Seminars in Diagnostic Pathology最新文献

英文中文

Cytology and small biopsy diagnosis of pancreatic ductal adenocarcinoma. 胰腺导管腺癌的细胞学及小活检诊断。

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-30 DOI: 10.1016/j.semdp.2026.150992

Maria Pimenova, Matthew W Rosenbaum

Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths, accounting for over 90 % of pancreatic cancer cases. Accurate diagnosis is crucial, but often challenging. It typically relies on minimally invasive procedures, such as endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) and small biopsy samples. These small biopsies may be the only tissue diagnosis made before embarking on neoadjuvant therapy, major surgery, or transition to comfort care, depending on clinicoradiologic factors. This paper reviews important diagnostic strategies and criteria for cytologic and small biopsy samples, highlighting cytomorphologic characteristics, histologic patterns, and the role of immunohistochemical and molecular diagnostics. PDAC cytology often shows hypercellular aspirates with disorganized glandular fragments, significant nuclear atypia, prominent nucleoli, and a necrotic background. In contrast, small biopsy samples typically reveal invasive glandular structures surrounded by desmoplastic stroma and nuclear pleomorphism. However, biopsies are often scant and there are a variety of difficult histologic subtypes and mimics that complicate these cases. Although there is a lack of sensitive or specific markers for PDAC, immunohistochemical markers, such as P53, and SMAD4, can be useful for supporting a diagnosis of PDAC over chronic pancreatitis/tumor mimics. Molecular alterations in KRAS, TP53, BRCA1/2, and others may aid in diagnosis, prognostication, and the selection of targeted therapeutic options. By systematically integrating clinicoradiologic, cytological, histological, immunophenotypic, and molecular data, pathologists can effectively differentiate PDAC from benign or reactive lesions and metastatic neoplasms, ensuring accurate diagnoses that are essential for optimal patient management.

胰腺导管腺癌（PDAC）是癌症相关死亡的主要原因，占胰腺癌病例的90%以上。准确的诊断至关重要，但往往具有挑战性。它通常依赖于微创手术，如内镜超声引导下的细针穿刺（EUS-FNA）和小活检样本。根据临床放射学因素，这些小活检可能是在开始新辅助治疗、大手术或过渡到舒适护理之前进行的唯一组织诊断。本文回顾了细胞学和小活检样本的重要诊断策略和标准，强调了细胞形态学特征，组织学模式，以及免疫组织化学和分子诊断的作用。PDAC细胞学常显示腺碎片组织紊乱的高细胞抽吸，明显的核异型性，突出的核核和坏死背景。相比之下，小的活检样本通常显示浸润性腺体结构，周围有间质增生和核多形性。然而，活检往往缺乏，有各种困难的组织学亚型和模拟，使这些病例复杂化。尽管缺乏PDAC的敏感或特异性标记物，但免疫组织化学标记物，如P53和SMAD4，可用于支持慢性胰腺炎/肿瘤模拟的PDAC诊断。KRAS、TP53、BRCA1/2和其他基因的分子改变可能有助于诊断、预测和选择靶向治疗方案。通过系统地整合临床放射学、细胞学、组织学、免疫表型和分子数据，病理学家可以有效地将PDAC与良性或反应性病变和转移性肿瘤区分开来，确保准确诊断，这对优化患者管理至关重要。

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引用次数: 0

Histologic mimics of urothelial carcinoma. 尿路上皮癌的组织学模拟。

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-29 DOI: 10.1016/j.semdp.2026.150993

Douglas Jian-Xian Wu, Emily Chan

Conventional urothelial carcinoma in its invasive form has a relatively nonspecific morphologic description, frequently described as nests of epithelial cells containing hyperchromatic and pleomorphic nuclei, with readily identified mitotic figures, and moderate amounts of eosinophilic cytoplasm, infiltrating as irregular nests, single cells or solid sheets. The presence of a noninvasive papillary or flat component (urothelial carcinoma in situ), combined with the clinical presentation of a urinary bladder mass, typically helps to make the diagnosis. However, morphologic mimics of urothelial carcinoma are not uncommon and they can mimic both invasive and noninvasive forms, range from benign to malignant, and therefore pose significant diagnostic pitfalls that have profound effect on a patient's treatment planning and prognostic implications. Herein, we discuss some of the diagnostic mimickers of urothelial carcinoma and the clinical, immunohistochemical and molecular approaches that can prove useful for making the correct diagnosis. We highlight both the most common and the most difficult diagnostic dilemmas and pitfalls that we have seen in our clinical practice.

