{"title":"[Rare diseases: the tip of an iceberg].","authors":"Philipp Ströbel","doi":"10.1007/s00292-025-01427-9","DOIUrl":"https://doi.org/10.1007/s00292-025-01427-9","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":"46 3","pages":"140-141"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mitteilungen der Deutschen Gesellschaft für Pathologie.","authors":"","doi":"10.1007/s00292-025-01428-8","DOIUrl":"https://doi.org/10.1007/s00292-025-01428-8","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":"46 3","pages":"194"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Argyris Papantonis, Stephan Rogalla, Christian Dullin, Frauke Alves, Hanibal Bohnenberger
{"title":"[New methods at the transition from research to routine diagnostics].","authors":"Argyris Papantonis, Stephan Rogalla, Christian Dullin, Frauke Alves, Hanibal Bohnenberger","doi":"10.1007/s00292-024-01412-8","DOIUrl":"10.1007/s00292-024-01412-8","url":null,"abstract":"<p><strong>Background: </strong>Pathology, traditionally focused on classification and diagnosis, is continuously evolving through new technologies. Advances in proteomics, epigenetics, tissue staining, and 3D imaging expand the possibilities of classical morphology.</p><p><strong>Aim of the study: </strong>The aim of this study was to investigate how modern technologies can improve diagnostic accuracy and therapy selection and how they can be integrated into pathologic routine diagnostics.</p><p><strong>Materials and methods: </strong>Recent studies in proteomics, epigenetics, multiplex tissue staining, and 3D tissue imaging were analyzed to assess their application and the challenges of clinical implementation.</p><p><strong>Results: </strong>The analysis shows significant potential for pathologic diagnostics. Proteomics provides a deeper understanding of the molecular architecture of tumors, while epigenetics and 3D genome architecture offer new insights into genetic regulation and tumor heterogeneity. Multiplex tissue staining and 3D tissue imaging improve spatial tissue analysis.</p><p><strong>Discussion: </strong>Despite the potential to improve diagnostics, high costs, technical complexity, and lack of standardization hinder integration into clinical practice. Nevertheless, these technologies offer promising approaches for optimizing diagnostics and therapy selection. Research and interdisciplinary collaboration are crucial to successfully integrating these innovations into routine clinical practice.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":"156-162"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander Marx, Philipp Ströbel, Felix Bremmer, Daniel Nettersheim, Niels J Rupp, Eva Wardelmann, Wolfgang Hartmann
{"title":"[Challenges in the research and diagnosis of rare diseases].","authors":"Alexander Marx, Philipp Ströbel, Felix Bremmer, Daniel Nettersheim, Niels J Rupp, Eva Wardelmann, Wolfgang Hartmann","doi":"10.1007/s00292-025-01426-w","DOIUrl":"10.1007/s00292-025-01426-w","url":null,"abstract":"<p><p>Molecular methods have improved the diagnosis of many rare tumors but have also revealed their limitations. Gene fusions that originally appeared specific occur \"promiscuously\" in biologically distinct mesenchymal and epithelial tumors, underscoring the importance of integrated morphologic-molecular diagnostics. By contrast, similar tumor biology-which is difficult to prove in rare tumors-supports the concept of entity-defining gene fusions for a spectrum of morphologically diverse tumors. Still other rare tumors have no diagnostically or prognostically helpful molecular profile, and their rarity and lack of authentic tumor models are obstacles to the use of, for example, new single-cell-based molecular or AI-assisted morphological methods and preclinical functional analyses. These peculiarities of rare tumors are illustrated by thymic, testicular, salivary gland, and soft tissue neoplasms.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":"142-151"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143775052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frederick Klauschen, Jonas Dippel, Klaus-Robert Müller
{"title":"[Foundation models in pathology].","authors":"Frederick Klauschen, Jonas Dippel, Klaus-Robert Müller","doi":"10.1007/s00292-025-01429-7","DOIUrl":"https://doi.org/10.1007/s00292-025-01429-7","url":null,"abstract":"<p><p>Foundation models prepare neural networks for applications in specific domains, such as speech applications or image analysis, through self-supervised pretraining. These models can be adapted for specific applications, such as histopathological diagnostics. While adaptation still requires supervised training, AI applications based on foundation models achieve significantly better prediction accuracy with fewer training data compared to conventional approaches. This article introduces the topic and provides an overview of foundation models in pathology.