Journal of Clinical Pathology最新文献

筛选
英文 中文
Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis. 钙化软骨间充质瘤:临床病理和分子分析。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2025-01-11 DOI: 10.1136/jcp-2024-209806
Xiaolong Feng, Suxia Wang, Jiacong Wei, Weihua Li, Shun Wang, Peng Guo, Changyuan Guo, Weiwei Hao, Hongtian Dai, Lihua Gong
{"title":"Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis.","authors":"Xiaolong Feng, Suxia Wang, Jiacong Wei, Weihua Li, Shun Wang, Peng Guo, Changyuan Guo, Weiwei Hao, Hongtian Dai, Lihua Gong","doi":"10.1136/jcp-2024-209806","DOIUrl":"https://doi.org/10.1136/jcp-2024-209806","url":null,"abstract":"<p><strong>Aims: </strong>Calcified chondroid mesenchymal neoplasm (CCMN) is a recently identified category of soft tissue neoplasms defined by cartilage or cartilaginous matrix formation and <i>FN1</i> gene fusions. Its rarity and similarities to other soft tissue tumours pose diagnostic challenges. This study aims to deepen understanding of CCMN, highlighting molecular pathology's role in diagnosis to reduce misdiagnosis, overdiagnosis and overtreatment.</p><p><strong>Methods: </strong>We conducted a clinicopathological analysis of five newly identified CCMN cases and reviewed 87 cases documented in PubMed. Next-generation sequencing was used to detect molecular alterations, while clinical, radiological and histopathological features were extensively reviewed.</p><p><strong>Results: </strong>CCMN typically affects adults, presenting as a slow-growing, painless mass in soft tissue. Histologically, CCMN exhibits a chondroid matrix with variable calcification. Molecular analyses in our cases identified <i>FN1::FGFR1</i>, <i>FN1::FGFR2</i> and <i>FN1::TEK</i> fusions. Review of the 87 cases revealed consistent clinical, imaging and molecular profiles, underscoring CCMN's distinct characteristics.</p><p><strong>Conclusions: </strong>CCMN should be considered in the differential diagnosis of soft tissue tumours with chondroid and calcified components. Detecting <i>FN1</i> gene fusions aids in distinguishing CCMN from morphologically similar tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970918","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}
引用次数: 0
LGR5 as a diagnostic marker for dysplasia in serrated polyps. LGR5作为锯齿状息肉发育不良的诊断标志物。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2025-01-09 DOI: 10.1136/jcp-2024-209856
Osman Yilmaz, Kshtij Arora, Soo Hyun Lee, Sahar Hosseini, Feidi Chen, Nandan Padmanabha, George Eng, Kanchan Kantekure, Omer Yilmaz, Vikram Deshpande
{"title":"LGR5 as a diagnostic marker for dysplasia in serrated polyps.","authors":"Osman Yilmaz, Kshtij Arora, Soo Hyun Lee, Sahar Hosseini, Feidi Chen, Nandan Padmanabha, George Eng, Kanchan Kantekure, Omer Yilmaz, Vikram Deshpande","doi":"10.1136/jcp-2024-209856","DOIUrl":"https://doi.org/10.1136/jcp-2024-209856","url":null,"abstract":"<p><strong>Aims: </strong>WNT signalling pathway dysregulation is often a critical early component in colorectal neoplasia, particularly the chromosomal instability pathway. Using two WNT reporters, <i>LGR5</i> and <i>AXIN2</i>, we sought to assess whether these polyps demonstrate predictable expression patterns and if these patterns show diagnostic value.</p><p><strong>Methods: </strong>We evaluated 23 adenomas (TA), 23 sessile serrated lesions (SSLs), 14 SSL with dysplasia and 38 traditional serrated adenomas (TSA). Chromogenic in situ hybridisation stains (ISH) for <i>LGR5</i> and <i>AXIN2</i> were performed. Reactivity was defined as strong, intermediate or weak. Upper third crypt reactivity was defined as full-thickness staining. Accentuation within ectopic crypts (ECF) was recorded.</p><p><strong>Results: </strong>TAs (91%) showed strong reactivity and full-thickness staining with <i>LGR5</i>. TSAs showed full-thickness and weak to intermediate <i>LGR5</i> reactivity (79%) and ECF with <i>LGR5</i> accentuation was exclusively seen in TSA. SSL showed weak <i>LGR5</i> reactivity confined to the basal crypt region (100%). SSL with dysplasia also showed weak or intermediate (100%) <i>LGR5</i> reactivity, but the reactivity pattern was full thickness (88%). <i>AXIN2</i> expression parallels <i>LGR5</i> expression (Pearson coefficient=0.63) regarding signal intensity for the examined polyp groups.</p><p><strong>Conclusions: </strong>Qualitative and quantitative differences in <i>AXIN2</i> and <i>LGR5</i> expression assist in the diagnosis of SSL with dysplasia.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949551","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}