传统的侵袭型尿路上皮癌具有相对非特异性的形态学描述，通常被描述为上皮细胞巢，含有深染和多形性细胞核，具有易于识别的有丝分裂图像，以及适量的嗜酸性细胞质，浸润为不规则巢，单细胞或实片状。非侵袭性乳头状或扁平成分（尿路上皮原位癌）的出现，结合膀胱肿块的临床表现，通常有助于做出诊断。然而，尿路上皮癌的形态模拟并不罕见，它们可以模拟侵袭性和非侵袭性形式，范围从良性到恶性，因此构成了重大的诊断陷阱，对患者的治疗计划和预后影响深远。在此，我们讨论了尿路上皮癌的一些诊断模拟物以及临床、免疫组织化学和分子方法，这些方法可以证明对做出正确的诊断是有用的。我们强调最常见和最困难的诊断困境和陷阱，我们已经看到在我们的临床实践。

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引用次数: 0

Pleomorphic adenoma: A comprehensive review. 多形性腺瘤：综述。

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-29 DOI: 10.1016/j.semdp.2026.150991

Wilson Duplessis, Jason K Wasserman

引用次数: 0

Molecular Advances in Gastrointestinal Pathology 胃肠病理学的分子进展

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-24 DOI: 10.1016/j.semdp.2026.150990

Avash Das , Paolo M. Chetta , M. Lisa Zhang

Gastrointestinal adenocarcinomas, including colorectal cancer (CRC) and gastroesophageal junction (GEJ) carcinoma, represent a significant global health burden. Recent advances in large-scale multi-omics profiling, particularly through The Cancer Genome Atlas (TCGA), have revealed the genetic heterogeneity and underlying biology of these tumors. Integrating molecular biomarkers with histopathology into routine practice guides classification, prognosis, and targeted interventions. In CRC, hypermutated subtypes—defined by microsatellite instability (MSI) or polymerase epsilon (POLE) mutations—demonstrate high tumor mutational burden (TMB) and robust response to immune checkpoint blockade. Alternatively, non-hypermutated tumors, driven by chromosomal instability, harbor recurrent alterations in RAS, BRAF, HER2, and NTRK, enabling biomarker-based stratification for targeted therapies. Exploratory markers such as PIK3CA mutations and TMB are being investigated, although their predictive value in microsatellite-stable CRC remains limited. Similarly, GEJ carcinomas can be classified into four molecular subgroups: Epstein–Barr virus (EBV)–associated, MSI, chromosomal instability, and genomically stable. Each subtype is defined by characteristic biology and carries distinct therapeutic implications, with actionable targets including HER2 amplification, PD-L1 expression, and claudin 18.2 (CLDN18.2). Established clinical biomarkers such as MSI, PD-L1, and HER2 are standard in precision oncology, while emerging markers like CLDN18.2, TMB, and KRAS G12C, extend the therapeutic landscape. Combining biomarker-driven immunotherapy and targeted approaches such as PD-1 blockade in MSI-H or EBV-positive tumors, HER2-directed therapy, and CLDN18.2 inhibition, has demonstrated a paradigm shift in the clinical management. This review highlights a pathologist-centered perspective on molecularly defined subgroups, actionable biomarkers, and evolving therapeutic paradigms in CRC and GEJ carcinoma, advancing precision oncology.

