Human pathology最新文献_第3页

Artificial intelligence in breast pathology: Overview and recent updates. 乳腺病理学中的人工智能：综述和最新进展。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-27 DOI: 10.1016/j.humpath.2025.105819

Sneha Datwani, Hikmat Khan, Muhammad Khalid Khan Niazi, Anil V Parwani, Zaibo Li

{"title":"Artificial intelligence in breast pathology: Overview and recent updates.","authors":"Sneha Datwani, Hikmat Khan, Muhammad Khalid Khan Niazi, Anil V Parwani, Zaibo Li","doi":"10.1016/j.humpath.2025.105819","DOIUrl":"10.1016/j.humpath.2025.105819","url":null,"abstract":"<p><p>Breast cancer remains a major global health concern where timely and accurate pathologic diagnosis is critical for effective management. The traditional reliance on expert interpretation of histopathology is increasingly challenged by rising workloads, inter-observer variability, and the complexity of current precision pathology. The advent of digital pathology through whole slide imaging (WSI) has enabled the integration of artificial intelligence (AI) into breast pathology practice, offering promising solutions to these challenges. This review explores the major advancements of AI in breast pathology, including its applications in diagnosis and classification, histological grading, lymph node metastasis detection, and biomarker quantification (ER, PR, HER2, Ki-67, and others). We also discuss AI's emerging roles in prognosis, treatment response, tumor microenvironment analysis, and the discovery of novel biomarkers. Despite the significant progress, barriers such as data quality, generalizability, model interpretability, regulatory challenges, and integration into clinical workflows remain. Future directions emphasize the development of foundation models, multimodal data integration, explainable AI, real-world clinical validation, and decentralized learning approaches. With careful navigation of these challenges and continued interdisciplinary collaboration, AI is poised to transform breast pathology and advance patient care.</p>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"105819"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179958","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}

引用次数: 0

Estrogen receptor-low positive breast cancer: Historical perspective and recent advancements. 雌激素受体低阳性乳腺癌：历史观点和最新进展。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-27 DOI: 10.1016/j.humpath.2025.105820

Huina Zhang, Madhurya Ramineni, Xiaoxian Li

{"title":"Estrogen receptor-low positive breast cancer: Historical perspective and recent advancements.","authors":"Huina Zhang, Madhurya Ramineni, Xiaoxian Li","doi":"10.1016/j.humpath.2025.105820","DOIUrl":"10.1016/j.humpath.2025.105820","url":null,"abstract":"<p><p>The assessment of estrogen receptor (ER) expression in breast cancer, has traditionally been performed using ligand-binding assays, followed by immunohistochemistry, and is widely used to predict tumor response to endocrine therapy. ER-low positive breast cancer, formally defined in the 2020 ASCO/CAP testing guidelines, represents a small subset of invasive breast cancers characterized by 1 %-10 % of ER staining. Emerging evidence suggests that ER-low positive tumors constitute a heterogeneous group in terms of clinicopathologic features, molecular profiles, prognosis, and responsiveness to endocrine therapy. These tumors frequently behave more like ER-negative cancers, often displaying a more aggressive clinical course compared to classic ER-positive tumors. The clinical benefit of endocrine therapy in this subset remains uncertain, posing a significant challenge in determining the optimal treatment strategies. This review offers both a historical perspective and a comprehensive, up-to-date analysis of recent advancements in the understanding of ER-low positive breast cancer, with a focus on tumor biology, pathological evaluation, and clinical implications.</p>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"105820"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182161","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}

引用次数: 0

Updates on utility of immunohistochemistry in diagnosis of metastatic breast cancer. 免疫组织化学在转移性乳腺癌诊断中的应用进展。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-27 DOI: 10.1016/j.humpath.2025.105821

Hongxia Sun, Aysegul A Sahin, Qingqing Ding

引用次数: 0

Best pathology practices for HER2 testing interpretation, including HER2-low and ultralow, in the era of HER2-directed antibody drug conjugates (ADCs), aligned with the 2018 CAP/ASCO HER2 guidelines. HER2定向抗体药物偶联物（adc）时代HER2检测解释的最佳病理实践，包括HER2低和超低，符合2018年CAP/ASCO HER2指南。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-27 DOI: 10.1016/j.humpath.2025.105818

