Journal of Clinical Pathology最新文献

{"title":"Re-evaluating the relevance of extensive intraductal component (EIC) in modern breast cancer management.","authors":"Seyed Reza Taha, Fouad Boulos","doi":"10.1136/jcp-2024-209973","DOIUrl":"10.1136/jcp-2024-209973","url":null,"abstract":"<p><p>The concept of extensive intraductal component (EIC), currently defined by the presence of a prominent ductal carcinoma in situ (DCIS) component within an invasive tumor and extending beyond its margins, was introduced in the 1980s as a predictor of local recurrence following breast-conserving therapy for invasive breast carcinoma. At the time, surgical excision to negative margins was not the standard of care, making EIC a valuable tool for identifying patients at risk of recurrence. However, with modern oncologic and surgical advancements, its clinical relevance has diminished. Despite its continued inclusion as a mandatory entry in the CAP synoptic checklist, studies have shown that EIC does not independently predict local recurrence when margins are negative. Instead, objective parameters such as DCIS size and nuclear grade more accurately correlate with margin status and recurrence risk. While EIC may still be useful in preoperative biopsy assessments for evaluating disease extent among other things, its routine reporting in resection specimens appears less informative. Given its vague definition and limited prognostic value, we propose that EIC reporting should be discretionary rather than mandatory, with emphasis placed on more objective and clinically relevant metrics.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"361-363"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retraction: Estimation of associations between 10 common gene polymorphisms and gastric cancer: evidence from a meta-analysis.","authors":"","doi":"10.1136/jclinpath-2019-206189ret","DOIUrl":"10.1136/jclinpath-2019-206189ret","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"432"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD31 expression in human cancers: a pan-cancer immunohistochemical study.","authors":"Ayumi Ito, Yukinobu Ito, Hiroko Ikeda, Masafumi Horie, Yasufumi Omori, Akiteru Goto, Daichi Maeda","doi":"10.1136/jcp-2024-210009","DOIUrl":"https://doi.org/10.1136/jcp-2024-210009","url":null,"abstract":"<p><strong>Aims: </strong>CD31 (platelet endothelial cell adhesion molecule 1) is a transmembrane glycoprotein involved in cell adhesion and signal transduction that is primarily expressed in vascular endothelial cells, platelets, neutrophils, and certain tumour cells. We investigated CD31 expression in cancer cells by conducting a pan-cancer gene expression analysis using data from cancer cell lines as well as an immunohistochemical analysis of surgically resected cancer specimens. The goal was to elucidate the frequency and distribution of CD31 expression across cancer types and its diagnostic significance.</p><p><strong>Methods: </strong>Gene expression data from 1073 cancer cell lines were analysed to determine the frequency of CD31 expression across different cancer types. Immunohistochemical analysis was performed on 358 resected cancer specimens, focusing on adenocarcinomas and squamous cell carcinomas. The analysis compared the frequency of CD31 expression among specific cancer subtypes and between histological types.</p><p><strong>Results: </strong>In gene expression analyses, adenocarcinomas showed a higher frequency of CD31 expression than did squamous cell carcinomas. Immunohistochemically, CD31 expression was observed in breast apocrine carcinomas (40.0%), hepatocellular carcinomas (18.8%), uterine endometrioid adenocarcinomas (31.6%), ovarian high-grade serous carcinomas (20.0%), ovarian clear cell carcinomas (40.0%) and urothelial carcinomas (25.0%). No CD31 expression was detected in oesophageal, renal, prostate or cervical cancers.</p><p><strong>Conclusions: </strong>CD31 expression is more frequent in adenocarcinomas than in squamous cell carcinomas, with variability among cancer subtypes. Recognising CD31-positive cancers is critical to avoid misdiagnosing them as endothelial-derived tumours. The mechanisms underlying CD31 expression in cancer remain unclear and warrant further investigation.