胃肠道腺癌，包括结直肠癌（CRC）和胃食管交界处癌（GEJ），是一个重大的全球健康负担。最近大规模多组学分析的进展，特别是通过癌症基因组图谱（TCGA），揭示了这些肿瘤的遗传异质性和潜在生物学。将分子生物标志物与组织病理学结合到常规实践中，指导分类、预后和有针对性的干预。在结直肠癌中，由微卫星不稳定性（MSI）或聚合酶epsilon （POLE）突变定义的超突变亚型表现出高肿瘤突变负担（TMB）和对免疫检查点阻断的强烈反应。另外，由染色体不稳定性驱动的非高突变肿瘤，在RAS、BRAF、HER2和NTRK中存在复发性改变，这使得基于生物标志物的靶向治疗分层成为可能。探索性标记如PIK3CA突变和TMB正在研究中，尽管它们在微卫星稳定CRC中的预测价值仍然有限。同样，GEJ癌可分为四个分子亚群：EBV相关、MSI、染色体不稳定性和基因组稳定性。每种亚型都由特征生物学定义，并具有不同的治疗意义，可操作的靶点包括HER2扩增，PD-L1表达和claudin 18.2 （CLDN18.2）。已建立的临床生物标志物，如MSI， PD-L1和HER2是精确肿瘤学的标准，而新兴标志物，如CLDN18.2， TMB和KRAS G12C，扩展了治疗领域。结合生物标志物驱动的免疫治疗和靶向方法，如阻断MSI-H或ebv阳性肿瘤的PD-1， her2导向治疗和CLDN18.2抑制，已经证明了临床管理的范式转变。这篇综述强调了以病理学为中心的观点，分子定义的亚群，可操作的生物标志物，以及CRC和GEJ癌不断发展的治疗范式，推进精确肿瘤学。

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Diagnostic dilemmas in pulmonary mesenchymal tumors 肺间充质肿瘤的诊断困境

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-01 DOI: 10.1016/j.semdp.2025.150980

Annikka Weissferdt

Tumors of mesenchymal origin only rarely arise in the bronchopulmonary system and range from indolent neoplasms to highly malignant sarcomas. While many of these tumors occur more frequently outside of the thoracic cavity, there are some mesenchymal neoplasms that are unique to the lung, such as primary pulmonary myxoid sarcoma or clear cell stromal tumor of the lung. The diagnosis of these unusual neoplasms can be difficult, especially when dealing with small biopsy material or separating sarcomas from non-mesenchymal tumors with sarcomatoid morphology. Likewise, a metastatic process from a soft tissue primary should always be excluded before a diagnosis of primary pulmonary sarcoma can be confirmed. Fortunately, the increasing identification of distinct molecular aberrations in soft tissue, as well as pulmonary sarcomas, adds a significant diagnostic tool in this context. Since the treatment and prognosis for patients with pulmonary sarcomas varies greatly from those with bronchogenic carcinomas, comprehensive evaluation, to include immunohistochemical and molecular analysis, is not only essential for correct diagnosis, but also to predict patient outcome.

间充质肿瘤很少出现在支气管肺系统，范围从惰性肿瘤到高度恶性肉瘤。虽然这些肿瘤大多发生在胸腔外，但也有一些肺特有的间充质肿瘤，如原发性肺粘液样肉瘤或肺透明细胞间质瘤。这些不寻常肿瘤的诊断可能很困难，特别是当处理小活检材料或将肉瘤与具有肉瘤样形态的非间充质肿瘤分开时。同样，在确认原发性肺肉瘤的诊断之前，应始终排除软组织原发性转移过程。幸运的是，软组织和肺肉瘤中不同分子畸变的鉴定日益增加，在这方面增加了一个重要的诊断工具。由于肺肉瘤患者的治疗和预后与支气管源性癌差异很大，因此包括免疫组织化学和分子分析在内的综合评估不仅是正确诊断的必要条件，也是预测患者预后的必要条件。

引用次数: 0

MASTHEAD (p/u from previous issue) 报头（p/u从上一期）

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-01 DOI: 10.1053/S0740-2570(26)00002-X

引用次数: 0

EDITORIAL BOARD (p/u from previous issue) 编辑委员会（p/u自上期）

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-01 DOI: 10.1053/S0740-2570(26)00003-1

