Journal of Clinical Pathology最新文献

{"title":"Breast phyllodes tumour with epithelioid feature predisposes to malignant transformation.","authors":"Mumin Shao, Lu Zhang, Xia Li, Jiaxin Bi, Xu Jiang, Xuewen Yu, Yingying Liang, Hua Xu, Gang Meng, Xiyu Gong","doi":"10.1136/jcp-2024-209489","DOIUrl":"10.1136/jcp-2024-209489","url":null,"abstract":"<p><strong>Aims: </strong>Phyllodes tumours (PTs) are relatively common fibroepithelial tumours comprising epithelial and stromal component. Usually, PTs show a spindle cell morphology with a fibroblast phenotype, while some tumour cells exhibit epithelioid morphological features and sarcomatoid transformation. However, the molecular characteristics of this morphology subset remain unclear. This study aimed to summarise the clinicopathological, morphological and molecular characteristics of seven cases of PT with epithelioid features.</p><p><strong>Methods: </strong>Morphological and clinicopathological characteristics were observed and retrieved. Immunohistochemistry, immunofluorescence and electron microscope were performed on seven cases of epithelioid PT to explore immunophenotypic and ultrastructural characteristics. Transcriptomic and proteomic analyses were conducted to compare differentially expressed genes and proteins between epithelioid PT and classical PT.</p><p><strong>Results: </strong>Patients with epithelioid PT exhibit a high recurrence rate (42.8%). Morphologically, in addition to having epithelioid cytological features, neoplastic stromal cells exhibit moderate to marked atypia and often exhibit sarcomatoid transformation, similar to the characteristics of borderline PT. Transcriptomic and proteomic analyses demonstrated that epithelioid PTs are distinct from classical PTs in gene expression and protein abundance levels. Immunohistochemical analysis showed that among all differentially expressed proteins, epithelioid PT showed abnormal p16/retinoblastoma expression patterns, similar to those of malignant PT.</p><p><strong>Conclusions: </strong>Epithelioid PT has unique morphological characteristics, biological behaviour and protein expression profile, which meets the diagnostic criteria of borderline PT and is prone to sarcomatoid transformation. It may be a special morphological subgroup of borderline PT and has partial characteristics of malignant PT, which should be taken seriously in pathological diagnosis and clinical management.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"390-398"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular profiling of visible polypoid and invisible conventional intestinal-type low-grade dysplasia in patients with idiopathic inflammatory bowel disease.","authors":"Alexander Christakis, Jonathan Nowak, Matthew J Hamilton, John R Goldblum, Paige Parrack, Neal I Lindeman, Robert Odze, Deepa T Patil","doi":"10.1136/jcp-2024-209601","DOIUrl":"10.1136/jcp-2024-209601","url":null,"abstract":"<p><strong>Aims: </strong>Little is known about the molecular features of visible polyps with low-grade intestinal-type dysplasia in patients with inflammatory bowel disease (IBD). To better understand their origins and biological potential, we sought to genomically profile these lesions and compare them with invisible low-grade dysplasia and sporadic adenomas from non-IBD patients.</p><p><strong>Methods: </strong>22 polyps within areas of colitis, 13 polyps outside areas of colitis, 10 foci of invisible dysplasia from patients with IBD and 6 sporadic tubular adenomas from non-IBD patients were analysed using the OncoPanel assay.</p><p><strong>Results: </strong>Polyps arising in areas of colitis showed a greater spectrum of mutations, including <i>APC</i>, <i>KRAS</i>, <i>FBXW7</i>, <i>TP53</i>, <i>ARID1A</i> and <i>TCF7L2</i>. Polyps outside colitis and non-IBD sporadic adenomas showed a limited mutational profile, with <i>APC</i> and <i>CTNNB1</i> mutations. Invisible dysplasia was characterised by <i>TP53</i>, <i>CTNNB1</i> and <i>KRAS</i> alterations. Compared with dysplastic polyps, none of the invisible dysplastic foci showed <i>APC</i> alterations (73%-within colitis; p=0.0001, 92%-outside colitis; p<0.0001, 83%-sporadic adenomas; p=0.001). <i>TP53</i> mutations were significantly higher in invisible dysplasia (50%) compared with polyps within colitis (9%; p=0.02) and outside colitis (8%; p=0.03).</p><p><strong>Conclusions: </strong>Molecular alterations in visible low-grade dysplastic polyps with conventional intestinal-type dysplasia from patients with IBD and sporadic adenomas from non-IBD patients overlap significantly. <i>APC</i> alterations appear to play a major role in the development of visible low-grade dysplastic lesions in patients with IBD, regardless of background colitis. As with IBD-associated colorectal cancers, <i>TP53</i> mutations are an early event in the development of invisible, low-grade conventional intestinal-type dysplasia in patients with IBD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"416-425"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419314","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":"Real-time histological evaluation of gastrointestinal tissue using non-linear microscopy.","authors":"Haihui Liao, Timothy D Weber, Rachel Yixuan Tan, Jeffrey Liu, James G Fujimoto, Seymour Rosen, Yue Sun","doi":"10.1136/jcp-2024-210031","DOIUrl":"10.1136/jcp-2024-210031","url":null,"abstract":"<p><strong>Aim: </strong>Over the past several decades, optical sectioning technologies have emerged as valuable tools for evaluating tissue histology. Unlike conventional tissue sectioning, these technologies allow for real-time intraoperative assessments and more efficient tissue triage. In the era of digital pathology, the demand for high-quality, high-throughput optical sectioning platforms is increasing, as they eliminate the need for traditional slide preparation and scanning, potentially transforming anatomical pathology workflows. While non-linear microscopy (NLM) has demonstrated promise in histological evaluation across various tissue types, its application in gastrointestinal tissue assessment remains unexplored.