Journal of Clinical Pathology最新文献

{"title":"Reappraisal and refined diagnosis of ultrasonography and histological findings for hydatidiform moles: a multicentre retrospective study of 821 patients.","authors":"Yating Zhao, Limeng Cai, Bo Huang, Xiangang Yin, Dan Pan, Jie Dong, Lei Zheng, Hao Chen, Jun Lin, Huafeng Shou, Zhigang Zhao, Lanying Jin, Xiaoxu Zhu, Luya Cai, Xiaofei Zhang, Jianhua Qian","doi":"10.1136/jcp-2024-209638","DOIUrl":"10.1136/jcp-2024-209638","url":null,"abstract":"<p><strong>Aims: </strong>Specific identification of a hydatidiform mole (HM) and subclassification of a complete hydatidiform mole (CHM) or partial hydatidiform mole (PHM) are critical. This study aimed to reappraise the diagnostic performance of ultrasonography and histology with a refined diagnosis.</p><p><strong>Methods: </strong>This was a retrospective, multicentre cohort study of 821 patients with histologically suspected HM specimens. Refined diagnostic algorithms with p57 immunohistochemistry and short tandem repeat (STR) genotyping were performed and used as the true standard for assessing the diagnostic performance of the original ultrasonography and morphology methods. The diagnostic performance was calculated using accuracy, agreement rate, sensitivity and the positive predictive value (PPV) compared with refined diagnostic results.</p><p><strong>Results: </strong>Of the 821 histologically suspected HM cases included, 788 (95.98%) were successfully reclassified into 448 CHMs, 213 PHMs and 127 non-molar (NM) abortuses. Ultrasonography showed an overall accuracy of 44.38%, with a sensitivity of 44.33% for CHM and 37.5% for PHM. The overall classification accuracy of the original morphological diagnosis was 65.97%. After exclusion of the initially untyped HMs, the overall agreement rate was 59.11% (κ=0.364, p<0.0001) between the original and refined diagnoses, with a sensitivity of 40.09% and PPV of 96.05% for diagnosing CHMs and a sensitivity of 84.98% and a PPV of 45.59% for diagnosing PHMs. The interinstitutional variability of morphology in diagnosing HMs was significant among the 15 centres (range, 8.33%-100.00%, p<0.0001).</p><p><strong>Conclusion: </strong>The current diagnosis of HM based solely on ultrasound or morphology remains problematic, and ancillary techniques, particularly p57 immunohistochemistry and DNA genotyping, should be integrated into routine practice as much as possible.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"483-494"},"PeriodicalIF":2.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759001","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":"Foundation models in pathology: bridging AI innovation and clinical practice.","authors":"Sean Hacking","doi":"10.1136/jcp-2024-209910","DOIUrl":"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":"433-435"},"PeriodicalIF":2.0,"publicationDate":"2025-06-19","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":"S100 protein is commonly expressed in neuroendocrine tumours of major and minor ampulla.","authors":"Alessandro Vanoli, Frediano Inzani, Paola Parente, Luca Albarello, Matteo Fassan, Federica Grillo, Alessia Messina, Angela Carlino, Silvia Uccella, Paola Spaggiari, Stefano La Rosa, Guido Rindi","doi":"10.1136/jcp-2024-209658","DOIUrl":"10.1136/jcp-2024-209658","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"503-504"},"PeriodicalIF":2.5,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288173","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":"Use of DNA profiling to resolve HIV status in a person using injectable cabotegravir for HIV pre-exposure prophylaxis.","authors":"Jessica M Fogel, M Ali Salih, Kathy Haddaway, Mark A Marzinke, Christi Marshall, Zhe Wang, Vanessa Cummings, Estelle Piwowar-Manning, James F Rooney, Marybeth McCauley, Beatriz Grinsztejn, Raphael J Landovitz, Susan H Eshleman","doi":"10.1136/jcp-2025-210202","DOIUrl":"10.1136/jcp-2025-210202","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12287941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275004","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":"Prognostic