Journal of Clinical Pathology最新文献

{"title":"Assessment of AI-based computational H&E staining versus chemical H&E staining for primary diagnosis in lymphomas: a brief interim report.","authors":"Rima Koka, Laura M Wake, Nam K Ku, Kathryn Rice, Autumn LaRocque, Elba G Vidal, Serge Alexanian, Raymond Kozikowski, Yair Rivenson, Michael Edward Kallen","doi":"10.1136/jcp-2024-209643","DOIUrl":"10.1136/jcp-2024-209643","url":null,"abstract":"<p><p>Microscopic review of tissue sections is of foundational importance in pathology, yet the traditional chemistry-based histology laboratory methods are labour intensive, tissue destructive, poorly scalable to the evolving needs of precision medicine and cause delays in patient diagnosis and treatment. Recent AI-based techniques offer promise in upending histology workflow; one such method developed by PictorLabs can generate near-instantaneous diagnostic images via a machine learning algorithm. Here, we demonstrate the utility of virtual staining in a blinded, wash-out controlled study of 16 cases of lymph node excisional biopsies, including a spectrum of diagnoses from reactive to lymphoma and compare the diagnostic performance of virtual and chemical H&Es across a range of stain quality, image quality, morphometric assessment and diagnostic interpretation parameters as well as proposed follow-up immunostains. Our results show non-inferior performance of virtual H&E stains across all parameters, including an improved stain quality pass rate (92% vs 79% for virtual vs chemical stains, respectively) and an equivalent rate of binary diagnostic concordance (90% vs 92%). More detailed adjudicated reviews of differential diagnoses and proposed IHC panels showed no major discordances. Virtual H&Es appear fit for purpose and non-inferior to chemical H&Es in diagnostic assessment of clinical lymph node samples, in a limited pilot study.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"208-211"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288255","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":"Ingested foreign bodies mimicking inflammatory bowel disease.","authors":"Chenxu Shi, Shariq Raza, Andrew Tieniber, Pak Chau, Franz Fogt","doi":"10.1136/jcp-2024-209531","DOIUrl":"10.1136/jcp-2024-209531","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"212-214"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261355","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 characterisation of <i>MTAP</i> alterations in gastrointestinal cancers.","authors":"Gianluca Mauri, Giorgio Patelli, Laura Roazzi, Emanuele Valtorta, Alessio Amatu, Giovanna Marrapese, Erica Bonazzina, Federica Tosi, Katia Bencardino, Gabriele Ciarlo, Elisa Mariella, Silvia Marsoni, Alberto Bardelli, Emanuela Bonoldi, Andrea Sartore-Bianchi, Salvatore Siena","doi":"10.1136/jcp-2023-209341","DOIUrl":"10.1136/jcp-2023-209341","url":null,"abstract":"<p><strong>Background: </strong>Methylthioadenosine phosphorylase (MTAP) is an essential metabolic enzyme in the purine and methionine salvage pathway. In cancer, <i>MTAP</i> gene copy number loss (<i>MTAP</i> loss) confers a selective dependency on the related protein arginine methyltransferase 5. The impact of <i>MTAP</i> alterations in gastrointestinal (GI) cancers remains unknown although hypothetically druggable. Here, we aim to investigate the prevalence, clinicopathological features and prognosis of <i>MTAP</i> loss GI cancers.</p><p><strong>Methods: </strong>Cases with <i>MTAP</i> alterations were retrieved from The Cancer Genome Atlas (TCGA) and a real-world cohort of GI cancers profiled by next-generation sequencing. If <i>MTAP</i> alterations other than loss were found, immunohistochemistry was performed. Finally, we set a case-control study to assess <i>MTAP</i> loss prognostic impact.</p><p><strong>Results: </strong>Findings across the TCGA dataset (N=1363 patients) and our cohort (N=508) were consistent. Gene loss was the most common <i>MTAP</i> alteration (9.4%), mostly co-occurring with <i>CDKN2A/B</i> loss (97.7%). Biliopancreatic and gastro-oesophageal cancers had the highest prevalence of <i>MTAP</i> loss (20.5% and 12.7%, respectively), being mostly microsatellite stable (99.2%). In colorectal cancer, <i>MTAP</i> loss was rare (1.1%), while most <i>MTAP</i> alterations were mutations (5/7, 71.4%); among the latter, only <i>MTAP-CDKN2B</i> truncation led to protein loss, thus potentially actionable. <i>MTAP</i> loss did not confer worse prognosis.