引用次数: 0

TABLE OF CONTENTS (p/u from previous issue w/updates) 目录表（p/u来自上一期，更新）

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-01 DOI: 10.1053/S0740-2570(26)00004-3

引用次数: 0

COVER (PMS 180&K) (p/u from previous issue w/updates) 封面（PMS 180&K）（p/u来自上一期，并有更新）

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2026-01-01 DOI: 10.1053/S0740-2570(26)00001-8

引用次数: 0

Paravertebral Pseudoendocrine Sarcoma 椎旁假内分泌肉瘤

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-12-15 DOI: 10.1016/j.semdp.2025.150977

Julie C. Fanburg-Smith, Zachary Corey, Jessica D. Smith

Background

Pseudoendocrine sarcoma is a recently described rare, epithelioid neuroendocrine-like soft tissue neoplasm with a distinctive phenotype. Predominantly affecting older adults in paraspinal locations, including posterior head and cervical paraspinal neck, this tumor has distinctive morphologic, phenotypic and molecular features that generally distinguish it from other mesenchymal, neuroendocrine, meningothelial, or epithelial tumors.

Materials and Methods

A comprehensive review of the literature was conducted, focusing on clinical information, histopathological findings, immunohistochemical profiles, and molecular characteristics of pseudoendocrine sarcoma. Data was analyzed from 5 case reports and 2 series published between 2022 and 2025, and compared with differential diagnostic entities, for an analysis and update of pseudoendocrine sarcoma.

Results

Including the seminal publication, with the novelty of this classification, 40 cases of pseudoendocrine sarcoma have been reported, with 21 cases involving the head and neck region.

Clinically

Pseudoendocrine sarcoma presents as a deep-seated, sub-fascial soft tissue tumor, predominantly well delineated, with reports of secondary infiltration of bone, particularly in vertebral locations. Reported radiologic imaging reveals a hypoechoic mass with prominent vascularity on ultrasound and radiographic imaging studies. Histologically, pseudoendocrine sarcoma exhibits a neuroendocrine-like lobular or nested growth pattern of monotonous epithelioid to ovoid cells with well-dispersed, speckled chromatin. By immunohistochemistry, however, the tumor is notably positive for nuclear β-catenin and lacks neuroendocrine markers including INSM1, synaptophysin, and chromogranin. In addition, epithelial markers such as keratin, Cam 5.2, and EMA are also negative. By molecular methods, pseudoendocrine sarcoma harbors specific recurrent CTNNB1 hotspot mutations, unique to this entity that separates it from other tumors with this point mutation.

Conclusions

Distinguishing pseudoendocrine sarcoma from other benign and malignant entities is crucial, given its bland appearance and designation as an intermediate grade sarcoma in the upcoming 6th edition of the World Health Organization Classification of Bone and Soft Tissue Tumours, with a propensity for destructive local recurrence and metastasis to lung and rarely to lymph nodes (by direct extension) or liver. Awareness of its distinct clinical, histopathological, immunohistochemical, and molecular features is essential for accurate diagnosis and appropriate management.

