Virchows Archiv最新文献

{"title":"Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines.","authors":"Miriam Odensass, Stephan Bartels, Jerome Schlue, Guntram Büsche, Hans H Kreipe, Ulrich Lehmann","doi":"10.1007/s00428-024-03973-8","DOIUrl":"https://doi.org/10.1007/s00428-024-03973-8","url":null,"abstract":"<p><p>The majority of mastocytosis cases are characterized by an activating mutation in the KIT gene in codon 816. The detection of this alteration is of importance for proper diagnostic workup. Therefore, reliable and sensitive methods for the detection of KIT Codon 816 hotspot mutations in various types of patient samples are required. Since mutated cancer genes are often overexpressed, we evaluated the feasibility and sensitivity of KIT p.D816V detection by analysing mRNA/cDNA instead of genomic DNA. From 80 bone marrow trephines harboring a KIT p.D816 mutation, seven were only mutated by mRNA/cDNA pyrosequencing and 11 only by digital PCR analysis of genomic DNA. These results clearly demonstrate that detection of clinically relevant mutations in mRNA extracted from routinely processed decalcified archival bone marrow trephines is not only possible in a reliable fashion but under many circumstances advantageous. This enables the direct correlation of genomic data with high-quality morphological evaluation.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629039","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":"Sclerosing mucoepidermoid carcinoma of salivary glands.","authors":"Bacem Khalele Othman, Martina Bradová, Roderick H W Simpson, Jan Laco, Abbas Agaimy, Miguel Rito, Stephan Ihrler, Petr Steiner, Petr Grossmann, Veronika Hájková, Gisele de Rezende, Montse Goma, Senada Koljenovic, Isabel Fonseca, Michal Michal, Ilmo Leivo, Alena Skalova","doi":"10.1007/s00428-024-03970-x","DOIUrl":"https://doi.org/10.1007/s00428-024-03970-x","url":null,"abstract":"<p><p>Sclerosing mucoepidermoid carcinoma (SMEC) of the salivary glands is a rare variant of low-grade mucoepidermoid carcinoma with scanty cellular atypia characterized by marked fibrosis/sclerosis and a rich inflammatory infiltrate. Herein, we report 25 unpublished cases of SMEC, two of them with prominent eosinophilia (2/25; 8%) and three with abundant IgG4-positive plasma cells (3/25; 12%). In our series of salivary SMEC, molecular analysis using fluorescence in situ hybridization (FISH) and/or next-generation sequencing (NGS) provided evidence of MAML2 gene rearrangement in 18 cases of the 21 analyzable cases tested (86%), while this gene locus was intact in 3 cases (14%). This study focuses on the diagnostic criteria of salivary SMEC given its challenge of abundant collagenous stroma, minimal residual neoplastic areas, and inconspicuous mucous cells. Follow-up data of our cases indicate that salivary SMECs have favorable outcomes. Molecular analysis for MAML2 gene rearrangement suggests that SMECs of salivary glands represent a rare variant of conventional low-grade MECs of salivary glands. In contrast, SMECs of the thyroid gland are genetically distinct from salivary-type thyroid MECs.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629036","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":"Primary osseous tumors of the orbit.","authors":"Mariel Bedell, Rana Naous","doi":"10.1007/s00428-024-03975-6","DOIUrl":"https://doi.org/10.1007/s00428-024-03975-6","url":null,"abstract":"<p><p>This review article focuses on the various primary osseous tumors of the orbit. Due to overlapping clinical, radiologic, and histologic features, differentiating these entities can pose significant challenges diagnostically. In this review, emphasis is placed on key distinguishing clinical, morphologic, immunophenotypic, and molecular characteristics. Also described are important prognostic details, recurrence risks, and the gold standard treatment methods for each entity. Relevant genetic syndrome associations are additionally covered. Orbital bone entities discussed include osteoma, osteoid osteoma, osteoblastoma, ossifying fibroma, fibrous dysplasia, aneurysmal bone cyst, osteosarcoma, Ewing sarcoma, and mesenchymal chondrosarcoma.