Anna Vetter, Annette Zimpfer, Björn Schneider, Andreas Erbersdobler, Tobias Brockmann, Thomas Fuchsluger, Claudia Brockmann
{"title":"[Circumscribed choroidal hemangioma in Sturge-Weber syndrome].","authors":"Anna Vetter, Annette Zimpfer, Björn Schneider, Andreas Erbersdobler, Tobias Brockmann, Thomas Fuchsluger, Claudia Brockmann","doi":"10.1007/s00292-024-01373-y","DOIUrl":"https://doi.org/10.1007/s00292-024-01373-y","url":null,"abstract":"<p><p>We report on a 19-year-old patient with Sturge-Weber syndrome (SWS), accompanied by a Naevus flammeus, secondary glaucoma, and glaucomatous optic atrophy of the right eye. The painful and blind eye was enucleated. Histopathological analysis revealed a circumscribed choroidal hemangioma around the optic nerve and a smaller extrascleral hemangioma. Molecular genetic testing excluded GNA11, GNAQ, or GNAS mutations. Our work illuminates the clinical, histological, and molecular genetic aspects of this rare case, contributing to the differential diagnosis of ocular conditions in patients with SWS.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549413","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":"[A lump in the male breast-case report of an unusual tumor manifestation].","authors":"Torsten Hansen, E Z Kovacs, J Kriegsmann, S M Jud","doi":"10.1007/s00292-024-01369-8","DOIUrl":"https://doi.org/10.1007/s00292-024-01369-8","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482561","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}
Angelina Vlaški, Vanessa Neukunft, Andrea Maria Gassel, Frederick Klauschen, Doris Mayr
{"title":"[Unusual proliferation of the fallopian tube].","authors":"Angelina Vlaški, Vanessa Neukunft, Andrea Maria Gassel, Frederick Klauschen, Doris Mayr","doi":"10.1007/s00292-024-01370-1","DOIUrl":"https://doi.org/10.1007/s00292-024-01370-1","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402287","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":"Subtyping of pancreatic neuroendocrine tumors by transcription factors, hormones, histology, and patient outcome.","authors":"Elisa Moser, Ayako Ura, Günter Klöppel, Atsuko Kasajima","doi":"10.1007/s00292-024-01367-w","DOIUrl":"https://doi.org/10.1007/s00292-024-01367-w","url":null,"abstract":"<p><strong>Background: </strong>Pancreatic neuroendocrine tumors (PanNETs) show pronounced heterogeneity in terms of hormone and transcription factor (TF) expression. TFs such as ARX and PDX1 are related to alpha- and beta-cell-type features, respectively, and partly associate with patient outcome. However, detailed studies correlating hormone expression, histology, and clinical data are lacking.</p><p><strong>Objective: </strong>The aim of this study was to identify subtypes of PanNETs that associate with histological, hormonal, and prognostic findings.</p><p><strong>Methods: </strong>A total of 185 resected PanNETs were divided into five subtypes (types A1, A2, B, C, and D) by cluster analysis based on expression of four TFs (ARX, PDX1, ISL1, and CDX2) and correlated to the expression of hormones and DAXX/ATRX as well as ALT activation status, histology, and progression-free survival.</p><p><strong>Results: </strong>Subgroup A1 (ISL1+/ARX+/PDX-/CDX2-) was most frequent (46%), followed by type B (18%; ISL1+/ARX-/PDX+/CDX2-), A2 (15%; ISL1+/ARX+/PDX+/CDX2-), C (15%; ISL1-/ARX-/PDX-/CDX2-), and D (5%; ISL1-/ARX-/PDX+/CDX2+). Subgroups A1 and A2 showed a strong association with a trabecular growth pattern and glucagon and pancreatic polypeptide (PP) expression (p < 0.001), while A2 was in addition associated with gastrin expression. Subgroup B was associated with insulin production (p < 0.001) and included all 17 insulinomas. Subgroup C was associated with solid morphology and expression of serotonin, calcitonin, and adrenocorticotropic hormone (ACTH). Subgroup D showed solid morphology, expression of ACTH, somatostatin, or serotonin and had the shortest disease-free survival (p < 0.01). ALT positivity was associated with poorer outcome in types A1 and A2 but not in other types.</p><p><strong>Conclusion: </strong>PanNETs can be categorized into five subgroups based on different TF signatures, which associate strongly with histology, hormone production, functionality, and patient outcome.