假内分泌肉瘤是一种罕见的上皮样神经内分泌样软组织肿瘤，具有独特的表型。该肿瘤主要影响脊柱旁位置的老年人，包括后脑和颈椎管旁颈部，具有独特的形态、表型和分子特征，通常将其与其他间质、神经内分泌、脑膜上皮或上皮肿瘤区分开来。材料与方法对假内分泌肉瘤的临床资料、组织病理学表现、免疫组织化学特征和分子特征进行全面的文献综述。分析了2022 - 2025年间发表的5例病例报告和2个系列的数据，并与鉴别诊断实体进行了比较，对假内分泌肉瘤进行了分析和更新。结果包括这篇开创性的论文在内，假性内分泌肉瘤已报道40例，其中21例累及头颈部。临床上，假内分泌肉瘤表现为一种深部、筋膜下软组织肿瘤，主要表现为轮廓清晰，有继发性骨浸润的报道，特别是在椎体部位。报告的放射成像显示超声和放射成像显示一个低回声肿块，有明显的血管。组织学上，假内分泌肉瘤表现为神经内分泌样小叶或巢状生长模式，由单一上皮样细胞到卵形细胞组成，染色质分散，斑点状。然而，通过免疫组化，肿瘤细胞核β-连环蛋白明显阳性，缺乏神经内分泌标志物，包括INSM1、突触素和嗜铬粒蛋白。此外，上皮标志物如角蛋白、Cam 5.2和EMA也呈阴性。通过分子方法，假内分泌肉瘤具有特异性复发CTNNB1热点突变，这是该实体所特有的，将其与其他具有该点突变的肿瘤区分开来。结论：将假内分泌肉瘤与其他良性和恶性肿瘤区分开来是至关重要的，因为在即将出版的第6版世界卫生组织骨和软组织肿瘤分类中，它的外观平淡无奇，被指定为中级肉瘤，具有破坏性局部复发和转移到肺的倾向，很少转移到淋巴结（通过直接延伸）或肝脏。了解其独特的临床、组织病理学、免疫组织化学和分子特征对于准确诊断和适当治疗至关重要。

{"title":"Paravertebral Pseudoendocrine Sarcoma","authors":"Julie C. Fanburg-Smith, Zachary Corey, Jessica D. Smith","doi":"10.1016/j.semdp.2025.150977","DOIUrl":"10.1016/j.semdp.2025.150977","url":null,"abstract":"<div><h3>Background</h3><div>Pseudoendocrine sarcoma is a recently described rare, epithelioid neuroendocrine-like soft tissue neoplasm with a distinctive phenotype. Predominantly affecting older adults in paraspinal locations, including posterior head and cervical paraspinal neck, this tumor has distinctive morphologic, phenotypic and molecular features that generally distinguish it from other mesenchymal, neuroendocrine, meningothelial, or epithelial tumors.</div></div><div><h3>Materials and Methods</h3><div>A comprehensive review of the literature was conducted, focusing on clinical information, histopathological findings, immunohistochemical profiles, and molecular characteristics of pseudoendocrine sarcoma. Data was analyzed from 5 case reports and 2 series published between 2022 and 2025, and compared with differential diagnostic entities, for an analysis and update of pseudoendocrine sarcoma.</div></div><div><h3>Results</h3><div>Including the seminal publication, with the novelty of this classification, 40 cases of pseudoendocrine sarcoma have been reported, with 21 cases involving the head and neck region.</div></div><div><h3>Clinically</h3><div>Pseudoendocrine sarcoma presents as a deep-seated, sub-fascial soft tissue tumor, predominantly well delineated, with reports of secondary infiltration of bone, particularly in vertebral locations. Reported radiologic imaging reveals a hypoechoic mass with prominent vascularity on ultrasound and radiographic imaging studies. Histologically, pseudoendocrine sarcoma exhibits a neuroendocrine-like lobular or nested growth pattern of monotonous epithelioid to ovoid cells with well-dispersed, speckled chromatin. By immunohistochemistry, however, the tumor is notably positive for nuclear β-catenin and lacks neuroendocrine markers including INSM1, synaptophysin, and chromogranin. In addition, epithelial markers such as keratin, Cam 5.2, and EMA are also negative. By molecular methods, pseudoendocrine sarcoma harbors specific recurrent <em>CTNNB1</em> hotspot mutations, unique to this entity that separates it from other tumors with this point mutation.</div></div><div><h3>Conclusions</h3><div>Distinguishing pseudoendocrine sarcoma from other benign and malignant entities is crucial, given its bland appearance and designation as an intermediate grade sarcoma in the upcoming 6th edition of the World Health Organization Classification of Bone and Soft Tissue Tumours, with a propensity for destructive local recurrence and metastasis to lung and rarely to lymph nodes (by direct extension) or liver. Awareness of its distinct clinical, histopathological, immunohistochemical, and molecular features is essential for accurate diagnosis and appropriate management.</div></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"43 1","pages":"Article 150977"},"PeriodicalIF":3.5,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145839966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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