value of immunohistochemical markers of intratumoral hypoxia in pregnancy-associated breast cancer.","authors":"Carsten F J Bakhuis, Paul J van Diest, Britt B M Suelmann, Natalie D Ter Hoeve, Sven van Kempen, Pieter J Westenend, Sabine C Linn, Elsken van der Wall, Carmen van Dooijeweert","doi":"10.1136/jcp-2024-210002","DOIUrl":"https://doi.org/10.1136/jcp-2024-210002","url":null,"abstract":"<p><strong>Aims: </strong>Breast cancer (BC) during pregnancy (PrBC) and the postpartum period (PPBC) often exhibits more aggressive tumour characteristics and is associated with a poorer prognosis compared with age-matched nonpregnant patients with BC. The underlying mechanisms for this increased aggressiveness remain unresolved. Intratumoral hypoxia, a known adverse prognostic marker in nonpregnant BC, has not yet been studied in PrBC/PPBC. This is particularly intriguing due to the potential exposure to angiogenesis-stimulating factors during pregnancy, which may influence tumour behaviour.</p><p><strong>Methods: </strong>Tumour tissues from 148 patients with PrBC and 45 patients with PPBC were used to create a tissue microarray (TMA), and clinical and outcome data were obtained. The TMAs were stained for hypoxia-associated protein markers: glucose transporter-1, carbonic anhydrase IX and hypoxia-inducible factor-1α.</p><p><strong>Results: </strong>Of all 193 tumours, 152 (79%) expressed at least one of these proteins indicative of intratumoral hypoxia. The presence of intratumoral hypoxia was associated with a higher histological grade (83% grade III vs 63%) and frequent hormone receptor negativity (68% vs 39%). In a multivariable analysis, the presence of intratumoral hypoxia indicated a significantly worse prognosis (HR 2.532, 95% CI 1.1 to 5.7) for patients with PrBC and PPBC.</p><p><strong>Conclusion: </strong>This unique study, the first in patients with PrBC and PPBC, showed that, despite their likely exposure to angiogenesis-stimulating factors, intratumoral hypoxia is frequent and affects 79% of patients. Importantly, patients with tumours overexpressing hypoxia markers have significantly worse survival. This suggests that hypoxia may be an important mechanism in carcinogenesis and clinical behaviour of PrBC and PPBC.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199195","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":"Computational pathology identifies a low B-cell content in the tumour microenvironment as a predictor of adverse outcome in patients with classic Hodgkin lymphoma treated with ABVD.","authors":"Antonio Santisteban-Espejo, Cristian Benavides-De la Fuente, Alipio Mangas-Rojas, Pedro Montero-Pavon, Irene Bernal-Florindo, Eduardo Aldaco-Puntas, Isabel Prieto-Conde, Jose Perez-Requena, Lidia Atienza-Cuevas, Maria Del Carmen Fernández-Valle, Sebastian Garzón-López, Marcial Garcia-Rojo","doi":"10.1136/jcp-2024-209848","DOIUrl":"10.1136/jcp-2024-209848","url":null,"abstract":"<p><strong>Aims: </strong>The prognostic impact of B lymphocytes surrounding Hodgkin and Reed Sternberg (HRS) cells in classic Hodgkin lymphoma (cHL) and pathogenic variants in genes associated with apoptosis regulation remains undefined.</p><p><strong>Methods: </strong>We have quantified the proportion of B lymphocytes in tumour microenvironment (TME) in 220 diagnostic slides from 110 cHL patients applying computational pathology (CP) and sequenced cases using a targeted panel including 47 genes recurrently mutated in mature B-cell neoplasms. Kaplan-Meier estimators and multivariate Cox regression on overall survival (OS) and progression-free survival (PFS) were assessed following the Transparent Reporting of a multivariable prediction model for Individual Prognosis Or Diagnosis guidelines.