引用次数: 0
c-Met immunohistochemistry as reflex test at diagnosis for non-small cell lung cancer: a real-world experience from a monocentric case series. c-Met免疫组织化学作为诊断癌症非小细胞肺癌的反射测试:来自单中心病例系列的真实经验。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-209202
Christophe Bontoux, Veronique Hofman, Milissa Abboute, Virginie Lespinet-Fabre, Salomé Lalvée, Samantha Goffinet, Olivier Bordone, Elodie Long-Mira, Sandra Lassalle, Florent Murcy, Guylène Rignol, Simon Heeke, Marius Ilie, Paul Hofman
{"title":"c-Met immunohistochemistry as reflex test at diagnosis for non-small cell lung cancer: a real-world experience from a monocentric case series.","authors":"Christophe Bontoux, Veronique Hofman, Milissa Abboute, Virginie Lespinet-Fabre, Salomé Lalvée, Samantha Goffinet, Olivier Bordone, Elodie Long-Mira, Sandra Lassalle, Florent Murcy, Guylène Rignol, Simon Heeke, Marius Ilie, Paul Hofman","doi":"10.1136/jcp-2023-209202","DOIUrl":"10.1136/jcp-2023-209202","url":null,"abstract":"<p><strong>Aims: </strong>Recent clinical trials have shown promising results with drugs targeting the hepatocyte growth factor receptor (c-Met) for advanced non-small cell lung cancers overexpressing c-Met. We assessed reflex testing of c-Met immunohistochemistry (IHC) at diagnosis for NSCLC in the real-world.</p><p><strong>Methods: </strong>We retrospectively collected clinical, pathological and molecular data of cases diagnosed with NSCLC in our institution from January 2021 to June 2023. We performed c-Met IHC (SP44 clone) and scored the expression using a H-score and a three-tier classification.</p><p><strong>Results: </strong>391 cases with interpretable c-Met IHC staining were included. The median age at diagnosis was 70 years (range 25-89 years) including 234 males (male/female ratio 1:5). 58% of the samples came from surgical resections, 35% from biopsies and 8% from cytological procedures. 52% of cases were classified as c-Met-positive (H-score≥150) and 19% were classified as c-Met<sup>high</sup> (≥50%, 3+). 43% of the c-Met<sup>neg</sup> presented with lymph node and/or visceral metastases at diagnosis vs 55% for c-Met<sup>high</sup> (p=0.042). 23% of the adenocarcinomas showed c-Met<sup>high</sup> expression vs 3% for squamous cell carcinomas (p=0.004). 27% of the c-Met<sup>neg</sup> cases had a high PD-L1 expression vs 58% of c-Met<sup>high</sup> cases (p<0.001). <i>MET</i> ex14 skipping was present in 8% of the c-Met<sup>high</sup> cases.</p><p><strong>Conclusions: </strong>Systematic c-Met testing in daily routine for NSCLC patients is feasible, highlighting a potential correlation with clinicopathological and molecular features.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"35-41"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521612","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}
引用次数: 0
Histological features of liver disease development in the Atp7b-/- mouse: a model of Wilson's disease. Atp7b-/-小鼠肝脏疾病发展的组织学特征:威尔逊病模型
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-209190
Pierre-Marie Lavrut, Olivier Guillaud, Jérôme Dumortier, Elisabeth Mintz, Virginie Brun, Sophie Heissat, Eduardo Couchonnal Bedoya, Alain Lachaux, Muriel Bost, Valerie Hervieu