Monalyn Marabi, Gary M Tse

{"title":"Best pathology practices for HER2 testing interpretation, including HER2-low and ultralow, in the era of HER2-directed antibody drug conjugates (ADCs), aligned with the 2018 CAP/ASCO HER2 guidelines.","authors":"Monalyn Marabi, Gary M Tse","doi":"10.1016/j.humpath.2025.105818","DOIUrl":"10.1016/j.humpath.2025.105818","url":null,"abstract":"<p><p>With the emergence of studies showing clinical response to novel human epidermal growth factor receptor 2(HER2)-targeted treatments among HER2-low and HER2-ultralow metastatic breast cancer patients, this gives hope to patients failing to respond to conventional treatment. Hence, the interest in identifying these group of patients is becoming important. Pathologists' interpretation and scoring of HER2 immunohistochemistry (IHC) was challenged from a dichotomous way to a ternary way of reporting. But HER2 IHC testing is affected by a number of pre-analytic, analytic and post-analytic challenges that could affect interpretation at the lower HER2 protein expression range. Interobserver variability among pathologists and inter-assay variabilities likewise posses a challenge since prior guidelines' emphasis were focused on recognizing HER2-overexpressed from HER2-non-overexpressed tumours. In consideration of these clinical trials, the American Society of Clinical Oncologists and College of American Pathologists (ASCO/CAP) updated and reaffirmed the guideline on HER2 testing in 2018 and in 2023, with the criteria for HER2 categories redefined. Here, we reviewed the definition and differences among HER2-low, HER2-ultralow and HER2-null breast cancer cases as well as the different challenges on HER2 IHC testing encountered and reported, including best pathology practice recommendations to avaoid or minimize these challenges.</p>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"105818"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179964","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}

引用次数: 0

Letter to Editor: Lipoblastoma-like tumor is a distinct neoplasm of soft tissues. 致编辑：脂肪母细胞瘤样肿瘤是一种独特的软组织肿瘤。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-21 DOI: 10.1016/j.humpath.2025.105789

Caio Carvalho I de Vasconcellos, Emília Scalco Wächter, Graziele Bovolim, Felipe D'Almeida Costa, Louise De Brot, Antônio Geraldo Nascimento

引用次数: 0

Paneth cell-like differentiation in a neuroendocrine tumor (NET) of the appendix. A unique case report. 阑尾神经内分泌肿瘤（NET）的Paneth细胞样分化。一份独特的病例报告。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-19 DOI: 10.1016/j.humpath.2025.105798

Luca Ventura, Veronica Forte, Emiliana Giancarli, Federico Sista

引用次数: 0

CIC-rearranged sarcoma in the breast: A series of 3 rare cases with literature review. 乳腺cic重排肉瘤：3例罕见病例并文献复习。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-19 DOI: 10.1016/j.humpath.2025.105801

Lan Zheng, Lin Jonathan He, Hui Chen, Qingqing Ding, Justin Bishop, Yan Peng

{"title":"CIC-rearranged sarcoma in the breast: A series of 3 rare cases with literature review.","authors":"Lan Zheng, Lin Jonathan He, Hui Chen, Qingqing Ding, Justin Bishop, Yan Peng","doi":"10.1016/j.humpath.2025.105801","DOIUrl":"10.1016/j.humpath.2025.105801","url":null,"abstract":"<p><p>Capticua transcriptional repressor (CIC)-rearranged sarcoma represents a distinct highly aggressive, undifferentiated round cell sarcomas, which most commonly affects young adults. The tumor typically arises in the deep soft tissues of the limbs and trunk, followed by the head and neck region, and is rarely found in visceral organs. CIC-rearranged sarcoma originating in the breast is extremely rare with only one case having been reported in the literature. We report three cases of CIC-rearranged sarcoma in the breast, all occurring in young females and exhibiting aggressive clinical behavior. Microscopically, all three cases showed diffuse or lobular growth of small round blue tumor cells with vesicular nuclei, prominent nucleoli, and clear cytoplasm. Focal reticular growth pattern and myxoid stroma were also observed. The diagnosis of CIC-rearranged sarcoma was confirmed through either fluorescence in situ hybridization (FISH) or RNA sequencing; two of the three cases were confirmed to harbor CIC::DUX4 fusion. This case series, to the best of our knowledge, represents the largest report of CIC-rearranged sarcoma in the breast. It highlights the importance of recognizing this rare entity in the breast due to its aggressive clinical course, poor response to chemotherapy, and high tendency for metastasis. It also emphasizes the utility of molecular studies in distinguishing CIC-rearranged sarcoma from poorly differentiated carcinoma, as CIC-rearranged sarcoma has significantly worse prognosis than poorly differentiated carcinoma of breast.</p>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"105801"},"PeriodicalIF":2.7,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119416","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}

引用次数: 0

Melanocytic neoplasm with novel EPS15:BRAF fusion and congenital features. 黑色素细胞肿瘤与新型EPS15:BRAF融合和先天性特征。

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-13 DOI: 10.1016/j.humpath.2025.105790

Shruti Agrawal, Ruifeng Guo

引用次数: 0

Primary penile mesenchymal tumors: A clinicopathologic analysis of 48 cases 原发性阴茎间充质瘤48例临床病理分析

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-01 DOI: 10.1016/j.humpath.2025.105814

Ahmed I. Younes , Adeboye O. Osunkoya , Jatin S. Gandhi , Viraj A. Master , Armita Bahrami

