Human pathology最新文献

{"title":"Aberrant expression in lymphoma, a diagnostic pitfall","authors":"Joo Y. Song ,&nbsp;Zenggang Pan","doi":"10.1016/j.humpath.2024.105706","DOIUrl":"10.1016/j.humpath.2024.105706","url":null,"abstract":"<div><div>One of the major difficulties in practical hematopathology is to accurately assign cell lineage and thus ensure proper classification of lymphomas. The lineage-specific markers of lymphoma are detected by immunohistochemistry or flow cytometry immunophenotypic methods. However, aberrant gain or loss of these markers is occasionally encountered during daily practice, which often creates diagnostic challenges. In addition, lymphoma may aberrantly express non-hematopoietic markers, and vice versa. This review article provides an overview of aberrant gain of expression of lineage-associated antigens in mature lymphoid neoplasms, including recommendations to avoid diagnostic pitfalls and ultimately to reach accurate diagnoses.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105706"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Marginal zone lymphoma of extranodal sites: A review with an emphasis on diagnostic pitfalls and differential diagnosis with reactive conditions","authors":"Roman Segura-Rivera ,&nbsp;Sergio Pina-Oviedo","doi":"10.1016/j.humpath.2024.105683","DOIUrl":"10.1016/j.humpath.2024.105683","url":null,"abstract":"<div><div>Marginal zone lymphoma of the mucosa-associated lymphoid tissue (MALT lymphoma) represents 8% of all B-cell lymphomas and it is the most common small B-cell lymphoma arising at extranodal sites. The gold-standard test to establish a diagnosis of MALT lymphoma remains histopathologic analysis with the aid of immunohistochemistry (IHC) and/or flow cytometry immunophenotypic analysis. MALT lymphoma represents a progression from a persistent chronic inflammatory process, and therefore distinguishing MALT lymphoma from chronic inflammation by histopathology may be challenging in some cases. Despite recent trends to consider <em>IGH</em> rearrangement/clonality as a confirmatory diagnostic test of MALT lymphoma, this method is far from ideal for this purpose since a positive or a negative result does not necessarily confirm or exclude that a process is lymphoma or reactive. This test must be correlated with the morphologic findings. Moreover, MALT lymphoma may arise in association with underlying autoimmune conditions where clonal lymphoid populations are not uncommonly detected. Therefore, we believe that an integrated approach including detailed morphologic review in combination with IHC and/or flow cytometry is best to establish a diagnosis of MALT lymphoma in most cases. We present helpful morphologic tips to avoid potential diagnostic pitfalls at some of the most common extranodal sites, including the stomach, ocular adnexa/conjunctiva, salivary gland, lung, thymus, breast, thyroid, small and large intestine and the dura. The differential diagnosis of MALT lymphoma with IgG4-related disease is also discussed.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105683"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of flow cytometry immunophenotypic analysis for the diagnosis of mature B-cell lymphomas/leukemias","authors":"Hong Fang,&nbsp;Sa A. Wang,&nbsp;L. Jeffrey Medeiros,&nbsp;Wei Wang","doi":"10.1016/j.humpath.2024.105711","DOIUrl":"10.1016/j.humpath.2024.105711","url":null,"abstract":"<div><div>Flow cytometry immunophenotyping (FCI) is an important and indispensable tool in the diagnosis of mature B-cell lymphomas/leukemias, particularly for small fine needle aspiration and needle core biopsy specimens which are becoming increasingly popular for diagnostic purposes. FCI has several advantages. Given its multiparametric nature, FCI can analyze the expression of multiple antigens simultaneously on the same cell of interest, qualitatively and quantitively. During the diagnostic process, FCI can provide time sensitive and valuable information for triage of other ancillary studies such as immunohistochemical and molecular studies. In this review, we aim to provide common and practical approaches for using FCI in the diagnostic workup of mature B-cell neoplasms. The immunophenotypic features of common mature B-cell neoplasms as well as diagnostic challenges and pitfalls associated with FCI are also discussed.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105711"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contemporary approach to the diagnosis and classification of intestinal T-cell lymphomas","authors":"Sanam Loghavi,&nbsp;L. Jeffrey Medeiros","doi":"10.1016/j.humpath.2025.105720","DOIUrl":"10.1016/j.humpath.2025.105720","url":null,"abstract":"<div><div>We provide an overview of recent advances in the diagnosis and classification of intestinal T- and NK-cell lymphomas and lymphoproliferative disorders that primarily involve the gastrointestinal (GI) tract. It should be mentioned that systemic T- and NK-cell lymphomas can present initially in the GI tract but are not the focus of this review. Here, we focus on the clinical and pathologic findings of enteropathy-associated T-cell lymphoma, monomorphic epitheliotropic intestinal T-cell lymphoma, intestinal T-cell lymphoma, not otherwise specified, indolent T-cell lymphoma of the GI tract and indolent NK-cell lymphoproliferative disorder of the GI tract (previously known as NK-cell enteropathy). These diseases are uncommon, and their clinical manifestations and pathologic features can show overlap, but are associated with different outcomes making accurate diagnosis essential. In most cases, the diagnosis of intestinal T- and NK-cell lymphomas and lymphoproliferative disorders requires integrating the clinical context with the morphologic, immunophenotypic, and molecular alterations. In this review, we also emphasize the current understanding of the genetic drivers of these diseases.