Seminars in Diagnostic Pathology最新文献

英文中文

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 : 2025-08-25 DOI: 10.1053/S0740-2570(25)00089-9

引用次数: 0

The expanding family of ALK-rearranged Mesenchymal Neoplasms alk重排间充质肿瘤的扩大家族。

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-08-06 DOI: 10.1016/j.semdp.2025.150947

Abbas Agaimy

The increasing use of next generation sequencing (NGS) technologies has resulted in a rapid increase in molecularly defined mesenchymal entities and enabled molecular characterization of existing phenotypically defined entities. These recent developments have expanded the clinicopathological spectrum of ALK-rearranged neoplasia, at same time highlighting a wide array of non-ALK fusions in many ALK immunoreactive neoplasms. This led to emergence of an “ALK vs. non-ALK fusion” concept among ALK immunoreactive neoplasms. The ALK fusion category includes morphologically defined entities (inflammatory myofibroblastic tumor and related neoplasms and epithelioid fibrous histiocytoma) as well as emerging fibro-/myxoid (“fibroblastic”) neoplasms of skin/ superficial soft tissue and vocal cords and ALK+ (mostly pediatric) histiocytoses. Lastly, diverse categories of unclassified ALK fusion neoplasms have been reported that display tyrosine kinase-like phenotype (CD34+/ S100+), foamy cell/ pseudolipogenic features and unclassified high-grade morphology. On the other hand, the “non-ALK fusion” category expands to include entities with regular/ frequent ALK reactivity (angiomatoid fibrous histiocytoma with EWSR1/FUS::CREB, spindle/ epithelioid cell rhabdomyosarcoma with EWSR1/FUS::TFCP2 and unclassified sarcomas with EWSR1/FUS::CREB fusions). The latter category has challenged the value of IHC and/ or FISH alone to confirm or rule out ALK alterations, underlining the pivotal role of NGS to verify the exact driver fusion. Under circumstances, identification of the exact fusion may have therapeutic and/ or prognostic implications. This overview discusses the main ALK fusion entities with emphasis on differential diagnosis.

随着下一代测序（NGS）技术的日益普及，分子间充质实体的数量迅速增加，并使现有表型定义实体的分子表征成为可能。这些最近的进展扩大了ALK重排瘤变的临床病理谱，同时强调了许多ALK免疫反应性肿瘤中广泛的非ALK融合。这导致在ALK免疫反应性肿瘤中出现了“ALK与非ALK融合”的概念。ALK融合类别包括形态学定义的实体（炎症性肌纤维母细胞瘤及相关肿瘤和上皮样纤维组织细胞瘤），以及皮肤/浅表软组织和声带新出现的纤维/黏液样（“纤维母细胞”）肿瘤和ALK+（主要是儿童）组织细胞增生。最后，不同类别的未分类ALK融合肿瘤已被报道显示酪氨酸激酶样表型（CD34+/ S100+），泡沫细胞/假脂质特征和未分类的高级别形态。另一方面，“非ALK融合”类别扩大到包括有规律/频繁ALK反应的实体（EWSR1/FUS::CREB的血管瘤样纤维组织细胞瘤，EWSR1/FUS::TFCP2的纺锤形/上皮样细胞rhabdomyosarcoma， EWSR1/FUS::CREB融合的未分类肉瘤）。后一种类型挑战了IHC和/或FISH单独确认或排除ALK改变的价值，强调了NGS在验证确切驱动融合方面的关键作用。在某些情况下，确定确切的融合可能具有治疗和/或预后意义。这篇综述讨论了主要的ALK融合实体，重点是鉴别诊断。

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引用次数: 0

Histopathological and genetic landscape of pancreatic ductal adenocarcinoma and its variants 胰腺导管腺癌及其变异的组织病理学和遗传学研究

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-08-05 DOI: 10.1016/j.semdp.2025.150948

Nicholas J. Caldwell, M. Lisa Zhang

Pancreatic ductal adenocarcinoma (PDAC) remains a deadly disease where proper pathologic evaluation ensures appropriate clinical management. This review article summarizes literature regarding problematic, uncommon, and new challenges in PDAC evaluation and highlights recent molecular advancements. Microscopically, the morphologies of PDAC are diverse, and certain features, such as foamy gland morphology, large duct pattern of invasion, cancerization of ducts, and neoadjuvant therapy effects, are important to recognize and distinguish from mimickers. Immunohistochemistry can be useful in select settings for distinguishing malignant from benign pancreatic epithelium. Morphologic subtypes of PDAC have their own distinct clinical, histologic, and molecular features that provide insight into disease mechanisms and therapy. Finally, therapies targeting molecular alterations can significantly impact some patients, and molecular subtyping of PDAC has rapidly advanced in the last decade through detailed transcriptomic evaluation.

