Diagnostic Pathology最新文献

{"title":"Correction: Tumor Area Positivity (TAP) score of programmed death-ligand 1 (PD-L1): a novel visual estimation method for combined tumor cell and immune cell scoring.","authors":"Chunyan Liu, Fang Fang, Ying Kong, Ehab A ElGabry","doi":"10.1186/s13000-025-01605-6","DOIUrl":"10.1186/s13000-025-01605-6","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"20"},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Description of two cases of follicular dendritic cell sarcoma, including next-generation sequencing analysis.","authors":"Yuchen Jing, Hua Ye, Shuai Luo, Jinjing Wang","doi":"10.1186/s13000-025-01614-5","DOIUrl":"10.1186/s13000-025-01614-5","url":null,"abstract":"<p><p>Follicular dendritic cell sarcoma (FDCS), an infrequent malignancy, poses diagnostic challenges due to its nonspecific clinical presentations and propensity for recurrence and metastasis, particularly when assessed through imaging modalities. Accurate diagnosis relies heavily on pathological morphology and immunohistochemical analysis. This study examines two FDCS cases from the Affiliated Hospital of Zunyi Medical University. Next-generation sequencing (NGS) identified three gene rearrangements-HFM1::BIRC3, ELF4::AIFM1, and DIP2B::WIF1 -in one case, while no genetic alterations were detected in the other. The report explores clinicopathological characteristics, molecular genetics, differential diagnosis, therapeutic approaches, and prognosis to enhance diagnostic and pathological understanding of FDCS in medical practice.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"19"},"PeriodicalIF":2.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of the 30-bp deletion and protein expression of Epstein-Barr virus latent membrane protein 1 in extranodal NK/T cell lymphoma and its clinicopathological significance.","authors":"Xingmei Lu, Qingsong Han, Peng Li, Kate Huang, Xiuhuan Ji, Suidan Chen, Rixu Lin, Xiaoyu Wang","doi":"10.1186/s13000-025-01607-4","DOIUrl":"10.1186/s13000-025-01607-4","url":null,"abstract":"<p><strong>Background: </strong>Extranodal natural killer/T-cell lymphoma (ENKTCL) is strongly associated with Epstein-Barr virus (EBV) infection. A 30-base-pair deletion in latent membrane protein 1 (del-LMP1) represents the most common variant in the EBV genome, but its clinicopathological significance in ENKTCL remains poorly elucidated. Some scholars suggested that the LMP1 protein product carrying the deletion gene reduced immunogenicity, allowed it to escape immune surveillance in immunocompetent hosts and confer a survival advantage. Therefore, simultaneous assessment of del-LMP1 and LMP1 protein expression may provide deeper insights into the potential role of LMP1 in ENKTCL tumorigenesis and progression. This study aimed to investigate the impact of del-LMP1 and LMP1 protein expression on the clinicopathological manifestations and prognosis of ENKTCL patients in Wenzhou.</p><p><strong>Methods: </strong>The clinical and histological characteristics of 42 ENKTCL cases were retrospectively evaluated. Del-LMP1 was detected using a nested polymerase chain reaction and Sanger sequencing, while LMP1 protein expression was assessed via immunohistochemistry. Overall survival (OS) was analyzed.</p><p><strong>Results: </strong>The LMP1 gene was identified in 37/42 ENKTCL cases, including 2 wild-type (wt-LMP1), 35 del-LMP1 cases. LMP1 protein expression was positive in 21/42 cases. In the control group, the LMP1 gene was detected in 6/10 cases, all of which were del-LMP1, and the LMP1 protein was positive in 4/10 cases. Fisher's exact test revealed no significant differences between the two groups in the LMP1 gene, del-LMP1, or LMP1 protein expression. Additionally, there was no significant correlation between del-LMP1 and LMP1 protein expression and clinical characteristics such as age, gender, or vascular invasion. However, LMP1 protein expression was significantly higher in necrotic tissues (p = 0.030) and younger patients with del-LMP1 (p = 0.004). Survival analysis showed no significant difference in OS between wt-LMP1 and del-LMP1 patients (p = 0.331) or between LMP1-positive and -negative cases (p = 0.592).</p><p><strong>Conclusion: </strong>In this retrospective cohort, we demonstrated that del-LMP1 might be the predominant variant rather than a phenotype-associated polymorphism in ENKTCL from a molecular epidemiological perspective. Moreover, LMP1 protein expression was associated with necrotic tissue and younger patients with del-LMP1, possibly due to the enhanced pathogenic effect of the mutated LMP1 isolate protein.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"18"},"PeriodicalIF":2.