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105720"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Classic Hodgkin lymphoma: An illustrative review of select diagnostic limitations and immunomorphological challenges","authors":"Siba El Hussein ,&nbsp;Dennis P. O'Malley","doi":"10.1016/j.humpath.2024.105678","DOIUrl":"10.1016/j.humpath.2024.105678","url":null,"abstract":"<div><div>The diagnosis of classic Hodgkin lymphoma (CHL) in clinical practice remains reliant on tissue morphological and immunohistochemical evaluation. In this article, we illustrate specific scenarios that we have encountered in our clinical practice pertaining to diagnostic challenges in CHL. We begin with select presentations of morphologic variants of CHL and then discuss certain immunophenotypic deviations from what is deemed “normal patterns” of antigen expression by HRS cells. Lastly, we discuss mimickers of HRS cells, in lymphomatous and non-lymphomatous conditions.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105678"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary mediastinal large B-cell lymphoma from the clinic to genomics: Insights for pathologists","authors":"Najla Fakhruddin ,&nbsp;Iman Abou Dalle ,&nbsp;Zaher Chakhachiro","doi":"10.1016/j.humpath.2024.105705","DOIUrl":"10.1016/j.humpath.2024.105705","url":null,"abstract":"<div><div>Primary mediastinal large B-cell lymphoma (PMBL) is a mature aggressive B-cell lymphoma that arises in the anterior mediastinum, likely originating from thymic B cells. Initially considered a subtype of diffuse large B-cell lymphoma, PMBL has since been established as a distinct clinicopathologic entity due to its unique clinical, morphologic, immunophenotypic and genetic characteristics. PMBL primarily affects young adults, especially women, and manifests as a bulky mediastinal mass that can invade adjacent structures, often causing respiratory symptoms. The genomic landscape of PMBL includes alterations in the JAK-STAT, NF-κB signaling pathways, and immune evasion mechanisms. This review explores the clinical presentation, pathogenesis and genetic landscape of PMBL, highlighting its morphologic and immunophenotypic characteristics and differences from related mediastinal lymphomas such as classic Hodgkin lymphoma and mediastinal grey zone lymphoma. We also discuss the implications of these findings on diagnosis, management and personalized treatment approaches.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105705"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inside front cover - Masthead","authors":"","doi":"10.1016/S0046-8177(25)00034-6","DOIUrl":"10.1016/S0046-8177(25)00034-6","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105747"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143570506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction to special issue on lymphoma","authors":"L. Jeffrey Medeiros","doi":"10.1016/j.humpath.2025.105721","DOIUrl":"10.1016/j.humpath.2025.105721","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"156 ","pages":"Article 105721"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inside front cover - Masthead","authors":"","doi":"10.1016/S0046-8177(25)00027-9","DOIUrl":"10.1016/S0046-8177(25)00027-9","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"155 ","pages":"Article 105740"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143535186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-myxoid solid variant of extraskeletal myxoid chondrosarcoma: An underrecognized subtype","authors":"Sandra Gjorgova Gjeorgjievski,&nbsp;Jatin S. Gandhi,&nbsp;Armita Bahrami","doi":"10.1016/j.humpath.2025.105719","DOIUrl":"10.1016/j.humpath.2025.105719","url":null,"abstract":"<div><h3>Introduction</h3><div>Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma defined by <em>NR4A3</em> gene rearrangements, typically featuring uniform cells with eosinophilic cytoplasm and mild atypia, arranged in cords or clusters within a chondromyxoid stroma. A cellular variant, characterized by increased cellular density and a solid growth pattern, has been recognized.</div></div><div><h3>Methods</h3><div>We encountered three cases of round cell sarcomas, diagnosed as EMC based on <em>NR4A3</em> or <em>NR4A2</em> rearrangements. To identify additional pure solid EMC cases, we performed a retrospective review of our institutional files spanning 22 years, focusing on cases labeled as \"myxoid chondrosarcoma\" with \"cellular\" features. Histologic slides and clinical data were reviewed.</div></div><div><h3>Results</h3><div>In addition to the three study cases, 43 cases of EMC with cellular features were identified, none of which exhibited the exclusive round-to-spindle cell morphology seen in the study cases. The three unique cases involved two females and one male (ages 42–62) with tumors in the proximal extremities and trunk. The tumors (3.5–10 cm) were well-circumscribed and densely cellular. One tumor exhibited a biphasic pattern with distinct round and spindle cell areas, whereas the other two were composed purely of round/epithelioid cells. High-grade nuclear atypia and brisk mitotic activity (9–13 per 10 HPFs) were observed, with necrosis identified in one case. Next-generation sequencing revealed <em>TCF12::NR4A3</em>, <em>EWSR1::NR4A3</em>, and <em>EWSR1::NR4A2</em> fusions. Two patients developed metastases (lymph nodes and lungs), whereas one remained disease-free at last follow-up.</div></div><div><h3>Conclusion</h3><div>We describe a round cell subtype of EMC, distinct from the traditional cellular variant, characterized by a sheet-like proliferation of large, uniform round-to-epithelioid cells and the absence of chondromyxoid stroma. This potentially underrecognized subtype requires molecular testing for accurate diagnosis. Moreover, the presence of <em>NR4A2</em> fusions, although rare, suggests that the absence of <em>NR4A3</em> rearrangements does not entirely exclude EMC.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"155 ","pages":"Article 105719"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}