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":"46 3","pages":"152-155"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Teaching pathology in Germany : The current state of teaching at pathological institutes of German universities in 2024].","authors":"Alexander Fichtner, Christiane Kümpers","doi":"10.1007/s00292-025-01424-y","DOIUrl":"10.1007/s00292-025-01424-y","url":null,"abstract":"<p><p>The teaching of pathology at the 36 university departments of pathology is influenced by different curriculum structures. Teaching formats and the number of course hours vary considerably in some cases, partly due to structural circumstances at different locations. The teaching content appears to be largely congruent. Most of the medical staff are involved in teaching. The postgraduate training assistants would like good training and time to prepare the courses. The institute directors predominantly rate teaching as very important or important for them personally, whereas their satisfaction with the overall teaching situation at the locations is rated as \"moderate.\" Students are largely satisfied with teaching. In addition to structured, interdisciplinary, and practical teaching, suggestions for improvement include, in particular, opportunities to participate in autopsies, the use of digital formats (e.g., in lectures, microscopy courses), a more precise introduction to the assessment of histopathological findings, and a better presentation of the fields of activity in pathology. Attempts should be made throughout Germany to standardize teaching more in order to better represent the subject to deaneries and examination offices. In addition, efforts should be made to modernize teaching content and methods to make the subject more attractive to potential new recruits.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":"163-170"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Julia Müller, Blake Gilks, Jessica McAlpine, Grit Gesine Ruth Hiller, Anne Kathrin Höhn, Lars-Christian Horn
{"title":"[Incidental diagnosis of lymphangioleiomyomatosis in gynecological surgery-a case series].","authors":"Julia Müller, Blake Gilks, Jessica McAlpine, Grit Gesine Ruth Hiller, Anne Kathrin Höhn, Lars-Christian Horn","doi":"10.1007/s00292-025-01414-0","DOIUrl":"10.1007/s00292-025-01414-0","url":null,"abstract":"<p><strong>Background: </strong>Lymphangioleiomyomatosis (LAM) is a rare, slow progressing, low-grade neoplasia that primarily effects young women. The disease is well known for its pulmonary involvement with cystic destruction, but extra-pulmonary disease may occur. LAM is associated with mutations in the TSC 1 or TSC 2 genes and may develop sporadically or in the context of hereditary disease tuberous sclerosis complex (TSC). Incident LAM may represent the sentinel finding of the disease.</p><p><strong>Objective: </strong>Raising awareness for rare extrapulmonary LAM lesions in retroperitoneum and pelvic cavity.</p><p><strong>Methods: </strong>Data-based research was performed for LAM in gynecological surgical specimens. H&E-stained slides were re-examined, and immunohistochemical stains were re-evaluated. Clinical data were retrieved for the presence pulmonary LAM or TSC.</p><p><strong>Results: </strong>A total of 13 cases were identified. The age of the patients ranged from 32 to 77 years, and 8/13 were ≤ 55 years. Two women had a history of pulmonary LAM and TSC. Most women underwent surgery for gynecological malignancy. On histological examination, 10/13 patients presented LAM in 1 to 9 lymph nodes with a lesion size of 0.5 to 12.0 mm, mainly located subcapsular or in the nodal parenchyma. Three of the 13 women showed extranodal involvement of the retroperitoneum, myometrium, and the hilum of the ovary. Immunohistochemically LAM was positive for HMB45, desmin, and smooth muscle actin.</p><p><strong>Conclusion: </strong>LAM is a rare systemic disease that mainly involves the lungs. Nevertheless, extra-pulmonary manifestations may occur. It is important to report the incidental finding of even small foci of LAM within the pathology report. Incidental LAM may represent the sentinel lesion for pulmonary LAM and/or TSC.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":"179-184"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12041133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Prostate cancer in the biopsy : Diagnostic criteria, mimickers/pitfalls, and subtypes].","authors":"Glen Kristiansen, Marit Bernhardt","doi":"10.1007/s00292-025-01432-y","DOIUrl":"https://doi.org/10.1007/s00292-025-01432-y","url":null,"abstract":"<p><p>Despite advances in imaging diagnostics, the histological confirmation of suspected carcinoma through prostate core needle biopsy remains essential for therapy planning. Diagnosis is based on established morphological criteria such as architectural disturbances, cellular atypia, and the loss of the basal cell layer. In addition to the most common acinar prostate carcinoma, various subtypes and rare histological patterns exist, which must be differentiated from benign mimickers. Immunohistochemical methods support diagnostic accuracy but should be carefully interpreted in the context of morphology. Tumor extent in core biopsy specimens should preferably be reported in millimeters. Diagnostic uncertainties can be coded as atypical small acinar proliferation (ASAP) or atypical intraductal proliferation (AIP) to facilitate appropriate clinical interpretation.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}