</p><p><strong>Conclusions: </strong><i>MTAP</i> alterations are found in 5%-10% of GI cancers, most frequently biliopancreatic and gastro-oesophageal. <i>MTAP</i> loss is the most common alteration, identified almost exclusively in MSS, <i>CDKN2A/B</i> loss, upper-GI cancers. Other <i>MTAP</i> alterations were found in colorectal cancer, but unlikely to cause protein loss and drug susceptibility.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"195-201"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729782","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":"Accuracy of GPT-4 in histopathological image detection and classification of colorectal adenomas.","authors":"Thiyaphat Laohawetwanit, Chutimon Namboonlue, Sompon Apornvirat","doi":"10.1136/jcp-2023-209304","DOIUrl":"10.1136/jcp-2023-209304","url":null,"abstract":"<p><strong>Aims: </strong>To evaluate the accuracy of Chat Generative Pre-trained Transformer (ChatGPT) powered by GPT-4 in histopathological image detection and classification of colorectal adenomas using the diagnostic consensus provided by pathologists as a reference standard.</p><p><strong>Methods: </strong>A study was conducted with 100 colorectal polyp photomicrographs, comprising an equal number of adenomas and non-adenomas, classified by two pathologists. These images were analysed by classic GPT-4 for 1 time in October 2023 and custom GPT-4 for 20 times in December 2023. GPT-4's responses were compared against the reference standard through statistical measures to evaluate its proficiency in histopathological diagnosis, with the pathologists further assessing the model's descriptive accuracy.</p><p><strong>Results: </strong>GPT-4 demonstrated a median sensitivity of 74% and specificity of 36% for adenoma detection. The median accuracy of polyp classification varied, ranging from 16% for non-specific changes to 36% for tubular adenomas. Its diagnostic consistency, indicated by low kappa values ranging from 0.06 to 0.11, suggested only poor to slight agreement. All of the microscopic descriptions corresponded with their diagnoses. GPT-4 also commented about the limitations in its diagnoses (eg, slide diagnosis best done by pathologists, the inadequacy of single-image diagnostic conclusions, the need for clinical data and a higher magnification view).</p><p><strong>Conclusions: </strong>GPT-4 showed high sensitivity but low specificity in detecting adenomas and varied accuracy for polyp classification. However, its diagnostic consistency was low. This artificial intelligence tool acknowledged its diagnostic limitations, emphasising the need for a pathologist's expertise and additional clinical context.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"202-207"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139417225","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":"Diagnostic dilemmas in idiopathic multicentric Castlemans disease idiopathic plasmacytic lymphadenopathy (IPL) type and IgG4-related lymphadenopathy: challenges in recognition and distinction, especially in western pathology.","authors":"Vikram Deshpande, Judith Ferry","doi":"10.1136/jcp-2024-210036","DOIUrl":"https://doi.org/10.1136/jcp-2024-210036","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441077","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: myeloid neoplasms.","authors":"Xueyan Chen, Nikhil Patkar, Prashant Tembhare, Subramanian Papagudi, Cecelia Yeung, Rashmi Kanagal Shamanna, Sumeet Gujral, Brent Wood, Kikkeri N Naresh","doi":"10.1136/jcp-2024-210022","DOIUrl":"https://doi.org/10.1136/jcp-2024-210022","url":null,"abstract":"<p><p>The fifth edition of the WHO classification of haematolymphoid tumours (WHO-HEM5) introduces significant advancements in the understanding and diagnosis of myeloid neoplasms, emphasising molecular and genetic insights. This review highlights key updates from the revised fourth edition (WHO-HEM4R), particularly the integration of genetic criteria for disease classification. Many entities are now defined by specific genetic abnormalities, enhancing diagnostic precision and prognostic assessment. Notably, the elimination of the 20% blast threshold for acute myeloid leukaemia (AML) with specific defining genetic alterations reflects a shift towards genomic-driven