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11823043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An update on applications of digital pathology: primary diagnosis; telepathology, education and research.","authors":"Shamail Zia, Isil Z Yildiz-Aktas, Fazail Zia, Anil V Parwani","doi":"10.1186/s13000-025-01610-9","DOIUrl":"10.1186/s13000-025-01610-9","url":null,"abstract":"<p><p>Digital Pathology or whole slide imaging (WSI) is a diagnostic evaluation technique that produces digital images of high quality from tissue fragments. These images are formed on glass slides and evaluated by pathologist with the aid of microscope. As the concept of digital pathology is introduced, these high quality images are digitized and produced on-screen whole slide images in the form of digital files. This has paved the way for pathologists to collaborate with other pathology professionals in case of any additional recommendations and also provides remote working opportunities. The application of digital pathology in clinical practice is glazed with several advantages and adopted by pathologists and researchers for clinical, educational and research purposes. Moreover, digital pathology system integration requires an intensive effort from multiple stakeholders. All pathology departments have different needs, case usage, and blueprints, even though the framework elements and variables for effective clinical integration can be applied to any institution aiming for digital transformation. This article reviews the background and developmental phases of digital pathology and its application in clinical services, educational and research activities.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"17"},"PeriodicalIF":2.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological diagnosis of morphea-like carcinoma en cuirasse in the neck: a rare presentation of lung cancer.","authors":"Yue Lin, Shulan Zhou, Wei He","doi":"10.1186/s13000-025-01611-8","DOIUrl":"10.1186/s13000-025-01611-8","url":null,"abstract":"<p><strong>Background: </strong>Carcinoma en cuirasse is mostly reported in breast cancer. It rarely originates from other visceral tumors such as lung cancer. In this report, we highlight the importance of skin biopsy not to make a misdiagnosis or missed diagnosis.</p><p><strong>Case presentation: </strong>We report a 51-year-old male, diagnosed with lung adenocarcinoma 2 years ago, presenting as swelling and hardening of the face and neck. The patient was diagnosed with carcinoma en cuirasse from lung cancer and was transferred to the oncology department for further management. Unfortunately, the patient gave up treatment after 3 months and died after 1 year of follow-up.</p><p><strong>Conclusion: </strong>In patients with tumors that present as swelling and hardening of the skin, the possibility of skin metastases should be considered, and the necessity of early skin biopsy should be taken into account.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"16"},"PeriodicalIF":2.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of C216T and hot spot mutations of the TERT promoter on the clinicopathologic characteristics and S100A10 expression in papillary thyroid carcinoma: a comparative study.","authors":"Ping Li, Chuqiang Huang, Xiaoling Liu, Huihui Gui, Jian Li","doi":"10.1186/s13000-025-01613-6","DOIUrl":"10.1186/s13000-025-01613-6","url":null,"abstract":"<p><strong>Objective: </strong>The C216T mutation in the TERT promoter (TERTp) is a rarely reported genetic alteration in papillary thyroid carcinoma (PTC). Its clinical significance remains unclear. This study aimed to compare the impact of the C216T and hot spot mutations (C228T and C250T) of TERTp on the clinicopathologic characteristics and the expression of S100A10, a member of the S100 protein family, in PTC.</p><p><strong>Methods: </strong>In this retrospective study, a cohort comprising 8 PTC cases with the C216T mutation, 12 cases with the hot spot mutations, and 120 cases with the wildtype genotype was established. The influence of TERTp mutations on the clinicopathologic profiles of PTC was assessed.</p><p><strong>Results: </strong>The C216T mutation was mutually exclusive with the hot spot mutations and its frequency (0.19%) fell between that of C228T (0.68%) and C250T (0.06%). Compared to PTC cases with the wildtype genotype, cases with C216T mutations did not exhibit significant differences in clinicopathologic characteristics and S100A10 expression levels. In contrast, the hot spot mutations were positively associated with extrathyroidal extension (p = 0.001), ATA recurrence risk (p < 0.001), AJCC staging (p < 0.001), and increased expression of S100A10 (p = 0.005). Furthermore, a significant correlation was found between S100A10 expression and extrathyroidal extension (p = 0.005), lymph node metastasis (p = 0.013), and ATA recurrence risk (p = 0.023).</p><p><strong>Conclusion: </strong>The C216T mutation did not induce the aggressiveness of PTC as the hot spot mutations did. Furthermore, the hot spot mutations were closely associated with the increased expression of S100A10. The latter may contribute to the pro-invasive effect of the hot spot mutations on PTC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"15"},"PeriodicalIF":2.