胰腺导管腺癌（PDAC）仍然是一种致命的疾病，适当的病理评估确保适当的临床管理。这篇综述文章总结了关于PDAC评估中存在的问题、不常见和新的挑战的文献，并强调了最近的分子进展。显微镜下，PDAC的形态多样，某些特征，如泡沫腺体形态、大导管浸润模式、导管癌变和新辅助治疗效果，对识别和区分模仿者很重要。免疫组织化学可用于区分良性和恶性胰腺上皮。PDAC的形态亚型有其独特的临床、组织学和分子特征，为了解疾病机制和治疗提供了依据。最后，靶向分子改变的治疗可以显著影响一些患者，通过详细的转录组学评估，PDAC的分子分型在过去十年中迅速发展。

引用次数: 0

Head and neck xanthogranulomatous epithelial tumors/keratin-positive giant cell-rich tumors 头颈部黄色肉芽肿性上皮肿瘤/富含角蛋白阳性巨细胞肿瘤

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-07-29 DOI: 10.1016/j.semdp.2025.150943

Rumeal D. Whaley

Xanthogranulomatous epithelial tumor (XGET) and keratin-positive giant cell–rich tumor (KPGCT) represent ends along the spectrum of a single neoplastic entity, with overlapping clinical, morphologic, immunohistochemical, and genetic findings (XGET/KPGCT). Morphologically, they are characterized by a highly variable admixture of xanthomatous histiocytes, Touton-like giant cells, osteoclast-like giant cells, and interspersed keratin-positive cells, which may be visible on routinely stained slides as clusters of eosinophilic epithelioid cells or require immunohistochemistry for detection. Both XGET and KPGCT harbor rearrangements of HMGA2, most often with NCOR2, supporting their unitary nature. They most often occur in young adult females, may involve either soft tissue or osseous locations, and behave as mesenchymal tumors of borderline malignancy, with risk for local recurrence but little metastatic risk. Approximately 61 cases have been reported in the English literature, including 13 cases in the head and neck region. This review will summarize the known information on these neoplasms across anatomic sites and highlight diagnostic challenges unique to the head and neck region.

黄色肉芽肿上皮肿瘤（XGET）和富含角蛋白阳性巨细胞肿瘤（KPGCT）代表了单一肿瘤实体谱的两端，具有重叠的临床、形态学、免疫组织化学和遗传学发现（XGET/KPGCT）。形态学上，它们的特征是黄瘤组织细胞、图顿样巨细胞、破骨细胞样巨细胞和散布的角蛋白阳性细胞的高度可变混合物，在常规染色玻片上可以看到嗜酸性上皮样细胞簇，或者需要免疫组织化学检测。XGET和KPGCT都含有HMGA2的重排，最常见的是NCOR2，这支持了它们的单一性。它们最常见于年轻成年女性，可累及软组织或骨骼部位，表现为交界性恶性间充质肿瘤，有局部复发的风险，但转移风险很小。在英语文献中报道了大约61例，其中头颈部有13例。这篇综述将总结这些肿瘤在解剖部位的已知信息，并强调头颈部独特的诊断挑战。

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引用次数: 0

Flow cytometry in the diagnosis and prognosis of multiple myeloma 流式细胞术在多发性骨髓瘤诊断和预后中的应用

IF 3.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-07-25 DOI: 10.1016/j.semdp.2025.150942

Adam C. Seegmiller

Multiparameter flow cytometry is an effective tool in the diagnosis and monitoring of plasma cell neoplasms such as multiple myeloma. This review focuses on how flow cytometry can be used to identify and characterize plasma cells. It discusses the immunophenotype of normal plasma cells and how this can be used to distinguish them from neoplastic plasma cells. The prognostic impact of particular immunophenotypic aberrancies is reviewed. Finally, it describes approaches to post-treatment monitoring myeloma by flow cytometry, including measurable residual disease detection and its impact on disease outcomes.

多参数流式细胞术是诊断和监测多发性骨髓瘤等浆细胞肿瘤的有效工具。本文综述了流式细胞术如何用于鉴定和表征浆细胞。它讨论了正常浆细胞的免疫表型，以及如何用它来区分它们与肿瘤浆细胞。本文回顾了特定免疫表型异常对预后的影响。最后，它描述了通过流式细胞术治疗后监测骨髓瘤的方法，包括可测量的残留疾病检测及其对疾病结局的影响。

引用次数: 0

NUT-rearranged sarcoma NUT-rearranged肉瘤

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-06-26 DOI: 10.1016/j.semdp.2025.150941