{"title":"Primary penile mesenchymal tumors: A clinicopathologic analysis of 48 cases","authors":"Ahmed I. Younes , Adeboye O. Osunkoya , Jatin S. Gandhi , Viraj A. Master , Armita Bahrami","doi":"10.1016/j.humpath.2025.105814","DOIUrl":"10.1016/j.humpath.2025.105814","url":null,"abstract":"<div><h3>Introduction</h3><div>While the vast majority of penile malignancies are of epithelial origin, most commonly squamous cell carcinoma, mesenchymal tumors of the penis, though rare, represent an important and diagnostically diverse group of neoplasms with variable clinical behavior.</div></div><div><h3>Materials and methods</h3><div>We retrieved cases of primary penile mesenchymal tumors diagnosed or treated at our institution over a 24-year period. Histologic diagnoses were confirmed through systematic review of archived hematoxylin and eosin and immunohistochemical slides. Clinical data were extracted from electronic medical records and pathology reports.</div></div><div><h3>Results</h3><div>A total of 48 tumors were identified in 48 individual patients. Of these, 22 (46 %) were benign, 23 (48 %) malignant, and 3 (6 %) were classified as intermediate tumors. Vascular tumors, including epithelioid hemangioma, Kaposi sarcoma, and epithelioid hemangioendothelioma, accounted for 48 % of cases, making them the most common category. Smooth muscle tumors were the next most frequent (17 %), comprising seven cases of leiomyosarcoma, further classified into deep (n = 4) and superficial (n = 3) types. The most common individual diagnoses were epithelioid hemangioma (27 %), Kaposi sarcoma (19 %), and leiomyosarcoma (15 %). One high-grade leiomyosarcoma demonstrated diffuse p16 expression and was positive for high-risk human papillomavirus (HPV) by RNA in situ hybridization.</div></div><div><h3>Conclusions</h3><div>This series provides a contemporary overview of primary penile mesenchymal tumors, with vascular neoplasms emerging as the most common subtype. To our knowledge, we report the first case of HPV-associated leiomyosarcoma in the male genital tract, broadening the anatomic spectrum of HPV-driven smooth muscle tumors beyond previously described cases in the female lower genital tract.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"159 ","pages":"Article 105814"},"PeriodicalIF":2.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144139328","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}

引用次数: 0

Unlocking diagnostic potential: A retrospective analysis of GPNMB immunohistochemistry in nearly 1000 surgical pathology specimens 解锁诊断潜力：近1000例外科病理标本中GPNMB免疫组化的回顾性分析

IF 2.7 2区医学

Human pathology Pub Date : 2025-05-01 DOI: 10.1016/j.humpath.2025.105799

Huili Li , Andres Matoso

{"title":"Unlocking diagnostic potential: A retrospective analysis of GPNMB immunohistochemistry in nearly 1000 surgical pathology specimens","authors":"Huili Li , Andres Matoso","doi":"10.1016/j.humpath.2025.105799","DOIUrl":"10.1016/j.humpath.2025.105799","url":null,"abstract":"<div><div>Glycoprotein non-metastatic melanoma protein B (GPNMB) is a lysosomal transmembrane protein regulated by the TSC/mTOR-TFE pathway and has been proposed as a diagnostic immunohistochemical (IHC) marker for tumors associated with TSC/mTOR-TFE pathway alterations. However, its diagnostic performance in routine surgical pathology has not been systematically evaluated on a large scale. We retrospectively reviewed 934 cases from the Johns Hopkins pathology archives (2021–2025) in which GPNMB IHC was performed. Diagnoses were categorized into TSC/mTOR-TFE-related, non-TSC/mTOR/TFE-related, or undefined molecular groups. Correlation with fluorescence in situ hybridization (FISH) results and histologic features was performed to assess diagnostic utility. GPNMB was diffusely positive in 94.8 % (218/230) of TSC/mTOR-TFE-related neoplasms, including renal cell carcinomas with TFE3/TFEB rearrangements, perivascular epithelioid cell tumors (PECOMA/AML), and other related entities. In contrast, 83.3 % of non-TSC/mTOR-TFE-related tumors were negative for GPNMB. Discordant cases were seen in both groups, likely reflecting molecular heterogeneity, limitations of FISH, or the complex regulation of GPNMB expression. GPNMB outperformed cathepsin K in sensitivity in FISH-confirmed cases with TFE3 or TFEB alterations. Patchy or equivocal staining required careful histologic and ancillary correlation for interpretation. GPNMB IHC is a valuable ancillary tool in diagnosing TSC/mTOR-TFE-related neoplasms, particularly in renal and mesenchymal tumors. While not perfectly specific or sensitive, it offers a rapid and cost-effective alternative to molecular testing and can guide further diagnostic workup. Positive GPNMB staining in tumors without known TSC/mTOR-TFE alterations may suggest secondary pathway involvement, warranting additional molecular studies.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"159 ","pages":"Article 105799"},"PeriodicalIF":2.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144089746","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}

引用次数: 0