Pathology最新文献

{"title":"Signet-ring pleomorphic plasma cells: a potential diagnostic pitfall in multiple myeloma.","authors":"Badr AbdullGaffar, Mohamed Burney","doi":"10.1016/j.pathol.2025.05.014","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.014","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic mastocytosis in paediatric acute myeloid leukaemia with RUNX1::RUNX1T1 fusion.","authors":"Nicolé A Smith, Lauren Lemkus, Helder de Quintal, Jessica Opie, Jenique Bailly","doi":"10.1016/j.pathol.2025.05.015","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.015","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the conventional and alternative methods of measuring depth of invasion of vulvar squamous cell carcinoma using whole-slide digital pathology images.","authors":"Nikka Khorsandi, Peyman Samghabadi, Cynthia Gasper","doi":"10.1016/j.pathol.2025.05.011","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.011","url":null,"abstract":"<p><p>The accurate staging of stage 1 vulvar squamous cell carcinoma has been complicated by multiple definitions of how to measure depth of invasion (DOI). These differences create a subset of tumours that by the alternative method would be classified as stage IA but by the conventional method are classified as stage IB. This study evaluates the clinical outcomes of patients who were down-staged from IB to IA using the alternative method as opposed to the conventional method. Another analysis compared DOI measurement using an ocular micrometer on glass slides versus digital ruler with digitised slides. A total of 46 stage I (IA or IB) vulvar squamous cell carcinomas were identified; 11 were classified as stage IB if the conventional method was used but down-staged if the alternative definition was used. Down-staged patients with clinical follow-up data showed no recurrent lymph node involvement, while three of the 22 patients consistently staged as IB showed recurrent lymph node involvement. Digital ruler measurements of DOI were, on average, over 1 ​mm less than the manual ocular micrometer measurements. These data support prior publications that encourage the use of the alternative method of DOI measurement as a more conservative approach to staging vulvar squamous cell carcinoma and avoiding lymph node sampling in a subset of patients who do not show as high a risk of nodal metastasis. Additionally, this study highlights a more conservative DOI measurement when using a digital measuring ruler than while using the manual ocular micrometer.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uterine leiomyosarcoma with malignant perivascular epithelioid cell tumour-like dedifferentiation.","authors":"Juan C Tardío, Laura Castillo","doi":"10.1016/j.pathol.2025.05.009","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Supervised machine learning model for serum protein electrophoresis data interpretation.","authors":"Yee-Ting Cheung, Hoi-Shan Leung, Jeremiah Sik-Bit Tseung, Kelvin Yat-Chung Yu, Mei-Tik Stella Leung, Chor-Kwan Ching, Yeow-Kuan Chong","doi":"10.1016/j.pathol.2025.05.010","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.010","url":null,"abstract":"<p><p>Serum protein electrophoresis (SPE) is a frequently employed laboratory test in clinical settings, with over 10,000 requests per annum in our centre. It is primarily utilised for the diagnosis and monitoring of paraproteinaemia. Interpretation on SPE is time-consuming and relies on the expertise of pathologists, with potential interobserver variability. Assistance from machine learning algorithms could improve efficiency and objectiveness. Digitised capillary electrophoresis (CE) tracings acquired using the Sebia Minicap Protein(E) 6 kit were extracted from the analyser, and corresponding reports for SPE were obtained from the laboratory information systems of Princess Margaret Hospital (PMH) and Tuen Mun Hospital (TMH). Three artificial neural networks (for fractionation, classification and location plus quantification) were trained and evaluated against reference interpretations from one to two pathologists. Samples from PMH constitute the training datasets. Trained models were subsequently evaluated with samples from TMH. A total of 41,448 and 24,501 CE tracings and corresponding reports for SPE, spanning from October 2014 to November 