diagnostics. Additional updates include the refined subclassification of myelodysplastic neoplasms (MDS) and MDS/myeloproliferative neoplasms, as well as the recognition of novel entities such as clonal haematopoiesis and MDS with biallelic TP53 inactivation, further expanding the spectrum of myeloid neoplasms. WHO-HEM5 illustrates the diagnostic utility of morphology, flow cytometry, immunohistochemistry and next-generation sequencing in resource-rich settings. However, its implementation in low-income and middle-income countries (LMICs) remains challenging due to limited access to advanced diagnostic tools. This review explores strategies to optimise diagnosis in resource-constrained environments, where morphology and immunophenotyping remain fundamental. By integrating molecular diagnostics with traditional methods, WHO-HEM5 aims to refine classification and facilitate risk stratification in the era of personalised medicine, providing haematopathologists and clinicians with an essential framework to navigate the complexities of myeloid neoplasms. The emphasis on advancing haematopathology practices worldwide, including in LMICs, demonstrates the ongoing commitment to improving global outcomes in haematological malignancies.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414269","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":"New evidence for fibrocartilaginous dysplasia representing a variant of fibrous dysplasia.","authors":"Carlos E De Andrea, Alvaro Lopez-Janeiro, Pancras C W Hogendoorn","doi":"10.1136/jcp-2024-210007","DOIUrl":"https://doi.org/10.1136/jcp-2024-210007","url":null,"abstract":"<p><p>Several types of tumours and tumour-like lesions are recognised. Their classification is based mainly on the cell or tissue differentiation pathway found within the lesion. Not all tumour cells in a bone tumour differentiate towards a single cell type. For instance, cartilage-producing cells and cartilaginous matrix are often found within osteosarcoma, and on rare occasions, cartilage can be found in fibrous dysplasia. Here, we discuss the presence of cartilaginous differentiation with fibrous dysplasia, its differential diagnosis and the use of molecular techniques to show that cartilaginous differentiation is an integral part of the lesion in that case, also known as fibrocartilaginous variant of fibrous dysplasia.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364935","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":"Mutational profile dynamics in follicular lymphoma and large cell transformation.","authors":"Eva A M Hesius, Wendy B C Stevens, James P Stewart, Leonie I Kroeze, Ellen van der Spek, Djamila Issa, Peet Nooijen, Jeroen Luijks, David Gonzalez, Patricia J T A Groenen, Nicole M A Blijlevens, Annemiek B van Spriel, Michiel van den Brand","doi":"10.1136/jcp-2024-209880","DOIUrl":"https://doi.org/10.1136/jcp-2024-209880","url":null,"abstract":"<p><strong>Aims: </strong>Follicular lymphoma (FL) is characterised by significant heterogeneity in both the clinical trajectories and the molecular profiles. This study aimed to investigate clonal dynamics in FL by analysing mutation profiles at various time points during the disease course including at histological transformation (HT), to gain insight into the mutational changes over time.</p><p><strong>Methods: </strong>We retrospectively analysed 76 biopsies from 25 patients, including 13 cases with three or more FL biopsies and 12 cases with subsequent HT. Hybrid capture-based Next-Generation Sequencing (NGS) with the EuroClonality-NGS DNA capture (EuroClonality-NDC) assay was used to examine clonal rearrangements and mutations.</p><p><strong>Results: </strong>A total of 204 (potentially) pathogenic mutations were identified. Only 40% of mutations remained stably present during a median follow-up period of 139 months (range 9-198). <i>KMT2D</i> and <i>CREBBP</i> were the most frequently mutated genes at diagnosis, exhibiting relative stability in follow-up biopsies. Conversely, <i>EZH2</i> displayed a dynamic pattern of mutations gained and lost during the disease course. At HT, pathogenic mutations affecting <i>B2M</i>, <i>MYC</i> and <i>TP53</i> emerged. Changes in mutational burden were observed in both FL-sequential and diagnosis-transformation cohorts, with more pronounced changes in the latter.