{"title":"Histological features of liver disease development in the Atp7b<sup>-/-</sup> mouse: a model of Wilson's disease.","authors":"Pierre-Marie Lavrut, Olivier Guillaud, Jérôme Dumortier, Elisabeth Mintz, Virginie Brun, Sophie Heissat, Eduardo Couchonnal Bedoya, Alain Lachaux, Muriel Bost, Valerie Hervieu","doi":"10.1136/jcp-2023-209190","DOIUrl":"10.1136/jcp-2023-209190","url":null,"abstract":"<p><strong>Aims: </strong>Wilson's disease (WD) is caused by mutations in the ATP7B gene, resulting in copper accumulation and toxicity in liver and brain tissues. Due to the initial asymptomatic liver involvement, the progression of liver injuries in WD stays primarily unknown. Atp7b-/- knockout mice have been shown to be an appropriate model of WD for liver involvement.</p><p><strong>Methods: </strong>A total of 138 Atp7b-/- mice were included and separated into five groups according to age as follows: 6, 20, 39 and 50 weeks without treatment, and 50 weeks with copper chelator treatment from 39 to 50 weeks of age and compared with 101 wild-type (WT) mice at the same stages. The evolution of histological liver lesions was analysed and compared between groups.</p><p><strong>Results: </strong>Significant changes were observed in Atp7b-/- mice compared with WT. Copper deposits in hepatocytes appeared as early as 6 weeks but no significant increase over time was observed. Inflammation appeared as early as 6 weeks and progressed henceforth. Lobular and periportal acidophilic bodies appeared after 20 weeks. Significant atypia was also observed at 20 weeks and increased over time to reach a severe stage at 39 weeks. Fibrosis also became apparent at 20 weeks, progressing subsequently to precirrhotic stages at 50 weeks. Copper content, inflammation and fibrosis scores were significantly reduced in the treated group. No bile duct lesions or dysplastic changes were noted.</p><p><strong>Conclusions: </strong>Copper accumulation leads to progressive changes in Atp7b-/- mice regarding inflammation, fibrosis and atypia. The severity of liver damage is lessened by chelation therapy.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"51-56"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11672018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649000","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}
引用次数: 0
Primary desmoplastic small round cell tumour of the prostate. 前列腺原发性去鳞屑小圆形细胞瘤。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2024-209660
Jingyu Qian, Yanjin Yang, Xin Xie, Yifan Kang, Jinjing Zhong, Xueqin Chen, Ni Chen, Qiao Zhou, Ling Nie
{"title":"Primary desmoplastic small round cell tumour of the prostate.","authors":"Jingyu Qian, Yanjin Yang, Xin Xie, Yifan Kang, Jinjing Zhong, Xueqin Chen, Ni Chen, Qiao Zhou, Ling Nie","doi":"10.1136/jcp-2024-209660","DOIUrl":"10.1136/jcp-2024-209660","url":null,"abstract":"<p><p>Desmoplastic small round cell tumour (DSRCT) is a highly aggressive soft-tissue sarcoma with distinctive morphological features and characteristic <i>EWSR1::WT1</i> gene fusion. DSRCT occurs in a variety of anatomic sites, with abdominal cavity being the most common location. Primary DSRCTs arising in the male genital system are exceedingly rare, with no documented definitive cases of primary DSRCT of the prostate to date, although 28 cases of DSRCT in the testicular or paratesticular regions have been reported. We here present two cases of primary DSRCT of the prostate. Both cases demonstrated the distinct morphology and the typical multiphenotypic immunohistochemical profile, and the characteristic <i>EWSR1::WT1</i> fusion verified by fluorescent in situ hybridisation. Our cases expand the anatomic distribution of primary DSRCT and highlight the importance of considering this rare tumour in the differential diagnoses of small cell malignancies of the prostate.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"64-69"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792544","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}
引用次数: 0
Severe antigen excess confounding the detection of Plasmodium falciparum via rapid antigen assay. 通过快速抗原检测法检测恶性疟原虫时出现的严重抗原过量问题。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2024-209438
Eric P Grewal, Anthony R Russo, Maxwell T Roth, Eunice L Rogaishio, Sarah E Turbett, Eric S Rosenberg, John A Branda, Eliezer Zachary Nussbaum