</p><p><strong>Results: </strong>The mean percentage of B lymphocytes was 45.1 (SD: 24.8). Genes recurrently affected by nonsynonymous somatic mutations in 25% or more of patients included EP300, NOTCH and ABL1. A lower number of mutations were discovered in Epstein-Barr virus-positive cHL (21.1% vs 78.8%) reinforcing the notion that viral infection could functionally replace the need for genomic aberrations. Classic Hodgkin lymphoma (cHL) patients that jointly presented a reduction in the number of B lymphocytes in TME (<8%) and the absence of mutations in apoptosis-associated genes (ABL1, BIRC3, CASP8 and FAS) presented a lower OS (mean OS: 31.5 months, 95% CI: 0 to 69.7 months) in comparison with patients without this event (mean OS: 84.7 months, 95% CI: 61.9 to 107.5 months) (p=0.01). This high-risk cHL subgroup also presented a significantly lower PFS (mean PFS: 8.5 months, 95% CI: 7.5 to 9.5 months) in comparison with B-cell-enriched or apoptosis-mutated cHL (mean PFS: 55.2 months; 95% CI: 42.4 to 68 months) (p<0.001).</p><p><strong>Conclusions: </strong>This study expands previous data on the value of CP in cHL, and specifically, the distribution of B cells, identifying patients with an increased risk of treatment failure and progression. Furthermore, immune escape by apoptosis dysregulation during clonal selection occurring in germinal centres constitutes a landmark of cHL. These results could be the basis for further development of targeted therapies directed against apoptosis modulators in cHL.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"381-389"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006209","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":"Partial regression of conventional renal cell carcinoma displays markers of wound repair.","authors":"Lilla Domonkos, Maria Yusenko, Gyula Kovacs, Daniel Banyai","doi":"10.1136/jcp-2024-209459","DOIUrl":"10.1136/jcp-2024-209459","url":null,"abstract":"<p><strong>Aims: </strong>During detailed analysis of H&E-stained histological slides of 710 unbiased conventional renal cell carcinomas (cRCCs), 141 tumours displayed partial regressive changes showing strong similarity to that of wound healing. We aimed to analyse the molecular processes occurring in regressive tumours.</p><p><strong>Methods: </strong>Immunohistochemistry was applied to analyse the signalling molecules in 12 selected tumours, and statistical analysis was used to estimate the correlation between regression and the outcome of the disease.</p><p><strong>Results: </strong>The regressive areas displayed inflammatory granulation tissue expressing transforming growth factor beta-1 (TGFB1), interleukin-1 beta and interleukin-6 (IL1B and IL6), proliferation of alpha smooth muscle actin (αSMA) positive naïve activated fibroblasts and a diffuse fibronectin 1 (FN1) network. In the central areas of regressive tissues, parallel-running myofibroblasts showed FN1, collagen type I alpha 1 (COL1A1) and collagen type III alpha 1 (COL3A1) positive immunoreaction. Partial tumour regression is associated with a better postoperative course of the disease.</p><p><strong>Conclusions: </strong>Partial regression is a frequent event in cRCCs. Recognising complex molecular processes involved in tumour regression might help to find a way towards 'healing' cRCC.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"404-408"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466580","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":"Time trends in Gleason score distribution among Gleason score 8 and 9-10 cancers.","authors":"Lars Egevad, Chiara Micoli, Brett Delahunt, Hemamali Samaratunga, Hans Garmo, Pär Stattin, Martin Eklund","doi":"10.1136/jcp-2025-210062","DOIUrl":"10.1136/jcp-2025-210062","url":null,"abstract":"<p><p>Reporting of prostate cancer grade has drifted to higher reported grades over the past decades. In prostate cancers diagnosed on needle biopsy of 1 72 112 men reported to The National Prostate Cancer Register of Sweden 2000-2020, we also noted a grade shift among high-grade cancers. We applied multinomial logistic regression to assess time trends. Among International Society of Urological Pathology (ISUP) grade 4 cancers, Gleason score 3+5 increased from 8% in 2000 to 22% in 2020, while Gleason score 4+4 decreased from 88% to 77%. Among ISUP grade 5, Gleason score 4+5 and 5+4 cancers increased from 85% to 93%, while Gleason score 5+5 decreased from 15% to 7%. This may be explained by a reluctance to assign Gleason scores composed of a uniform grade following recommendations to include minimal components of higher grade in the scores. These changes are obscured by merging Gleason scores into ISUP grades.