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep learning predicts microsatellite instability status in colorectal carcinoma in an ethnically heterogeneous population in South Africa.","authors":"Alessandro Pietro Aldera, Didem Cifci, Gregory Patrick Veldhuizen, Wan-Jung Tsai, Komala Pillay, Adam Boutall, Hermann Brenner, Michael Hoffmeister, Jakob Nikolas Kather, Raj Ramesar","doi":"10.1136/jcp-2025-210053","DOIUrl":"https://doi.org/10.1136/jcp-2025-210053","url":null,"abstract":"<p><strong>Background: </strong>Deep learning (DL) models are effective pre-screening tools for detecting mismatch repair deficiency (dMMR) in colorectal carcinoma (CRC). These models have been trained and validated on large cohorts from the Northern Hemisphere, without representation of African samples. We sought to determine the performance of a DL model in an ethnically heterogeneous cohort of patients from South Africa.</p><p><strong>Methods: </strong>Our cohort comprised 197 CRC resection specimens, with scanned whole slide images tessellated and inputted into a transformer-based DL model trained on large international cohorts. Model performance was evaluated using area under the receiver operating characteristic curve (AUROC), sensitivity and specificity. The maximal Youden's J index was calculated to determine the optimal cut-off threshold for the model prediction score.</p><p><strong>Results: </strong>Our model yielded an AUROC of 0.91 (±0.05). Using a prediction score threshold of 0.620 produced an overall sensitivity of 85.7% (95% CI 73.3% to 92.9%) and a specificity of 82.4% (95% CI 75.5% to 87.7%). The false negative cases were predominantly left-sided (71.4%) and did not show the typical dMMR/microsatellite instability-high histological phenotype. Sensitivity was lower (50%-75%) in cases showing isolated PMS2 or MSH6 loss of staining. Calibrating the classification threshold to 0.470, the sensitivity was optimised to 95.6% (95% CI 86.3% to 98.9%) with a specificity of 69.6% (95% CI 61.8% to 76.4%). This would have resulted in excluding 103 cases (52.3%) from downstream immunohistochemical (IHC) or molecular testing.</p><p><strong>Conclusions: </strong>Following appropriate region-specific calibration, we have shown that this model could be employed to accurately prescreen for dMMR in CRC, thereby reducing the burden of downstream IHC and molecular testing in a resource-limited setting.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare case of CD20-positive primary cutaneous T-cell lymphoma, NOS, with an aggressive clinical course.","authors":"Danielle R Rinck, Michael S Chang, Christopher Iriarte, Robert Willim","doi":"10.1136/jcp-2024-210025","DOIUrl":"https://doi.org/10.1136/jcp-2024-210025","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving transparency in publishing: gaps in standardised reporting across surgical pathology and laboratory medicine journals.","authors":"Griffin Hughes, Cameron O'Brien, Reece Anderson, Matt Vassar","doi":"10.1136/jcp-2024-209858","DOIUrl":"https://doi.org/10.1136/jcp-2024-209858","url":null,"abstract":"<p><strong>Aims: </strong>Research reporting checklists are itemised writing standards to improve transparency and facilitate reproducibility. Previous assessments of their recommendation or requirement have demonstrated improved checklist adherence across medical specialties and study designs. Here, we investigated the endorsement of reporting checklists within pathology, laboratory medicine and forensic science journals.</p><p><strong>Methods: </strong>We queried Google Scholar Metrics and the Scopus CiteScore tool to identify top pathology and forensic medicine journals. Two authors independently assessed for the mention, recommendation or requirement or checklists-derived from the Enhancing the Quality and Transparency Of Health Research (EQUATOR) network-as well as study preregistration within each journal's aims and instructions for authors. Journal editors were contacted by one author every 3 weeks to confirm whether or not certain study designs would be considered for publication.</p><p><strong>Results: </strong>Of the 88 journals evaluated, most did not mention or endorse the EQUATOR Network (73.9%) or International Committee of Medical Journal Editors reporting standards (51.1%). The most commonly reported checklists included Animal Research: Reporting of In Vivo Experiments (38.6%), Consolidated Standards of Reporting Trials (28.4%) and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (25.0%). The CARE reporting checklist for case reports was required most often by five journals (5.7%). The final email response from journal editors and contacts was 9.1%.