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395801","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":"Diagnostic issues in neuroendocrine neoplasms of the lung.","authors":"Atsuko Kasajima, Günter Klöppel","doi":"10.1007/s00292-024-01360-3","DOIUrl":"https://doi.org/10.1007/s00292-024-01360-3","url":null,"abstract":"<p><p>Bronchopulmonary neuroendocrine neoplasms (BP-NENs) account for approximately 30% of all NENs. Although BP-NENs and NENs of the gastroenteropancreatic organs (GEP-NENs) share morphological and molecular features, they differ in terms of their terminology and classification. Bronchopulmonary neuroendocrine tumors (BP-NETs) have classically been termed as carcinoid and grouped into typical (TC) and atypical carcinoid (AC) based on the presence or absence of necrosis and mitotic count. In the most recent World Health Organization (WHO) classification for NENs of endocrine organs (WHO 2022), BP-NETs-NET G1 and G2-are introduced as synonyms of TC and AC, respectively. However, the Ki-67 index, which defines the grade of NETs in digestive organs, is only discussed in the descriptive text and not included into the criteria for classification of BP-NENs. In addition, well-differentiated NENs with high mitotic counts which correspond to NET G3 in the GEP organ system are not defined. This review discusses the role of Ki-67 for a proper classification of BP-NETs/carcinoids.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362516","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":"[Report of the German Society of Pathology Working Group on Pediatric and Fetal Pathology].","authors":"Elise Gradhand, Thomas Hager","doi":"10.1007/s00292-024-01358-x","DOIUrl":"https://doi.org/10.1007/s00292-024-01358-x","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333930","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":"[Histopathological diagnostics for assessment questions of tendo-, ligamento-, and meniscus pathologies].","authors":"Veit Krenn, Lara Blümke, Ralf Dieckmann","doi":"10.1007/s00292-024-01354-1","DOIUrl":"https://doi.org/10.1007/s00292-024-01354-1","url":null,"abstract":"<p><p>This review article presents the possibilities and limitations of histopathological diagnostics on the issues of joint diseases, including in the context of the medical insurance inquiries, which consider the important articular, non-osseous compartments, especially of the tendons, ligaments, and meniscus. Essential for expert assessments is the causal clarification of whether the continuity disruption has been induced exogenously by trauma or endogenously based on tissue that is functionally impaired and thus degeneratively altered. The degree of degeneration/texture disorder is determined by means of the degeneration-score, which is set in a semiquantitative, three-stage grading. Grades 1 and 2 are summed up as low-grade degeneration and compared to grade 3, high-grade degeneration. Age determination of continuity disruption is based on the assessment of the morphology of discontinuity and on the assessment of hemosiderin deposits. The tasks of histopathological diagnostics thus consist of the detection and grading of textural disorder (degeneration), the determination of the histopathologic age of existing continuity disruptions, and particularly the diagnosis of clinically/radiologically undiagnosed diseases, which may be relevant for pathogenesis. In the case of contradictory diagnoses from different diagnostic disciplines and in the case of imprecise and potentially even contradictory patient information, purely legal, judicial decisions may be necessary. In this case the legally binding assessment within the framework of legal evidence evaluation then arises.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309306","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":"[Report of the German Society of Pathology Working Group on Bone, Joint, and Soft Tissue Pathology].","authors":"Thomas F E Barth, Bruno Märkl","doi":"10.1007/s00292-024-01357-y","DOIUrl":"https://doi.org/10.1007/s00292-024-01357-y","url":null,"abstract":"","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309308","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}