{"title":"Severe antigen excess confounding the detection of <i>Plasmodium falciparum</i> via rapid antigen assay.","authors":"Eric P Grewal, Anthony R Russo, Maxwell T Roth, Eunice L Rogaishio, Sarah E Turbett, Eric S Rosenberg, John A Branda, Eliezer Zachary Nussbaum","doi":"10.1136/jcp-2024-209438","DOIUrl":"10.1136/jcp-2024-209438","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"71-72"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305768","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}
引用次数: 0
Whole slide imaging of tumour microenvironment in classical Hodgkin's lymphoma: development of a clinical prediction model based on programmed death-ligand 1 and tumorous Reed-Sternberg cells. 经典霍奇金淋巴瘤肿瘤微环境的全切片成像:基于程序性死亡配体1和肿瘤Reed-Sternberg细胞的临床预测模型的建立
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-209097
Antonio Santisteban Espejo, Irene Bernal-Florindo, Pedro Montero-Pavon, Jose Perez-Requena, Lidia Atienza-Cuevas, Ana Villalba-Fernandez, Marcial Garcia-Rojo
{"title":"Whole slide imaging of tumour microenvironment in classical Hodgkin's lymphoma: development of a clinical prediction model based on programmed death-ligand 1 and tumorous Reed-Sternberg cells.","authors":"Antonio Santisteban Espejo, Irene Bernal-Florindo, Pedro Montero-Pavon, Jose Perez-Requena, Lidia Atienza-Cuevas, Ana Villalba-Fernandez, Marcial Garcia-Rojo","doi":"10.1136/jcp-2023-209097","DOIUrl":"10.1136/jcp-2023-209097","url":null,"abstract":"<p><strong>Aims: </strong>The prognostic impact of programmed death-ligand 1 (PD-L1) cells in classic Hodgkin lymphoma (cHL) tumour microenvironment remains undefined.</p><p><strong>Methods: </strong>Model development via Transparent Reporting of a multivariable prediction model for Individual Prognosis Or Diagnosis guidelines were followed. PD-L1+ and CD30+ tumoral Reed-Sternberg cells were quantified through whole slide imaging and digital image analysis in 155 digital histopathological slides of cHL. Univariate and multivariate survival analyses were performed. The analyses were reproduced for patients with advanced stages (IIB, III and IV) using the Advanced-stage cHL International Prognostic Index.</p><p><strong>Results: </strong>The PD-L1/CD30 ratio was statistically significantly associated with survival outcomes. Patients with a PD-L1/CD30 ratio above 47.1 presented a shorter overall survival (mean OS: 53.7 months; 95% CI: 28.7 to 78.7) in comparison with patients below this threshold (mean OS: 105.4 months; 95% CI: 89.6 to 121.3) (p=0.04). When adjusted for covariates, the PD-L1/CD30 ratio retained prognostic impact, both for the OS (HR: 1.005; 95% CI: 1.002 to 1.008; p=0.000) and the progression-free survival (HR: 3.442; 95% CI: 1.045 to 11.340; p=0.04) in a clinical and histopathological multivariate model including the male sex (HR: 3.551; 95% CI: 0.986 to 12.786; p=0.05), a percentage of tumoral cells ≥10.1% (HR: 1.044; 95% CI: 1.003 to 1.087; p=0.03) and high risk International Prognostic Score (≥3 points) (HR: 6.453; 95% CI: 1.970 to 21.134; p=0.002).</p><p><strong>Conclusions: </strong>The PD-L1/CD30 ratio identifies a group of cHL patients with an increased risk of treatment failure. Its clinical application can be performed as it constitutes an easy to implement pathological information in the diagnostic work-up of patients with cHL.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"11-18"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136397608","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}
引用次数: 0
Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand. 泰国 2 型和 3 型 von Willebrand 疾病的基因变异。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-209123
Supanun Lauhasurayotin, Chatphatai Moonla, Rungnapa Ittiwut, Chupong Ittiwut, Natsaruth Songthawee, Patcharee Komvilaisak, Rungrote Natesirinilkul, Nongnuch Sirachainan, Ponlapat Rojnuckarin, Darintr Sosothikul, Kanya Suphapeetiporn
