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":2.5,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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":2.5,"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":"https://doi.org/10.1136/jcp-2025-210202","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"REV7 subunit of mutagenic DNA polymerase ζ as a predictive biomarker for the efficacy of immune checkpoint inhibitor therapy in melanoma.","authors":"Akiyoshi Hoshino, Koya Obara, Masaaki Ichinoe, Takuya Kato, Yasutaka Sakurai, Ai Ushiwata, Atsuko Umezawa, Yoshiko Numata, Masatoshi Ichihara, Yasuyuki Amoh, Yoshiki Murakumo","doi":"10.1136/jcp-2025-210213","DOIUrl":"https://doi.org/10.1136/jcp-2025-210213","url":null,"abstract":"<p><p>Immune checkpoint inhibitor (ICI) therapy serves as a standard treatment for advanced or recurrent malignant melanoma. Tumour neoantigenicity is an important factor for the effectiveness of the ICI therapy. However, the absence of reliable biomarkers to predict ICI therapy efficacy remains an unresolved challenge. REV7 is a subunit of mutagenic DNA polymerase ζ and plays a role in generating genetic alterations following DNA damage. In this study, we examined REV7 as a potential predictive biomarker for ICI therapy in melanoma. Using RNA in situ hybridisation, we assessed REV7 expression in melanomas from 42 patients who received ICI therapy. Our analysis revealed that high REV7 expression correlated significantly with improved progression-free survival, durable clinical benefit and favourable clinical outcomes according to response evaluation criteria in solid tumours. These findings suggest that REV7 may be a potential predictive biomarker for ICI therapy response in melanoma.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225604","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":"Clinicopathological features of EBV-positive polymorphic B-cell lymphoproliferative disorders involving central nervous system in people living with HIV.","authors":"Jing Wang, Dong Zeng, Fengxiang Song, Zhenyan Wang, Ming Liang, Yuexiang Yang, Wenjuan Guo, Yuhan Shi, Ao Wang, Duoduo Li, Keyu Liu, Zhidong Hu, Yanling Feng","doi":"10.1136/jcp-2024-209958","DOIUrl":"https://doi.org/10.1136/jcp-2024-209958","url":null,"abstract":"<p><strong>Aim: </strong>To investigate the histomorphological, immunophenotypic and molecular pathological features of Epstein-Barr virus (EBV)-positive polymorphic B-cell lymphoproliferative disorders (LPD) of the central nervous system (CNS) in people living with HIV.</p><p><strong>Methods: </strong>Seven HIV-positive patients with primary CNS lesions were retrospectively analysed. According to the 5th edition of the WHO Classification of Haematolymphoid Tumours and 2022 International Consensus Classification of mature B-cell lymphomas, these patients were pathologically diagnosed based on their H&E staining, immunohistochemistry, immunoglobulin heavy chain (IGH) clonality analysis, EBV-encoded RNA (EBER) fluorescence in situ hybridisation (FISH) and clinical data.</p><p><strong>Results: </strong>MRI revealed lesions in the frontal lobe, cerebellar vermis, occipital lobe, temporal lobe, basal ganglia and thalamus, with four patients exhibiting lesions in multiple locations. Histopathological examination revealed polymorphic lymphocytic infiltrates in brain tissue, including lymphocytes, histiocytes, immunoblasts, plasma cells, atypical large B-cell and Hodgkin-Reed-Sternberg-like cells, with B-cell predominantly. Lymphocytic infiltration was mainly perivascular, with focal coagulative necrosis observed in four cases. Immunohistochemistry identified B-cell (CD20+, CD79a+), large B-cell and immunoblasts (CD30+), T-cell (CD3+), histiocytes (CD68+) and plasma cells (CD138+). All cases were positive for BCL-2 and Ki67 (20%-60%+), with three cases positive for EBNA2. All cases were negative for LMP1, HHV8, Bcl-6 and CD15. EBER in situ hybridisation was positive in all cases, and five cases showed IGH clonal rearrangement. FISH testing for IGH breakage recombination was negative in all seven cases.</p><p><strong>Conclusion: </strong>Accurate diagnosis of EBV-positive polymorphic B-cell LPD in the CNS of HIV patients requires a comprehensive approach including histology, immunophenotyping, molecular testing, and clinical information.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225603","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":"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}