tumours resembling implantation-type intermediate trophoblast: placental site trophoblastic tumour and various mimics, both primary and secondary. Thirdly, tumours resembling chorionic-type intermediate trophoblast: epithelioid trophoblastic tumours, placental site nodules, atypical placental site nodules and some rarer malignant differential diagnoses. For the patients, precise diagnosis of these different entities can allow optimal management including monitoring, chemotherapy and immune modulators, and can preserve future fertility. Ongoing and future research is discussed at the end, and a brief mention of the centralised system in the UK. This article offers a clear diagnostic approach towards trophoblastic tumours, for training and practising pathologists.

妊娠滋养细胞疾病是一组罕见病变的总称，其范围从良性到恶性。即使是经验丰富的妇科病理学家也很少遇到这些实体，强调了明确和系统诊断方法的重要性。本文详细介绍了正常妊娠、恶性肿瘤及其类似物中滋养细胞的形态和免疫细胞化学染色。鉴别诊断分为三个小节。首先，具有三种滋养细胞系的病变：绒毛膜癌、磨牙病、混合性肿瘤及其良性模拟。其次，类似于植入型中间滋养细胞的肿瘤：胎盘部位滋养细胞肿瘤和各种模拟肿瘤，包括原发性和继发性。第三，类似绒毛膜型中间滋养细胞的肿瘤：上皮样滋养细胞肿瘤、胎盘结节、不典型胎盘结节和一些罕见的恶性鉴别诊断。对于患者来说，精确诊断这些不同的实体可以允许最佳的管理，包括监测，化疗和免疫调节剂，并可以保留未来的生育能力。最后讨论了正在进行的和未来的研究，并简要提到了英国的集中式系统。本文提供了一个明确的诊断方法，对滋养细胞肿瘤，培训和执业病理学家。

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Gastric glomus tumour with positive DOG1 and synaptophysin expression: a diagnostic challenge 胃球囊肿瘤伴DOG1和突触素阳性表达：一个诊断挑战

Diagnostic Histopathology

Pub Date : 2025-11-28 DOI: 10.1016/j.mpdhp.2025.11.007

Tariq Marsh-Henry, Sarah Grenfell, Tim Bracey

Gastric glomus tumours can mimic gastrointestinal stromal tumour (GIST) clinically and histologically. We present a case of gastric glomus tumour which was positive for DOG1 and synaptophysin, markers typically associated with GIST and neuroendocrine tumour respectively, diagnoses far more common than the final diagnosis highlighting a potential pitfall for pathologists. The otherwise characteristic morphological features of glomus tumour, as well as molecular detection of CARMN::NOTCH2 fusion enabled confident diagnosis but emphasises the importance of comprehensive morphological, immunohistochemistry, and molecular testing to avoid misdiagnosis, particularly given that glomus tumours are at least 100 times less frequent than GIST in the stomach. The excellent prognosis following complete surgical excision underscores the clinical significance of accurate diagnosis.

胃球瘤在临床和组织学上与胃肠道间质瘤（GIST）相似。我们报告了一例胃球瘤，DOG1和synaptophysin阳性，这两种标记分别与GIST和神经内分泌肿瘤相关，诊断远比最终诊断更常见，为病理学家突出了一个潜在的陷阱。肾小球瘤的其他特征形态特征以及CARMN::NOTCH2融合的分子检测使诊断更加可靠，但强调了综合形态学、免疫组织化学和分子检测的重要性，以避免误诊，特别是考虑到肾小球瘤在胃中的发生率至少比GIST低100倍。完全手术切除后的良好预后强调了准确诊断的临床意义。

引用次数: 0

Placental pathology: what not to miss 胎盘病理：什么不能错过

Diagnostic Histopathology

Pub Date : 2025-11-24 DOI: 10.1016/j.mpdhp.2025.10.005

Eleanor McTaggart, Sophie Stenton

The placenta has long been one of the most misunderstood and neglected areas in surgical pathology. Whilst some groups have at times questioned the importance of the placenta in the medical management of pregnancy, it is now generally accepted that a fully functioning placenta is required for successful pregnancy and there has been an uptick in interest for placental examination. This article shall not only evaluate the pathological findings of some of the more common placental disorders, but it shall provide an overview of the most up to date understanding of disease processes and offer some practical advice on sampling and grading these lesions. Herein we focus on the following common entities: maternal vascular malperfusion, fetal vascular malperfusion, acute chorioamnionitis and chronic villitis of unknown aetiology. The article shall also address the placental lesion chronic histiocytic intervillositis (CHI), as, whilst rare, it can have particularly devastating consequences. CHI is present in first trimester products of conception and may be encountered by general pathologists inexperienced in placental pathology.