</p><p><strong>Conclusions: </strong>Reporting checklists were suboptimally mentioned and rarely required. Even with many basic and diagnostic science reporting checklists and initiatives, endorsement remains low. We recommend that authors, reviewers and editors become familiar with relevant reporting checklists for their fields and publishing spaces to improve checklist visibility and adherence for scientific transparency, reproducibility and rigour.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Foundation models in pathology: bridging AI innovation and clinical practice.","authors":"Sean Hacking","doi":"10.1136/jcp-2024-209910","DOIUrl":"https://doi.org/10.1136/jcp-2024-209910","url":null,"abstract":"<p><p>Foundation models are revolutionising pathology by leveraging large-scale, pretrained artificial intelligence (AI) systems to enhance diagnostics, automate workflows and expand applications. These models address computational challenges in gigapixel whole-slide images with architectures like GigaPath, enabling state-of-the-art performance in cancer subtyping and biomarker identification by capturing cellular variations and microenvironmental changes. Visual-language models such as CONCH integrate histopathological images with biomedical text, facilitating text-to-image retrieval and classification with minimal fine-tuning, mirroring how pathologists synthesise multimodal information. Open-source foundation models will drive accessibility and innovation, allowing researchers to refine AI systems collaboratively while reducing dependency on proprietary solutions. Combined with decentralised learning approaches like federated and swarm learning, these models enable secure, large-scale training without centralised data sharing, preserving patient confidentiality while improving generalisability across populations. Despite these advancements, challenges remain in ensuring scalability, mitigating bias and aligning AI insights with clinical decision-making. Explainable AI techniques, such as saliency maps and feature attribution, are critical for fostering trust and interpretability. As multimodal integration-combining pathology, radiology and genomics-advances personalised medicine, foundation models stand as a transformative force in computational pathology, bridging the gap between AI innovation and real-world clinical implementation.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>SOX17</i>: a new therapeutic target for immune evasion of colorectal cancer.","authors":"Avash Das, Omer Yilmaz, Osman Yilmaz, Vikram Deshpande","doi":"10.1136/jcp-2024-209878","DOIUrl":"https://doi.org/10.1136/jcp-2024-209878","url":null,"abstract":"<p><p>Despite advances in cancer immunotherapies across various cancers, survival outcomes in colorectal cancer (CRC) with these agents remain largely unsatisfactory despite the high tumour burden. Colorectal stem cells (CSCs), especially <i>LGR5</i>+ CSCs, are the significant drivers in CRC initiation, progression and resistance to conventional therapies. Although native immune surveillance is sufficient to combat early tumour formation, CRC evades early immune detection with its well-documented adenoma-to-carcinoma sequence. The exact mechanism underlying this phenomenon still needs to be better understood. SRY-related HMG box gene 17 (<i>SOX17</i>), a transcription factor that specifies embryonic gut formation, is increasingly recognised as a significant factor in CRC tumourigenesis. However, its role as a tumour suppressor or oncogene is still debated. Evidence from a recent study highlighted the critical role of <i>SOX17</i> in reshaping the tumour immune ecosystem through the simultaneous inhibition of CD8+ T cells and selective suppression of <i>LGR5</i> expression in CSCs through transcriptional repression, thereby facilitating disease progression. Given its role in immune evasion, <i>SOX17</i> could be a promising marker in personalised therapy. Additionally, <i>SOX17</i> could play a role in the diagnostic arena, potentially identifying dysplasia in the gastrointestinal tract. Future clinical, basic and genetic studies focusing on <i>SOX17</i> are needed to ascertain its mechanistic role in tumour immunomodulation in CRC and diagnosing preneoplastic lesions in the gastrointestinal tract.