{"title":"Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.","authors":"Supanun Lauhasurayotin, Chatphatai Moonla, Rungnapa Ittiwut, Chupong Ittiwut, Natsaruth Songthawee, Patcharee Komvilaisak, Rungrote Natesirinilkul, Nongnuch Sirachainan, Ponlapat Rojnuckarin, Darintr Sosothikul, Kanya Suphapeetiporn","doi":"10.1136/jcp-2023-209123","DOIUrl":"10.1136/jcp-2023-209123","url":null,"abstract":"<p><strong>Aims: </strong>Von Willebrand disease (VWD) is an inherited haemostatic disorder with a wide range of bleeding phenotypes based on von Willebrand factor (VWF) levels. Multiple assays including <i>VWF</i> gene analysis are employed to correctly diagnose VWD and its subtypes. However, data on <i>VWF</i> mutations among Southeast Asian populations are lacking. We, therefore, aimed to explore genetic variations in Thai patients with type 2 and type 3 VWD by whole exome sequencing (WES).</p><p><strong>Methods: </strong>In this multicentre study, Thai patients with type 2 and type 3 VWD, according to the definitions and VWF levels recommended by the international guidelines, were recruited. WES was performed using DNA extracted from peripheral blood in all cases. The novel variants were verified by Sanger sequencing.</p><p><strong>Results: </strong>Fifteen patients (73% females; median age at diagnosis 3.0 years) with type 2 (n=12) and type 3 VWD (n=3) from 14 families were enrolled. All patients harboured at least one <i>VWF</i> variant. Six missense (p.Arg1374Cys, p.Arg1374His, p.Arg1399Cys, p.Arg1597Trp, p.Ser1613Pro, p.Pro1648Arg) and one splice-site (c.3379+1G>A) variants in the <i>VWF</i> gene were formerly described. Notably, six <i>VWF</i> variants, including three missense (p.Met814Ile, p.Trp856Cys, p.Pro2032Leu), one deletion (c.2251delG) and two splice-site (c.7729+4A>C, c.8115+2delT) mutations were novelly identified. Compound heterozygosity contributed to type 2 and type 3 VWD phenotypes in two and one patients, respectively.</p><p><strong>Conclusions: </strong>Type 2 and type 3 VWD in Thailand demonstrate the mutational variations among <i>VWF</i> exons/introns with several unique variants. The WES-based approach potentially provides helpful information to verify VWD diagnosis and facilitate genetic counselling in clinical practice.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"57-63"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487643","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}
引用次数: 0
Lymphoma triage from H&E using AI for improved clinical management. 使用AI改善临床管理的H&E淋巴瘤分型。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-209186
Anna Maria Tsakiroglou, Chris M Bacon, Daniel Shingleton, Gabrielle Slavin, Prokopios Vogiatzis, Richard Byers, Christopher Carey, Martin Fergie
{"title":"Lymphoma triage from H&E using AI for improved clinical management.","authors":"Anna Maria Tsakiroglou, Chris M Bacon, Daniel Shingleton, Gabrielle Slavin, Prokopios Vogiatzis, Richard Byers, Christopher Carey, Martin Fergie","doi":"10.1136/jcp-2023-209186","DOIUrl":"10.1136/jcp-2023-209186","url":null,"abstract":"<p><strong>Aims: </strong>In routine diagnosis of lymphoma, initial non-specialist triage is carried out when the sample is biopsied to determine if referral to specialised haematopathology services is needed. This places a heavy burden on pathology services, causes delays and often results in over-referral of benign cases. We aimed to develop an automated triage system using artificial intelligence (AI) to enable more accurate and rapid referral of cases, thereby addressing these issues.</p><p><strong>Methods: </strong>A retrospective dataset of H&E-stained whole slide images (WSI) of lymph nodes was taken from Newcastle University Hospital (302 cases) and Manchester Royal Infirmary Hospital (339 cases) with approximately equal representation of the 3 most prevalent lymphoma subtypes: follicular lymphoma, diffuse large B-cell and classic Hodgkin's lymphoma, as well as reactive controls. A subset (80%) of the data was used for training, a further validation subset (10%) for model selection and a final non-overlapping test subset (10%) for clinical evaluation.