长期以来，胎盘一直是外科病理学中最被误解和忽视的领域之一。虽然有些团体有时会质疑胎盘在妊娠医学管理中的重要性，但现在人们普遍认为，一个功能完整的胎盘是成功妊娠所必需的，并且对胎盘检查的兴趣有所上升。本文不仅将评估一些更常见的胎盘疾病的病理结果，而且还将提供对疾病过程的最新理解的概述，并就这些病变的抽样和分级提供一些实用的建议。在这里，我们重点关注以下常见实体：母体血管灌注不良，胎儿血管灌注不良，急性绒毛膜羊膜炎和病因不明的慢性绒毛炎。本文还将讨论胎盘病变慢性组织细胞绒毛间炎（CHI），因为，虽然罕见，它可以有特别毁灭性的后果。CHI存在于妊娠前三个月的产物中，可能会被没有胎盘病理学经验的普通病理学家遇到。

引用次数: 0

Hydatidiform moles and mimics: an up-to-date review on morphology and immunocytochemistry to aid the diagnosis 包虫体痣和模拟物：最新的形态学和免疫细胞化学综述，以帮助诊断

Diagnostic Histopathology

Pub Date : 2025-11-22 DOI: 10.1016/j.mpdhp.2025.10.006

Lesley Christie, Lesley M McMahon

Sporadic miscarriages occur in 10–20% of all pregnancies and affect one in four women. Products of conception (POC) are one of the commonest specimens submitted to the histopathology laboratory. The pathologist's role is to adequately sample, confirm a pregnancy and identify or exclude a molar pregnancy. This review summarises the genetic basis of the disease, key diagnostic features and ancillary investigations that can be employed to classify a gestation. Accurate and timely diagnosis of molar pregnancy ensures appropriate follow up and favourable outcomes.

零星流产发生在所有怀孕的10-20%，影响到四分之一的妇女。受孕产物（POC）是提交给组织病理学实验室的最常见的标本之一。病理学家的作用是充分取样，确认妊娠，并确定或排除臼齿妊娠。本文综述了该疾病的遗传基础，主要诊断特征和辅助调查，可用于分类妊娠。准确和及时的诊断可以确保适当的随访和良好的结果。

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Clear cell carcinoma arising in the background of atypical polypoid adenomyoma 不典型息肉样腺肌瘤背景下的透明细胞癌

Diagnostic Histopathology

Pub Date : 2025-11-16 DOI: 10.1016/j.mpdhp.2025.10.011

Anjana Kalladathil Sreenivasan, Limi Mohandas, David Milliken, Surabhi Agrawal

Atypical polypoid adenomyoma (APA) represents a rare benign endometrial lesion characterized by proliferative, atypical glands interspersed within smooth muscle bundles. It usually affects perimenopausal women and may manifest with abnormal uterine bleeding. Although most APAs behave benignly, malignant transformation – most commonly endometrioid carcinoma – has been reported in a small proportion of cases. Clear cell carcinoma arising in APA is exceptionally rare, with only isolated cases described in the literature. Cowden syndrome, an autosomal dominant disorder caused by germline mutations in the PTEN gene, confers increased lifetime risks of breast (25–50%), thyroid (3–10%), endometrial (5–10%) and colon cancer (13%). The coexistence of APA, clear cell carcinoma and Cowden syndrome is extremely rare.

非典型息肉样腺肌瘤（APA）是一种罕见的良性子宫内膜病变，其特征是平滑肌束内散布着增生的非典型腺体。它通常影响围绝经期妇女，可能表现为子宫异常出血。尽管大多数APAs表现为良性，但据报道，在一小部分病例中发生了恶性转化——最常见的是子宫内膜样癌。透明细胞癌发生在APA是非常罕见的，只有个别病例在文献中描述。考登综合征是一种常染色体显性遗传病，由PTEN基因的种系突变引起，终生患乳腺癌（25-50%）、甲状腺癌（3-10%）、子宫内膜癌（5-10%）和结肠癌（13%）的风险增加。APA、透明细胞癌和考登综合征共存极为罕见。

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The overlapping spectra of androgenetic/biparental mosaic/chimera and placental mesenchymal dysplasia 雄激素/双亲嵌合/嵌合与胎盘间充质发育不良的重叠谱

Diagnostic Histopathology

Pub Date : 2025-11-16 DOI: 10.1016/j.mpdhp.2025.10.009

Fabienne Allias, Lucie Gaillot-Durand

Gestational trophoblastic disease encompasses a range of pregnancy-related disorders including premalignant hydatidiform mole (HM), non-neoplastic tumor-like lesion and gestational trophoblastic neoplasia. Hydatidiform moles are characterized by specific morphological, immunohistochemical and genetic features. Extensive histopathological and genetic studies over the past decades have led to the description of new entities in the differential diagnosis of HM. Androgenetic/biparental mosaic/chimera (ABMC) is an abnormal pregnancy product containing a mixture of two genetically different lineages, one androgenetic and the other biparental, within individual villi. Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by a specific association of macroscopic and microscopic findings, and its pathogenesis is complex and heterogeneous, implying epigenetic or genetic alterations in two imprinted domains on chromosome 11p15.5. ABMC is most often an incidental finding discovered during pathological examination of molar specimen but can also be demonstrated in some placentas in the context of PMD. Although ABMC and PMD can have the same ultrasound appearance, morphologic features and discordant p57 expression, they differ in definition, pathogenesis, histopathological assessment, and clinical management.