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"429-431"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624863","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":"Unravelling switch/sucrose non-fermentable (SWI-SNF) complex-deficient thoracic tumours: a clinicopathological comparative on undifferentiated tumours and non-small cell lung carcinomas with BRG1 and BRM deficiency.","authors":"Ridhi Sood, Arshi Tandon, Warisa Khatoon, Jayashimman Vasanthraman, Aruna Nambirajan, Anant Mohan, Prabhat Singh Malik, Deepali Jain","doi":"10.1136/jcp-2024-209619","DOIUrl":"10.1136/jcp-2024-209619","url":null,"abstract":"<p><strong>Aims: </strong>This study was undertaken to compare and expand the clinicopathological characteristics of SMARCA4-deficient thoracic undifferentiated tumour (SMARCA4-dUT) and switch/sucrose non-fermentable-deficient non-small cell lung carcinomas (SWI/SNF-dNSCLC) and to address cases with intermediate features.</p><p><strong>Methods: </strong>The pathology department archive was searched for all primary mediastinal, pleural and lung-based malignancies that showed aberrant expression of two SWI/SNF proteins the Brahma (BRM) aka <i>SMARCA2</i> and/or (Brahma-related gene 1 (BRG1) aka <i>SMARCA4</i>. Patient demographics, treatment and clinical outcomes were collected from records and telephonic interviews. Differences in histopathological features and immunohistochemical stains were analysed. Cases with characteristics intermediate between both tumour entities were sequenced to advance our understanding of their biology and to assign them a more accurate classification.</p><p><strong>Results: </strong>We identified 50 tumours with SMARCA4 and/or SMARCA2 deficiencies, including 23 (46%) SMARCA4-dUT, 18 (36%) SMARCA4-dNSCLC and 2 (4%) SMARCA2-dNSCLC. Dyscohesive or undifferentiated cellular morphology versus frank gland formation along with keratin, claudin-4 and expression of >1 stem cell marker helped classify the SWI/SNF deficient tumours as SMARCA4-dUT or SWI/SNF-dNSCLC (p<0.05). Seven (14%) cases with BRG1 deficiency displayed 'intermediate' features of both SMARCA4-dNSCLC and SMARCA4-dUT and had the shortest overall survival. The smoking-related gene signature was observed on sequencing in all four cases examined.</p><p><strong>Conclusion: </strong>Tumours with intermediate features between SMARCA4-dUT and SWI/SNF-dNSCLC exist and portend an equally poor prognoses. Immunostains, including keratin, claudin-4, TTF1, HepPar1, stem cell markers, along with BRG1 and BRM testing, are essential adjuncts to morphology, while molecular studies can offer supplementary evidence in challenging cases.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"370-380"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583045","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>9p24/JAK2</i> rearrangements in myeloid neoplasms: from myelodysplastic syndromes to myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.","authors":"Federico Scarmozzino, Marco Pizzi, Ilaria Gianesello, Laura Bonaldi, Annalisa Martines, Nicolò Danesin, Simone Zoletto, Stefano Pravato, Barbara Cassani, Umberto Gianelli, Livio Trentin, Gianni Binotto, Angelo Paolo Dei Tos","doi":"10.1136/jcp-2024-209587","DOIUrl":"10.1136/jcp-2024-209587","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"426-428"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700521","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}