2022, were obtained from PMH and TMH, respectively; 25,661-41,014 samples from PMH constituted the training datasets. Trained models were subsequently evaluated with 24,238 samples from TMH. The classification model achieved an area under the receiver operating characteristic curve of 0.976 in the testing dataset, with an agreement rate of 93.8%. The fractionation model had mean and standard deviation difference from reported manual fractioning of -0.0884 to 0.155 g/L and 0.315 to 2.04 g/L, respectively, across the six serum protein bands. Peak quantification by the location plus quantification model correlated with manual quantification, with Spearman's r of 0.976. The machine learning models achieved near-human performances. They enabled high-throughput SPE analyses and interpretation and improved objectiveness and reproducibility of results.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Linking p53 immunostaining to TP53 mutation status in patients with non-small cell lung cancer.","authors":"Taeyeong Kim, Suyeon Kim, Sangjin Lee, Soohyun Hwang, Joungho Han, Hoyeon Jeong, Yoon-La Choi","doi":"10.1016/j.pathol.2025.05.007","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.007","url":null,"abstract":"<p><p>TP53 mutations, which are prevalent in patients with non-small cell lung cancer (NSCLC), play a crucial role in carcinogenesis, are associated with poor prognosis ​and significantly contribute to resistance against key therapeutic options, such as chemotherapy, epidermal growth factor receptor tyrosine kinase inhibitors, and immunotherapy. However, sequencing of tissues from all patients to detect TP53 mutations is challenging. This study represents the first comprehensive analysis of the correlation between p53 immunohistochemical (IHC) staining and TP53 mutations in patients with NSCLC. This study aimed to examine the relationship between p53 IHC staining patterns and TP53 mutations using next-generation sequencing in 200 patients with NSCLCs. TP53 mutations were found in 122 patients (61%) and showed significant associations with sex, smoking status, and tumour mutation burden. A 20% cut-off for p53 IHC staining was optimal for predicting TP53 mutations, particularly missense variants. Correlation with TP53 mutation types revealed that 0% staining (complete loss pattern) was linked with truncating mutations, 1-19% staining (wild-type pattern) with wild-type TP53, and ≥20% staining (accumulation pattern) with missense mutations. These classifications were consistent with the findings of 184 patients (92%), whereas discrepancies were observed in 16 patients (8%), often owing to intratumoural heterogeneity. Patients with hotspot or critical region mutations exhibited higher concordance between p53 IHC and TP53 mutation status. In conclusion, p53 IHC staining is a reliable method for predicting TP53 mutations in patients with NSCLC and has significant implications for predicting prognosis and therapeutic responses.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-level STING expression in tumour and inflammatory cells is linked to microsatellite instability and favourable tumour parameters in a cohort of over 1,900 colorectal cancer patients.","authors":"Elena Bady, Julia Ebner, Tim Mandelkow, Zhihao Huang, Michael Neipp, Hamid Mofid, Hannes Lárusson, Thies Daniels, Christoph Isbert, Stephan Coerper, Daniel Ditterich, Holger Rupprecht, Albert Goetz, Christian Bernreuther, Guido Sauter, Ria Uhlig, Waldemar Wilczak, Ronald Simon, Stefan Steurer, Sarah Minner, Eike Burandt, Till Krech, Thilo Hackert, Nathaniel Melling, Nina Schraps, Till S Clauditz, Andreas H Marx, Jan H Müller","doi":"10.1016/j.pathol.2025.05.008","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.05.008","url":null,"abstract":"<p><p>The stimulator of interferon genes (STING) is expressed on various cell types and tumour entities, where it might enhance antitumoural effects of the immune system and impact tumour angiogenesis. However, the clinical significance of STING expression in tumour cells as compared to tumour-associated inflammatory cells is not fully resolved. To evaluate the clinical significance of STING expression in different cell types of colorectal cancer (CRC), 1,905 patients were analysed by multiplex fluorescence immunohistochemistry in a tissue microarray format