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fifth edition WHO classification: precursor lymphoid neoplasms, acute leukaemias of mixed or ambiguous lineage, myeloid/lymphoid neoplasms, and histiocytic and dendritic cell neoplasms, including strategies for application <b>in resource-limited settings</b>.","authors":"Prashant Tembhare, Xueyan Chen, John K C Chan, Brent Wood, Kikkeri N Naresh","doi":"10.1136/jcp-2025-210135","DOIUrl":"https://doi.org/10.1136/jcp-2025-210135","url":null,"abstract":"<p><p>The fifth edition of the WHO classification of haematolymphoid tumours (WHO-HEM5) introduces significant updates to the classification of acute lymphoblastic leukaemia, ALAL (including mixed phenotype acute leukaemia (MPAL)), myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), and histiocytic and dendritic cell neoplasms, reflecting the advances in the understanding of the genetic basis of these diseases. This review provides an overview of these changes, highlighting a shift to a more refined molecular-genetic approach. The incorporation of newly recognised genetic subtypes into the classification scheme underscores the evolving landscape of these entities. Challenges in diagnosing ALAL/MPAL and MLN-TK are discussed, along with recent insights into histiocytic and dendritic cell neoplasms, including newly defined entities such as ALK-positive histiocytosis.The review also explores the practical implications of WHO-HEM5, particularly in resource-limited settings, where comprehensive molecular testing may be unavailable. While morphology and immunohistochemistry remain essential diagnostic tools, strategic use of flow cytometry and targeted fluorescence in situ hybridisation can facilitate risk-adapted classification and improve survival in regions with limited resources and therapeutic options. Future large-scale studies are necessary to establish the diagnostic and prognostic value of these newly genetically defined entities for diverse healthcare environments, and to standardise guidelines in refining disease classification and optimising patient outcomes.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143994495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>GLI1</i> amplification and fusion in <i>MDM2</i>-amplified low-grade osteosarcoma.","authors":"Lan Li, Ming Zhang, Xiaoqi Sun, Yuzi Zhang, Yongbin Su, Rongfang Dong, Tingting Zhang, Ziyi Wang, Yi Ding","doi":"10.1136/jcp-2024-209813","DOIUrl":"https://doi.org/10.1136/jcp-2024-209813","url":null,"abstract":"<p><strong>Aims: </strong>Glioma-associated oncogene homologue 1 (<i>GLI1</i>) was recently shown to be coamplified with mouse double minute 2 (<i>MDM2</i>), cyclin-dependent kinase 4 (<i>CDK4</i>) and some other adjacent genes in a significant subset of <i>GLI1</i>-altered mesenchymal tumours and well-differentiated/dedifferentiated liposarcomas, which are characterised by <i>MDM2</i> amplification. Given that <i>MDM2</i> is also amplified in low-grade osteosarcoma (LGOS), we investigated the prevalence of <i>GLI1</i> amplifications/fusions in a series of 15 cases of <i>MDM2</i>-amplified LGOS, an area that has not been previously explored.</p><p><strong>Methods: </strong>This study conducted a retrospective analysis and examined <i>GLI1</i> amplifications/fusions in 15 cases of <i>MDM2</i>-amplified LGOS and 46 cases of other bone tumours and tumour-like lesions using fluorescence in situ hybridisation with a <i>GLI1</i> amplification probe and a <i>GLI1</i> break-apart probe. Six cases of LGOS were also tested by next-generation sequencing.</p><p><strong>Results: </strong>Fluorescence in situ hybridisation analysis revealed that 13 of 15 (87%) LGOS cases exhibited <i>GLI1</i> amplification; no fusion gene was found. Next-generation sequencing revealed that all six tested cases showed <i>GLI1</i> amplification and one case had both <i>GLI1</i> amplification and <i>GLI1</i> gene fusion (<i>PPM1H::GLI1</i>). All 46 cases of other bone tumours and tumour-like lesions were negative for <i>GLI1</i> amplification and <i>GLI1</i> fusion.</p><p><strong>Conclusion: </strong>These results indicate that <i>GLI1</i> amplification is common in LGOS, and <i>GLI1</i> fusion could occur in LGOS.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}