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629032","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":"Determination of Ki-67 indices in neuroendocrine tumours of the gastrointestinal tract: the past, the present, and the future.","authors":"Jacob A Houpt, Eric Liu, Hui Wang, Matthew J Cecchini, Charles Ling, Qi Zhang","doi":"10.1007/s00428-024-03963-w","DOIUrl":"https://doi.org/10.1007/s00428-024-03963-w","url":null,"abstract":"<p><p>Ki-67 index (Ki-67i) is integral to the grading of many tumours. There remains considerable variability across pathologists in methods used to determine Ki-67i and in their results. Manual counting (or \"eyeballing\") is widely used, but digital pathology tools such as web-based image analysis and artificial intelligence-assisted cell detection software have become available in daily pathology practice. This study aims to compare the accuracy and efficiency of manual and two digital methods of Ki-67i determination. H&E and Ki-67 immunohistochemical (IHC) slides/images of 12 gastrointestinal neuroendocrine tumours (GI-NETs) were provided to 8 pathologists to evaluate Ki-67i via manual estimation (ME; the \"past\"), web-based image analysis using cellular segmentation (AI4Path.ca; the \"present\"), and software-based image analysis with built-in AI algorithms (QuPath; the \"future\"). Data collected include Ki67i, time expended, total cells counted, and pathologists' confidence level in the reported result. Deviation of Ki-67i from a gold standard result (GS) was analyzed using multiple linear regression, and results were compared via paired t test. Our results found no statistically significant differences in Ki-67i deviation from GS when comparing ME and AI4P methods for all 12 cases. The QP Ki-67i detection accuracy varied significantly. ME was the method with the least time expenditure. Junior pathologists are less confident in ME. Grading consensus was comparable among all three methods. These findings suggest that while digital pathology can confer increased Ki-67i accuracy in some cases of GI-NETs, higher time expenditure and proper hotspot selection may represent barriers to the adoption of digital pathology methods in the future.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629028","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":"Correction to: \"Accelerated\" chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL): unraveling the biological gray zone of CLL/SLL in the era of novel therapies.","authors":"Brian Vadasz, Taylor Zak, Jonathan Aldinger, Madina Sukhanova, Juehua Gao, Kristy Lucile Wolniak, Yi-Hua Chen, Qing Ching Chen, Shuo Ma, Hamza Tariq","doi":"10.1007/s00428-024-03966-7","DOIUrl":"https://doi.org/10.1007/s00428-024-03966-7","url":null,"abstract":"","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628915","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":"Correction to: Colitis associated with persistent drug-induced immune dysregulation.","authors":"Johanna Köhler, Randolf Hammerl, Daniel M Mayer, Johannes Fessler, Cord Langner","doi":"10.1007/s00428-024-03965-8","DOIUrl":"10.1007/s00428-024-03965-8","url":null,"abstract":"","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629022","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 ante- and postmortem ventricular wall thickness using echocardiography and autopsy findings.","authors":"L Lohner, B Ondruschka, J Garland, R Tse, A I Suling, C Sinning","doi":"10.1007/s00428-024-03960-z","DOIUrl":"https://doi.org/10.1007/s00428-024-03960-z","url":null,"abstract":"<p><p>In autopsy practice, the thickness of ventricular walls is one of the parameters used to identify cardiac hypertrophy. The presented study aimed to compare ante- and postmortem measurements of ventricular wall thickness, (i) to determine a postmortem standardized localization and dissection method for ventricular wall measurements, and (ii) to determine the ability of postmortem measurements in recognition of antemortem hypertrophy. A single-center prospective study was conducted at the Institute of Legal Medicine in Hamburg, Germany. Sixty hearts were dissected alternating by the inflow-outflow or short-axis method, and