Sintawat Wangsiricharoen , Jeanne M. Meis , Wendong Yu

NUT-rearranged sarcoma is an emerging group of soft tissue sarcomas defined by NUT rearrangement. It is distinct from NUT carcinoma. These sarcomas show a predilection for somatic soft tissue, the thoracic region, the gastrointestinal tract, and body cavities, and affect a wide age range. Histologically, they display one or multiple growth patterns within the tumor, including fibrosarcomatous, round cell, epithelioid/rhabdoid, and hyalinized/nested patterns. Tumor cells invariably express NUT (with the exception of tumors harboring NUTM2) and may have aberrant expression of other markers. Molecularly, NUT-rearranged sarcoma typically involves genes in the MAD transcription family. Those NUT-rearranged sarcomas seem to have distinct clinical and pathologic features. While BET inhibitors are effective in NUT carcinoma, they may not be effective in NUT-rearranged sarcoma.

NUT重排肉瘤是一种新兴的以NUT重排为特征的软组织肉瘤。它不同于NUT癌。这些肉瘤多发于躯体软组织、胸部、胃肠道和体腔，影响年龄范围广。组织学上，它们在肿瘤内显示一种或多种生长模式，包括纤维肉瘤、圆细胞、上皮样/横纹肌样和透明化/巢状模式。肿瘤细胞总是表达NUT（除了含有NUTM2的肿瘤），并且可能有其他标记物的异常表达。从分子上讲，nut重排肉瘤通常涉及MAD转录家族中的基因。这些nut重排肉瘤似乎具有明显的临床和病理特征。虽然BET抑制剂对NUT癌有效，但对NUT重排肉瘤可能无效。

引用次数: 0

Keratocystoma: Molecular insights and diagnostic challenges in a rare salivary gland tumor 角化细胞瘤：一种罕见唾液腺肿瘤的分子见解和诊断挑战

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-06-24 DOI: 10.1016/j.semdp.2025.150940

Yoshitaka Utsumi , Masato Nakaguro , Justin A. Bishop , Toshitaka Nagao

Keratosytoma is a rare, benign salivary gland tumor designated as a new entity by Nagao et al. in 2002. Recently, the discovery of RUNX2 gene rearrangement as a characteristic genetic alteration has established its classification as a distinct neoplasm, solidifying the inclusion of keratocystoma in the 5th edition of the WHO classification of Head and Neck Tumors. Clinically, keratocystoma occurs across a broad age range but is most prevalent among younger individuals, with no significant sex predilection. It typically presents as a slow-growing parotid mass. Histologically, the tumor is characterized by a multilocular cystic lesion lined by stratified squamous epithelium without atypia and lacks a granular cell layer. In addition to cyst formation, nests of squamous epithelium enclosed within fibrous stroma are also observed, sometimes along with salivary ducts with squamous metaplasia-like processes. Immunohistochemically, similar to normal squamous epithelium, tumor cells are positive for p63 and negative for myoepithelial markers, including SMA, calponin, and S-100. The Ki-67 labeling index is low, and p53 expression exhibits a wild-type pattern. The differential diagnosis encompasses a wide spectrum of conditions, ranging from non-neoplastic lesions to benign and malignant tumors composed of squamous epithelium. These include squamous cell carcinoma, mucoepidermoid carcinoma, metaplastic Warthin tumor, pleomorphic adenoma with squamous differentiation, dermoid cyst, epidermal cyst/cholesteatoma, and necrotizing sialometaplasia. Although a detailed histomorphological examination is essential for the diagnosis, testing for RUNX2 gene rearrangement is expected to play a pivotal role in the differential diagnosis of keratocystoma. More cases are necessary to better understand this rare salivary gland tumor.

角化瘤是一种罕见的良性唾液腺肿瘤，由Nagao等人于2002年指定为一种新的实体。最近，RUNX2基因重排作为一种特征性遗传改变的发现，确立了其作为一种独特肿瘤的分类，巩固了角化细胞瘤在第5版WHO头颈部肿瘤分类中的纳入。临床上，角化细胞瘤发生在广泛的年龄范围内，但在年轻人中最普遍，没有明显的性别偏好。它通常表现为生长缓慢的腮腺肿块。组织学上，肿瘤的特征是多室囊性病变，内衬层状鳞状上皮，无异型性，缺乏颗粒细胞层。除了囊肿形成外，纤维间质内也可观察到鳞状上皮巢，有时伴随有鳞状化生样过程的唾管。免疫组织化学，与正常鳞状上皮相似，肿瘤细胞p63阳性，肌上皮标记物（包括SMA、钙钙蛋白和S-100）阴性。Ki-67标记指数低，p53表达呈野生型。鉴别诊断包括广泛的条件，从非肿瘤性病变到由鳞状上皮组成的良性和恶性肿瘤。包括鳞状细胞癌、黏液表皮样癌、化生沃辛瘤、鳞状分化多形性腺瘤、皮样囊肿、表皮囊肿/胆脂瘤和坏死性唾液化生。虽然详细的组织形态学检查对诊断至关重要，但RUNX2基因重排检测有望在角化囊瘤的鉴别诊断中发挥关键作用。需要更多的病例来更好地了解这种罕见的唾液腺肿瘤。