</p><p><strong>Results: </strong>AI triage achieved multiclass accuracy of 0.828±0.041 and overall accuracy of 0.932±0.024 when discriminating between reactive and malignant cases. Its ability to detect lymphoma was equivalent to that of two haematopathologists (0.925, 0.950) and higher than a non-specialist pathologist (0.75) repeating the same task. To aid explainability, the AI tool also provides uncertainty estimation and attention heatmaps.</p><p><strong>Conclusions: </strong>Automated triage using AI holds great promise in contributing to the accurate and timely diagnosis of lymphoma, ultimately benefiting patient care and outcomes.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"28-33"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72014407","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}
引用次数: 0
Impact of consensus molecular subtypes on survival with and without adjuvant chemotherapy in muscle-invasive urothelial bladder cancer. 一致的分子亚型对肌肉侵袭性尿路上皮性膀胱癌患者接受和不接受辅助化疗生存的影响。
IF 2.5 4区 医学
Journal of Clinical Pathology Pub Date : 2024-12-18 DOI: 10.1136/jcp-2023-208973
Florestan J Koll, Claudia Döring, Leon Herwig, Benedikt Hoeh, Mike Wenzel, Cristina Cano Garcia, Severine Banek, Luis Kluth, Jens Köllermann, Andreas Weigert, Felix K-H Chun, Peter Wild, Henning Reis
{"title":"Impact of consensus molecular subtypes on survival with and without adjuvant chemotherapy in muscle-invasive urothelial bladder cancer.","authors":"Florestan J Koll, Claudia Döring, Leon Herwig, Benedikt Hoeh, Mike Wenzel, Cristina Cano Garcia, Severine Banek, Luis Kluth, Jens Köllermann, Andreas Weigert, Felix K-H Chun, Peter Wild, Henning Reis","doi":"10.1136/jcp-2023-208973","DOIUrl":"10.1136/jcp-2023-208973","url":null,"abstract":"<p><strong>Aims: </strong>Adjuvant chemotherapy after radical cystectomy can reduce the risk of recurrence and death in advanced muscle-invasive urothelial bladder cancer (MIBC). Molecular subtypes have been shown to be associated with survival. However, their predictive value to guide treatment decisions is controversial and data to use subtypes as guidance for adjuvant chemotherapy is sparse. We aimed to assess survival rates based on MIBC consensus molecular subtypes with and without adjuvant chemotherapy.</p><p><strong>Methods: </strong>Gene expression profiles of 143 patients with MIBC undergoing radical cystectomy were determined from formalin-fixed, paraffin-embedded specimen to assign consensus molecular subtypes. Expression of programmed cell death ligand-1 (PD-L1) and immune cell infiltration were determined using multiplex immunofluorescence. Matched-pair analysis was performed to evaluate the effect of adjuvant chemotherapy on overall survival (OS) for molecular subtypes applying Kaplan-Meier and Cox regression survival analyses.</p><p><strong>Results: </strong>Samples were luminal papillary: 9.1% (n=13), luminal non-specified: 6.3% (n=9), luminal unstable: 4.9% (n=7), stroma-rich: 27.9% (n=40), basal/squamous (Ba/Sq): 48.9% (n=70) and neuroendocrine-like (NE-like): 2.8% (n=4). Ba/Sq tumours had the highest concentration of PD-L1+ tumour and immune cells. Patients with luminal subtypes had better OS than those with NE-like (HR 0.2, 95% CI 0.1 to 0.7, p<0.05) and Ba/Sq (HR 0.5, 95% CI 0.2 to 0.9, p<0.05). No survival benefit with adjuvant chemotherapy was observed for luminal tumours, whereas Ba/Sq had significantly improved survival rates with adjuvant chemotherapy. Retrospective design and sample size are the main limitations.</p><p><strong>Conclusion: </strong>Consensus molecular subtypes can be used to stratify patients with MIBC. Luminal tumours have the best prognosis and less benefit when receiving adjuvant chemotherapy compared with Ba/Sq tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"19-27"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291082","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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信