An increasing number of pathologists are now familiar with HM, but few are aware of ABMC and PMD as separate diagnoses. This review of recent findings provides a practical approach to diagnosing ABMC and PMD.

妊娠滋养细胞疾病包括一系列妊娠相关疾病，包括癌前葡萄胎（HM）、非肿瘤性肿瘤样病变和妊娠滋养细胞瘤变。包体痣具有特殊的形态、免疫组织化学和遗传特征。在过去的几十年里，广泛的组织病理学和遗传学研究导致了对HM鉴别诊断中新实体的描述。雄激素/双亲嵌合体（ABMC）是一种异常妊娠产物，在单个绒毛中含有两个遗传上不同的谱系，一个是雄激素谱系，另一个是双亲谱系。胎盘间充质发育不良（PMD）是一种罕见的胎盘疾病，其特征是宏观和微观表现的特定关联，其发病机制是复杂和异质性的，可能是染色体11p15.5上两个印迹结构域的表观遗传或遗传改变。ABMC通常是在臼齿标本的病理检查中偶然发现的，但也可以在PMD的一些胎盘中证明。虽然ABMC和PMD可以具有相同的超声表现、形态学特征和不一致的p57表达，但它们在定义、发病机制、组织病理学评估和临床处理方面存在差异。越来越多的病理学家现在熟悉HM，但很少有人意识到ABMC和PMD是分开的诊断。本文综述了最近的研究结果，为诊断ABMC和PMD提供了一种实用的方法。

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引用次数: 0

Diagnoses where genotyping is critical in gestational trophoblastic disease and five important pitfalls 在妊娠滋养细胞疾病的诊断中，基因分型是至关重要的五个重要缺陷

Diagnostic Histopathology

Pub Date : 2025-11-15 DOI: 10.1016/j.mpdhp.2025.10.008

Geoffrey J Maher

Gestational trophoblastic disease (GTD) comprises molar pregnancies, abnormal pregnancies that are genetically distinct from other pregnancies, and gestational trophoblastic neoplasms (GTN) that are genetically different from non-gestational tumours. A variety of ancillary assays are available to support the diagnosis of gestational trophoblastic disease. Genotyping, a molecular assay that analyses genetic variation, is the most versatile assay for diagnosing gestational trophoblastic disease as it is informative for all types of molar pregnancy and trophoblastic tumours. This article highlights clinical contexts where genotyping, most commonly short tandem repeat (STR) genotyping, is particularly informative including determining the parental origin of DNA in triploid products of conception, diagnosing recurrent molar pregnancies and identifying the gestational origin and causative pregnancy for trophoblastic tumours. While certain pitfalls are associated with STR genotyping, these can be mitigated through careful integration of relevant clinical and pathological data and, when necessary, the application of complementary ancillary techniques.

妊娠滋养细胞疾病（GTD）包括磨牙妊娠、基因上不同于其他妊娠的异常妊娠，以及基因上不同于非妊娠肿瘤的妊娠滋养细胞肿瘤（GTN）。各种辅助分析可用于支持妊娠滋养细胞疾病的诊断。基因分型是一种分析遗传变异的分子分析方法，是诊断妊娠滋养层细胞疾病最通用的方法，因为它对所有类型的磨牙妊娠和滋养层细胞肿瘤都有帮助。这篇文章强调了基因分型的临床背景，最常见的是短串联重复序列（STR）基因分型，尤其具有信息性，包括确定受孕三倍体产物DNA的亲本来源，诊断复发性磨牙妊娠和确定滋养层肿瘤的妊娠起源和致病妊娠。虽然某些缺陷与STR基因分型相关，但可以通过仔细整合相关临床和病理数据，并在必要时应用辅助技术来减轻这些缺陷。

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A case of uterine mesonephric-like carcinosarcoma 子宫介肾样癌肉瘤1例

Diagnostic Histopathology

Pub Date : 2025-11-14 DOI: 10.1016/j.mpdhp.2025.10.010

Brodie Crooks, Daniel T Field, Yasin Dhonye, Katherine Quiohilag

A case of uterine mesonephric-like carcinosarcoma is reported with particular emphasis on morphology, immunohistochemistry and possible diagnostic pitfalls with other entities demonstrating mesonephric morphology in the female genital tract.

本文报告一例子宫中肾样癌肉瘤，特别强调形态学、免疫组织化学和可能的诊断缺陷，与其他实体显示女性生殖道中肾形态。

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