the ventricular walls were measured at different locations and compared with the echocardiographic values of the end-diastolic phase during life of these individuals. The results showed measurement differences between the autoptic and echocardiographic values-for the left ventricle between 3.3 and 5.2 mm, for the right ventricle between 0.2 and 1.1 mm, and for the septum between 1.3 and 1.4 mm. Diagnostic performance of recognizing antemortem hypertrophy with postmortem measurement was poor, except for measuring the right ventricle and septum with the short-axis method (area under the ROC curve of 0.72 and 0.82, respectively). According to the results, cardiac changes may occur postmortem and need to be considered when used for diagnosing cardiac pathology. The postmortem diagnosis of left or right ventricular hypertrophy should always be made in conjunction with other, particularly cardiac, autopsy findings. An autoptic diagnosis of hypertrophy solely by a ventricular wall thickness > 15 mm or > 5 mm alone is not sufficient.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606635","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":"Thyroid cytology in pediatric patients: a single-center study from 2015 to 2023-is there a necessity for distinct treatment approaches for patients with and without autoimmune thyroiditis?","authors":"Monika Kujdowicz, Dominika Januś, Jan Radliński, Aleksandra Kiszka-Wiłkojć, Anna Taczanowska-Niemczuk, Damian Młynarski, Wojciech Górecki, Jerzy B Starzyk, Dariusz Adamek","doi":"10.1007/s00428-024-03959-6","DOIUrl":"https://doi.org/10.1007/s00428-024-03959-6","url":null,"abstract":"<p><p>The management of thyroid nodules is guided by the cytological classification provided by The Bethesda System for Reporting Thyroid Cytology. Notably, the biology of thyroid tumors in pediatric patients differs from that in adults, and there is limited research focused on pediatric cases. This study aimed to assess the effectiveness of the Bethesda system in pediatric patients treated at the largest tertiary pediatric thyroid center in Poland between 2015 and 2023. A retrospective analysis was conducted on 566 patients with thyroid nodules, of whom 555 underwent fine-needle aspiration biopsy (FNAB). A total of 217 patients underwent thyroid surgery. Of these, 206 had previously undergone FNAB with cytological evaluation at our center, while 11 patients underwent thyroid surgery due to a RET mutation or the need for an extended procedure. The initial FNAB results showed distribution across Bethesda categories as follows: 7.6% for category I, 54.6% for category II, 20.9% for category III, 4.1% for category IV, 7.6% for category V, and 5.6% for category VI. Among patients who underwent surgery, the distribution of Bethesda categories I through VI was 2.9%, 25.2%, 29.1%, 8.3%, 19.4%, and 15%, respectively. The risk of malignancy (ROM) from the initial FNAB was estimated at 33.3%, 11.5%, 22.2%, 4.8%, 84.4%, and 96.8% for Bethesda categories I through VI, respectively. In patients with autoimmune thyroiditis (AIT), the ROM was higher than in non-AIT patients for Bethesda categories I through IV, while it was lower in category VI. The sensitivity for detecting non-benign neoplasms across Bethesda categories III through VI was approximately 86% in both AIT and non-AIT patients. However, for papillary thyroid carcinoma, sensitivity in Bethesda categories V and VI was 86% in non-AIT patients but decreased to 61.5% in AIT patients. These findings emphasize the importance of considering surgical intervention in pediatric patients with Bethesda III-VI cytology, particularly in those with AIT.