</p><p><strong>Conclusions: </strong>This real-world study provides insights into the complex molecular pathogenesis of FL and HT. As targeted therapies emerge as treatment modalities, mutational profiles could influence treatment decisions in the future. Therefore, recognising the significant changes occurring in the mutational landscape of FL throughout the disease course is crucial.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074708","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":"Prevalence and breakdown of <i>KRAS</i> driver mutations in a large UK non-small cell lung cancer cohort.","authors":"Isabella Caroline Chiara Niesner, Kevin Jon Balbi, Benjamin Poskitt, Carolina Gemma, Josep Linares, David Allen, Oliver Shutkever, Colin R Lindsay, Philip Bennett, David Allan Moore","doi":"10.1136/jcp-2024-209972","DOIUrl":"https://doi.org/10.1136/jcp-2024-209972","url":null,"abstract":"<p><p>Kirsten rat sarcoma viral oncogene (<i>KRAS</i>) is a frequently mutated oncogene in lung cancer, now amenable to targeted therapy with allele-specific G12C inhibitors. Non-small cell lung cancer (NSCLC) driver mutations show geographical variability and therefore the <i>KRAS</i> mutation breakdown, co-occurring oncogenic mutation rate and associated PD-L1 expression were studied in a large UK cohort. We interrogated archival clinical next-generation sequencing (NGS) data over 5 years. 3283 NSCLC samples were included, referred from 38 centres over 4 years. Somatic mutation hotspots in cancer-associated genes were analysed using ampliseq/ion-torrent based NGS assays. In a subset of the cohort, PD-L1 scores were also collated. 1118 <i>KRAS</i> variants were detected. Class I mutations occurred most frequently (86.94%), with <i>KRAS</i> G12C, G12V and G12D being most prevalent. Class II (7.96%), III (4.65%) and IV (0.45%) mutations were also detected and mutations in <i>PIK3CA</i> and <i>BRAF</i> were the most frequently observed co-mutations. No significant difference in PD-L1 expression was found between <i>KRAS</i> wild-type and mutant tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074740","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":"The prevalence of PD-L1 expression in patients with advanced oesophageal cancer: the EXCEED observational study.","authors":"Liyan Xue, Jiaqi Wang, Dong Kuang, Jingping Yun, Yuan Li, Lili Jiang, Daoyuan Wu, Pei Duan, Shixun Lu, Yan Jin, Du He, Jing Qian, Wenmin Tang, Yan Wang, Jielin Li, Jianming Ying","doi":"10.1136/jcp-2024-209721","DOIUrl":"https://doi.org/10.1136/jcp-2024-209721","url":null,"abstract":"<p><strong>Aims: </strong>There are limited data on programmed death ligand 1 (PD-L1) expression in oesophageal cancer (OC) from multicentre studies conducted across China. We aimed to determine the prevalence of high PD-L1 expression in patients with advanced OC.</p><p><strong>Methods: </strong>The EXCEED study was a multicentre, retrospective analysis of data from six tertiary hospitals that evaluated PD-L1 expression in adults with advanced OC or advanced head and neck squamous cell carcinoma. PD-L1 expression was evaluated at each site according to a standardised protocol. The primary outcome was the prevalence of high PD-L1 expression (Combined Positive Score (CPS) ≥10) in surgical or tumour biopsy samples. Low PD-L1 expression was defined as CPS <10. Patient demographic and baseline factors associated with high PD-L1 expression were also investigated. This report presents the results for the OC cohort only.</p><p><strong>Results: </strong>Overall, 482 patients were included, the majority were male (87.6%) and the mean age at diagnosis was 63.3 years; 207 had high PD-L1 expression (42.9%; 95% CI 38.5, 47.5) and 275 had low expression (57.1%; 95% CI 52.5, 61.5). There were significant differences in high PD-L1 expression prevalence between subgroups by sex (p=0.044), number of distant metastases (p=0.020), and if chemotherapy (p=0.004) was received prior to the collection of biological samples (ie, biopsy or surgery).</p><p><strong>Conclusions: </strong>These real-world data provide a robust estimate of the prevalence of high PD-L1 expression in patients with advanced OC and identify clinicopathological and treatment features related to PD-L1 expression that can inform treatment selection.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059326","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}