</p><p><strong>Methods: </strong>This study extends the use of NLM to gastrointestinal histology and develops an image atlas to highlight its potential as an automated digital pathology platform.</p><p><strong>Results: </strong>Our results indicate that NLM generates diagnostic-quality images comparable to traditional H&E slides. Moreover, NLM provides valuable three-dimensional (3D) spatial information, improving clinical evaluations of key histological features such as depth of invasion, lymphovascular and perineural invasion, tumour budding and margin assessment. Time-lapse videos further demonstrate NLM's capability to capture 3D histological structures up to a depth of approximately 100 µm.</p><p><strong>Conclusion: </strong>Our findings demonstrate that NLM can serve as an optical sectioning platform for gastrointestinal histology, providing both diagnostic-quality imaging and advanced 3D visualisation. The introduction of an NLM-based atlas has the potential to redefine anatomical pathology workflows and advance digital pathology image analysis.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"364-369"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700524","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":"Novel and unusual <i>USP6</i> fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease.","authors":"Jan Balko, William Golas, Ludvik Kaspar, Lenka Krskova, Martina Strnadova, Johana Kotis, Josef Zamecnik","doi":"10.1136/jcp-2023-209306","DOIUrl":"10.1136/jcp-2023-209306","url":null,"abstract":"<p><strong>Aims: </strong>The purpose of this study is to report novel and unusual <i>USP6</i> fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology of <i>USP6</i>-related disorders.</p><p><strong>Methods: </strong>A cohort of seven patients diagnosed with ABC examined between 2014 and 2023 at Motol University Hospital in Prague was included into this retrospective non-randomised study. All cases were analysed using histopathological evaluation, immunohistochemistry and Anchored multiplex RNA methods. Demographic characteristics and clinical data were also analysed.</p><p><strong>Results: </strong>We identified two novel (<i>ZFX</i> and <i>IP6K2</i>), three unusual (<i>MEF2A, EIF1</i> and <i>COL1A2</i>) and two common (<i>CDH11</i>) fusion partners with <i>USP6</i> gene among all seven cases of ABC.</p><p><strong>Conclusions: </strong>Cases in our study were diagnosed as ABCs due to characteristic clinical and morphological presentation. However, not all cases are as self-evident, and molecular testing is necessary. The identification of these gene alterations can be useful in distinction between true ABC and ABC-like changes among many benign and malignant bone tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"399-403"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140012680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IASLC grading system predicts distant metastases for resected lung adenocarcinoma.","authors":"Yuezhu Wang, Margaret R Smith, Caroline B Dixon, Ralph D'Agostino, Yin Liu, Jimmy Ruiz, Michael D Chan, Jing Su, Kathryn F Mileham, Thomas Lycan, Mary E Green, Omer A Hassan, Yuming Jiang, M Khalid Khan Niazi, Wencheng Li, Fei Xing","doi":"10.1136/jcp-2024-209649","DOIUrl":"10.1136/jcp-2024-209649","url":null,"abstract":"<p><strong>Aims: </strong>The International Association for the Study of Lung Cancer (IASLC) has proposed a new histological grading system for invasive lung adenocarcinoma (LUAD). However, the efficacy of this grading system in predicting distant metastases in patients with LUAD remains unexplored. This study aims to assess the potential of the IASLC grading system in predicting the occurrence of brain and bone metastases in patients with resectable LUAD, thereby identifying individuals at high risk of post-surgery distant metastasis.</p><p><strong>Methods: </strong>We retrospectively analysed clinical data and pathological reports of 174 patients with early-stage LUAD who underwent surgical resection between 2008 and 2015 at our cancer center. Patients were monitored for 5 years, and their bone and brain metastasis-free survival rates were determined.</p><p><strong>Results: </strong>28 out of 174 patients developed distant metastases in 5 years with a median overall survival of 60 months for metastasis-free patients and 38.3 months for patients with distant metastasis. Tumour grading of all samples was evaluated by both IASLC grading and predominant pattern-based grading systems. Receiver operating characteristic (ROC) curves were used to evaluate the predictive capabilities of the IASLC grading system and tumour stage for distant metastasis. Compared with the predominant pattern-based grading system, the IASLC grading system showed a better correlation with the incidence of distant metastasis and lymphovascular invasion. ROC analyses revealed that the IASLC grading system outperformed tumour stage in predicting distant metastasis.</p><p><strong>Conclusions: </strong>Our study indicates that the IASLC grading system is capable of predicting the incidence of distant metastasis among patients with early-stage invasive LUAD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"409-415"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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":2.0,"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":"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}