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576805","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":"Gastric-like (pseudopyloric and pseudofoveolar) metaplasia and Paneth cell hyperplasia-neglected histological features of chronic ileal inflammation.","authors":"Anita Sejben, Ágnes Bàthori, Fanni Hegedűs, Béla Vasas, Gregory Y Lauwers, Bence Kővári","doi":"10.1007/s00428-024-03954-x","DOIUrl":"https://doi.org/10.1007/s00428-024-03954-x","url":null,"abstract":"<p><p>Architectural distortion and basal plasmacytosis are the most widely recognized histologic features of chronic ileal inflammation. However, these features might be difficult to assess in small, poorly oriented, or superficial biopsies. Additional features of chronic mucosal damage, including pseudopyloric or pseudofoveolar metaplasia and Paneth cell hyperplasia, have been less commonly reported, and their broader appreciation could facilitate the diagnosis of chronic ileal inflammatory conditions. The prevalence of gastric-like (pseudopyloric and pseudofoveolar) metaplasia and Paneth cell hyperplasia was evaluated in 102 ileal biopsies obtained from patients with Crohn's disease (n = 47), ulcerative colitis with endoscopically normal ileum (n = 20) or with backwash ileitis (n = 20), and nonsteroidal anti-inflammatory drugs- (NSAIDs-) induced ileitis (n = 15). Gastric-like metaplasia was identified in 23% of CD and 13% of NSAID-induced ileitis cases, whereas it was absent among all ulcerative colitis cases. Pseudopyloric metaplasia, pseudofoveolar metaplasia, or a combination of both was documented in 13%, 2%, and 9% of Crohn's disease cases, respectively. NSAID-associated cases showed only pseudopyloric metaplasia. Paneth cell hyperplasia was detected in 43% of Crohn's disease cases, 13% of NSAID-induced ileitis cases, and 5% of backwash ileitis cases. Accordingly, pseudofoveolar metaplasia, pseudopyloric metaplasia, and Paneth cell hyperplasia are not uncommon in conditions causing chronic ileal inflammation. They are most frequently detected in Crohn's disease, but may also be present in NSAID-induced ileitis, whereas they are significantly less common in backwash ileitis and absent in normal ileum. Given the surface localization of pseudofoveolar metaplasia, its identification can be particularly helpful when dealing with poorly oriented or superficial samples.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576695","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":"Digital spatial profiling for pathologists.","authors":"Benedetta Donati, Gloria Manzotti, Federica Torricelli, Cristian Ascione, Riccardo Valli, Giacomo Santandrea, Moira Ragazzi, Eleonora Zanetti, Alessia Ciarrocchi, Simonetta Piana","doi":"10.1007/s00428-024-03955-w","DOIUrl":"https://doi.org/10.1007/s00428-024-03955-w","url":null,"abstract":"<p><p>The advent of \"omics\" technologies for high-depth tumor profiling has provided new information regarding cancer heterogeneity. However, a bulk omics profile can only partially reproduce tumor complexity, and it does not meet the preferences of pathologists used to perform an in situ assessment of marker expression, for instance, with immunohistochemistry. The NanoString GeoMx® Digital Spatial Profiler (DSP) is a platform for morphology-guided multiplex profiling of tissue slides, which allows the digital quantification of target analytes in different neoplastic settings. To illustrate the feasibility and opportunities offered by DSP from a pathologist's perspective, we applied DSP in three different representative neoplastic settings: breast carcinoma, thyroid anaplastic carcinoma, and biphasic mesothelioma. Because of the perfect overlap between the hematoxylin-eosin-stained slide and the GeoMx areas of interest, in breast carcinoma, two different antibodies allowed the distinction of the tumor cells from the surrounding tumor microenvironment. In biphasic mesothelioma, we could distinguish the epithelioid from the sarcomatoid neoplastic component, and in the thyroid, we easily separated the anaplastic areas from the well-differentiated carcinoma. DSP is a promising tool that combines traditional histological evaluation, allowing spatial assessment of a tumor and its surroundings, and innovative in situ digital profiling. Pathologists should not miss the opportunity to combine morphological and genomic analyses and be at the forefront of investigating the progression of dysplasia/neoplasia, low-grade or high-grade, epithelial/mesenchymal, and, more in general, overcoming the concept of in situ vs. bulk genomic methods.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584408","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}