Journal of Clinical Pathology最新文献

{"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":"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":"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}

{"title":"Staging of operative link on gastritis assessment and operative link on gastric intestinal metaplasia systems for risk assessment of early gastric cancer: a case-control study.","authors":"Yu Huang, Jinnan Chen, Yixian Guo, Zhaohui Ding, Xiao Liang, Wei Zhang, Hanbing Xue, Yunjia Zhao, Xiaobo Li, Hong Lu","doi":"10.1136/jcp-2023-209209","DOIUrl":"10.1136/jcp-2023-209209","url":null,"abstract":"<p><strong>Aims: </strong>Operative link on gastritis assessment (OLGA) and operative link on gastric intestinal metaplasia assessment (OLGIM) systems are histological staging systems of gastritis for gastric cancer (GC) risk estimation. Intermediate OLGA/OLGIM stages are of concern in a region with high incidence of GC. This study aimed to validate OLGA and OLGIM staging systems for early GC (EGC) in Chinese population.</p><p><strong>Methods: </strong>This single-centre, case-control study included 196 patients with EGC and 196 age-matched and sex-matched health screening control subjects. OLGA and OLGIM systems, and other clinical parameters were evaluated using logistic regression analysis.</p><p><strong>Results: </strong>OLGA and OLGIM stages II/III/IV were more prevalent in patients with EGC than in the control subjects. Multivariable analysis revealed family history of GC, previous <i>Helicobacter pylori</i> (<i>H. pylori</i>) infection, OLGA stages II and III-IV, OLGIM stages II and III-IV as independent risk factors for EGC (ORs, 4.04, 1.87, 2.52, 6.79, 4.11 and 10.78, respectively). Area under the receiver operating characteristic curve on EGC risk estimation was improved for OLGIM compared with OLGA (0.78 vs 0.71, p<0.001). Autoantibody seropositivity of gastric mucosa was not associated with EGC risk stratified by <i>H. pylori</i> status.</p><p><strong>Conclusions: </strong>Surveillance of intermediate-risk patients (OLGA/OLGIM II) should be emphasised in our region. The OLGIM may be preferred over the OLGA for EGC risk estimation.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"117-122"},"PeriodicalIF":2.5,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291095","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":"Postoperative Hirschsprung's associated enterocolitis (HAEC): transition zone as putative histopathological predictive factor.","authors":"Miriam Duci, Luisa Santoro, Angelo Paolo Dei Tos, Greta Loss, Claudia Mescoli, Piergiorgio Gamba, Francesco Fascetti Leon","doi":"10.1136/jcp-2023-209129","DOIUrl":"10.1136/jcp-2023-209129","url":null,"abstract":"<p><strong>Aims: </strong>Hirschsprung's-associated enterocolitis (HAEC) is the most severe complication of Hirschsprung disease (HD), and its pathogenesis is still unknown. Length of transition zone (TZ) interposed between aganglionic and normal bowel has been poorly explored as predictor for postoperative HAEC (post-HAEC). This study aimed to identify potential predictive factors for post-HAEC, with a particular focus on histopathological findings.</p><p><strong>Methods: </strong>Data from Hirschsprung patients treated in a single Italian centre between 2010 and 2022 with a follow-up >6 months were collected. Thorough histopathological examination of the resected bowel was conducted, focusing on length of TZ and aganglionic bowel.The degree of inflammatory changes in ganglionic resected bowel was further obtained. Ultra-long HD, total colonic aganglionosis and ultra-short HD were excluded. Bivariate and multivariate regression analysis were performed.</p><p><strong>Results: </strong>Thirty-one patients were included; 5 experienced preoperative HAEC (pre-HAEC) and later post-HAEC (16.1%), further 10 patients developed post-HAEC (total post-HAEC 48.38%). Pre-HAEC-history and a TZ<2.25 cm correlated with an early development of post-HAEC. Multivariate analysis identified a TZ<2.25 cm as an independent post-HAEC predictive factor (p=0.0096). Inflammation within the ganglionic zone and a TZ<2.25 cm correlated with higher risk of post-HAEC (p=0.0074, 0.001, respectively). Severe post-HAEC more frequently occurred in patients with pre-HAEC (p=0.011), histological inflammation (p=0.0009) and short TZ (p=0.0015).</p><p><strong>Conclusions: </strong>This study suggests that TZ<2.25 cm predicts the risk of post-HAEC. Preoperative clinical and histopathology inflammation may predispose to worst post-HAEC. Readily available histopathological findings might help identifying patients at higher risk for HAEC and implementing prevention strategies.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"111-116"},"PeriodicalIF":2.5,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487648","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":"Incidence and impact of non-canonical JAK2 p.(Val617Phe) mutations in myeloproliferative neoplasm molecular diagnostics.","authors":"Danielle Patchell, Clodagh Keohane, Susan O'Shea, Stephen E Langabeer","doi":"10.1136/jcp-2023-209276","DOIUrl":"10.1136/jcp-2023-209276","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"139-140"},"PeriodicalIF":2.5,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076126","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}