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引用次数: 0

Acral fibrochondromyxoid tumor – A review of the literature 肢端纤维软骨粘液样瘤-文献综述

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-06-17 DOI: 10.1016/j.semdp.2025.150938

Carina A. Dehner , John S.A. Chrisinger

引用次数: 0

Keratin-positive giant cell-rich tumor review 角蛋白阳性富巨细胞肿瘤综述

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-06-12 DOI: 10.1016/j.semdp.2025.150939

John S.A. Chrisinger , Carina A. Dehner

Keratin-positive giant cell-rich tumor is a recently described mesenchymal neoplasm, which occurs predominantly in young women and often arises in the subcutis or bone. Histologically, tumors vary from giant cell tumor-like to xanthogranulomatous, or a mixture of both patterns. Tumors with predominantly xanthogranulomatous infiltrate and scattered mononuclear cells with bright eosinophilic cytoplasm were originally described as xanthogranulomatous epithelial tumor, a lesion which was subsequently found to be on a morphologic spectrum with keratin-positive giant cell-rich tumor. Most cases express keratin, characteristically with demonstration of dendritic-like cytoplasmic projections, and harbor HMGA2::NCOR2 fusions. High level expression of CSF1, in the absence of CSF1 gene alterations, is also frequently observed. Data on the clinical behavior of keratin-positive giant cell-rich tumor is limited. The course is often indolent, however rare cases are aggressive.

角蛋白阳性巨细胞瘤是最近发现的一种间质肿瘤，主要发生于年轻女性，常发生于皮下或骨。组织学上，肿瘤从巨细胞瘤样到黄色肉芽肿，或两种类型的混合。以黄色肉芽肿性浸润和分散的单核细胞为主，细胞质嗜酸性明亮的肿瘤最初被描述为黄色肉芽肿性上皮肿瘤，这种病变随后被发现在形态学谱上与富含角蛋白阳性巨细胞的肿瘤一致。大多数病例表达角蛋白，以树突样细胞质突出为特征，并伴有HMGA2::NCOR2融合。在没有CSF1基因改变的情况下，也经常观察到CSF1的高水平表达。有关角蛋白阳性巨细胞富肿瘤临床行为的资料有限。病程通常是缓慢的，但罕见的病例是侵袭性的。

引用次数: 0

Primary cutaneous dedifferentiated and undifferentiated melanoma 原发性皮肤去分化和未分化黑色素瘤

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Seminars in Diagnostic Pathology

Pub Date : 2025-06-11 DOI: 10.1016/j.semdp.2025.150937

Ingrid Ferreira , Thomas Brenn

The diagnosis of melanoma remains challenging due to its wide clinical, histopathologic and molecular spectrum. While melanomas typically display a melanocytic phenotype by immunohistochemistry, staining for the conventional markers of melanocytic differentiation (e.g. S100, SOX10, Melan A and HMB45) may be absent in rare instances. This phenomenon is most frequently encountered in the metastatic setting but is increasingly recognized also in primary cutaneous and mucosal melanomas. These tumors are referred to as dedifferentiated melanoma when arising in the background of a conventional melanoma precursor, either morphologically or by immunohistochemistry. Undifferentiated melanomas pose a particular diagnostic challenge as they present in the absence of a recognizable melanoma precursor component. This manuscript outlines the clinical, histopathological and molecular features of these rare tumors to facilitate recognition and allow for more confident diagnosis.

由于其广泛的临床、组织病理学和分子光谱，黑色素瘤的诊断仍然具有挑战性。虽然黑素瘤通过免疫组织化学通常表现为黑素细胞表型，但在罕见的情况下，黑素细胞分化的常规标记物（如S100、SOX10、Melan a和HMB45）可能没有染色。这种现象最常见于转移性黑色素瘤，但也越来越多地被认为是原发性皮肤和粘膜黑色素瘤。当这些肿瘤出现在传统黑色素瘤前体的背景下，无论是形态学上还是免疫组织化学上，都被称为去分化黑色素瘤。未分化黑色素瘤提出了一个特殊的诊断挑战，因为他们在缺乏可识别的黑色素瘤前体成分。本文概述了这些罕见肿瘤的临床，组织病理学和分子特征，以促进识别，并允许更自信的诊断。

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全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

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