in combination with a deep learning algorithm for automated cell detection. High STING expression on tumour was associated with microsatellite instability (MSI, p<0.0001), low tumour stage (pT, p=0.0013), absence of nodal metastasis (pN, p=0.0003) and tumour localisation in the right colon (p<0.0001). Subgroup analysis of tumours with and without MSI did not show associations between STING expression on tumour cells and pT or pN. While the number of CD68^- leukocytes and macrophages was related to MSI, low pT ​and pN0, there were significant associations between a high percentage of STING-positive macrophages and CD68^- leukocytes to low pT (p<0.0001 each) and the absence of metastases for a high percentage of STING-positive macrophages (p=0.0033). In summary, our data show that high STING expression in tumour cells is strongly linked to MSI while STING expression on macrophages and CD68^- leukocytes is tightly linked to the extent of tumour-associated inflammation in CRC.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laboratory diagnosis of congenital and acquired coagulopathies, including challenging-to-diagnose rare bleeding disorders","authors":"Rabab Al Dawood ,&nbsp;Catherine P.M. Hayward","doi":"10.1016/j.pathol.2025.06.004","DOIUrl":"10.1016/j.pathol.2025.06.004","url":null,"abstract":"<div><div>Coagulation factors, anticoagulant proteins, and fibrinolytic proteins are important for haemostasis and may be altered by inherited and acquired conditions. Common causes of coagulopathies include vitamin K (VK) deficiency (VKD), liver disease, lupus anticoagulants, consumption or disseminated intravascular coagulation, and much less commonly, an inherited or an acquired autoimmune coagulopathy. VKD typically accounts for ≥30% of all coagulopathy referrals, and VKD is particularly common among infants but can occur at any age and in combination with other coagulopathies. Tests for fibrinogen help assess both congenital and acquired coagulopathies, with low levels predictive of poor outcomes from diverse conditions including trauma and postpartum haemorrhage. Inherited factor deficiencies are rarer, and some affect multiple coagulation factors (F), such as combined FV and FVIII deficiency, familial deficiencies of VK-dependent clotting factors, and congenital disorders of glycosylation. Additionally, there are some rare but important disorders that uniquely impair the procoagulant/anticoagulant balance, including <em>F5</em> mutations that markedly increase tissue factor pathway inhibitor in plasma, causing prolonged prothrombin and activated partial thromboplastin times, without factor deficiencies. <em>THBD</em> mutations that increase functional, soluble thrombomodulin in plasma can also cause bleeding. Other <em>THBD</em> mutations cause thrombomodulin deficiency and a consumptive coagulopathy. Bleeding disorders that result from pathogenic changes to fibrinolysis include autosomal recessive, loss-of-function mutations in <em>SERPINE1</em> and <em>SERPINF2</em> and an autosomal dominant gain-of-function mutation affecting <em>PLAU,</em> in the case of Quebec platelet disorder, which causes platelet-dependent increased fibrinolysis. Laboratories need to consider strategies for diagnosing these different conditions.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 687-695"},"PeriodicalIF":3.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antimicrobial susceptibility testing and clinical outcomes of non-cystic fibrosis Burkholderia cepacia complex infections","authors":"Jinghao Nicholas Ngiam ,&nbsp;Matthew Chung Yi Koh ,&nbsp;Patsy Soh ,&nbsp;Jeanette Teo ,&nbsp;Ka Lip Chew","doi":"10.1016/j.pathol.2025.05.006","DOIUrl":"10.1016/j.pathol.2025.05.006","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 780-784"},"PeriodicalIF":3.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Small cell carcinoma of the ovary, hypercalcaemic type with concurrent immature teratoma and yolk sac tumour: a case report with molecular analysis to emphasise the germ cell origin","authors":"Yun Liang ,&nbsp;Xiuli Zhang ,&nbsp;Xiaofei Zhang ,&nbsp;Bingjian Lu","doi":"10.1016/j.pathol.2025.05.005","DOIUrl":"10.1016/j.pathol.2025.05.005","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 788-790"},"PeriodicalIF":3.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}