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11816782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity.","authors":"Veronika Navrkalova, Andrea Mareckova, Jakub Porc, Samuel Hricko, Viera Hrabcakova, Jarmila Kissova, Sona Kundova, Marie Jarosova, Sarka Pospisilova, Jana Kotaskova, Andrea Janikova","doi":"10.1186/s13000-025-01609-2","DOIUrl":"10.1186/s13000-025-01609-2","url":null,"abstract":"<p><p>High-grade B-cell lymphomas (HGBCLs) are aggressive blood cancers with a severe disease course, especially when the central nervous system (CNS) is involved. Standard histological examination depends on tissue availability and is currently supplemented with molecular tests, as the status of MYC, BCL2, or BCL6 gene rearrangements is required for proper lymphoma classification. This case report demonstrates the relevance of cerebrospinal fluid (CSF) cell-free DNA testing by integrative next-generation sequencing (NGS) panel. The benefit of this approach resided in tumor genotyping alongside the proof of CNS progression despite MRI negativity, revealing a clonal relationship with the primary tumor lesion. In addition, our strategy allowed us to classify the tumor as DLBCL/HGBL-MYC/BCL2 entity. In clinical practice, such a minimally invasive approach provides a more sensitive tool than standard imaging and cell analyzing techniques, enabling more accurate disease monitoring and relapse prediction in particular cases.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"14"},"PeriodicalIF":2.4,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-screening of endomysial microvessel density by fast random forest image processing machine learning algorithm accelerates recognition of a modified vascular network in idiopathic inflammatory myopathies.","authors":"Alessandro Massaro, Gerardo Cazzato, Giuseppe Ingravallo, Nadia Casatta, Carmelo Lupo, Angelo Vacca, Florenzo Iannone, Francesco Girolamo","doi":"10.1186/s13000-025-01608-3","DOIUrl":"10.1186/s13000-025-01608-3","url":null,"abstract":"<p><p>Biomarkers for discrimination among different subgroups of idiopathic inflammatory myopathies (IIM) are difficult to identify and may involve multiple laboratory tests and time-consuming procedures. We assessed the potential for artificial intelligence (AI) to extract features such as density of endomysial microvessels based on automatic analysis of the CD31⁺ vascular network on muscle biopsy images. We also assessed the potential of this technique to save time and its agreement rate with analyses based on the manual selection of microvessels from the same images. A total of 84 images from 84 patients with IIM, diagnosed between 2014 and 2020, were retrieved and analyzed using the Fast Random Forest (FRF) technique. We built a lightweight and explainable algorithm for calculating the pixel percentage of CD31⁺ endomysial capillaries. The FRF technique applied on images of CD31-stained muscle sections achieved a good performance in the recognition of microvessels by estimating their density over a standard area corresponding to a sample of microscope image. The time spent for this analysis was 90% less than the manual choice of microvessels (estimated time considering the computational time and the time spent to manually detecting the microvessels features). The good performance of the FRF demonstrates that the CD31 pixel percentage of endomysial capillaries is sufficient for a correct estimation. Finally, the paper proposes a procedure to integrate AI in the pre-screening process.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"13"},"PeriodicalIF":2.4,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Oral mucosal changes caused by nicotine pouches: case series.","authors":"Sintija Miluna-Meldere, Sarlote Agate Vanka, Ingus Skadins, Juta Kroica, Maris Sperga, Dagnija Rostoka","doi":"10.1186/s13000-025-01606-5","DOIUrl":"10.1186/s13000-025-01606-5","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"12"},"PeriodicalIF":2.4,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors.","authors":"Meng Zhang, Xingfeng Yao, Nan Zhang, Yongbo Yu, Chao Jia, Xiaoxing Guan, Wenjian Xu, Xin Ni, Yongli Guo, Lejian He","doi":"10.1186/s13000-025-01604-7","DOIUrl":"10.1186/s13000-025-01604-7","url":null,"abstract":"<p><strong>Background: </strong>A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and gene fusions (BCOR::CCNB3 and BCOR::MAML3), as well as YWHAE::NUTM2, which are found in clear cell sarcoma of the kidney (CCSK), sarcoma with BCOR genetic alterations, primitive myxoid mesenchymal tumor of infancy, and high-grade neuroepithelial tumors in children. Detecting these gene aberrations is crucial for tumor diagnosis. ITDs can be identified by Sanger sequencing or agarose gel electrophoresis. However, gene fusions are usually detected through reverse transcription-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization. Methods that analyze these variants simultaneously in a sensitive and convenient manner are lacking in clinical practice.</p><p><strong>Methods: </strong>This study validated a Universal Fluorescence Multiplex PCR-based assay that assessed BCOR ITDs, BCOR::CCNB3, BCOR::MAML3 and YWHAE::NUTM2 fusions simultaneously.</p><p><strong>Results: </strong>The assay achieved a detection threshold of 10 copies for fusion genes and 0.32 ng genomic DNA for BCOR ITDs. The performance of this assay was also tested in a cohort of 43 pediatric tumors (17 undifferentiated small round cell sarcomas, and 26 tumors with a histological diagnosis of CCSK). In total, 20 BCOR ITDs, 4 BCOR::CCNB3 and one YWHAE::NUTM2 were detected. When compared with the final diagnosis, the assay achieved 93% sensitivity and 100% specificity.</p><p><strong>Conclusions: </strong>Accordingly, this assay provided an effective and convenient method for detecting BCOR- and YWHAE-related abnormalities in tumors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"11"},"PeriodicalIF":2.4,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}