Virchows Archiv最新文献

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Polarised light scanner for digital pathology. 数字病理偏振光扫描仪。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-09 DOI: 10.1007/s00428-024-03967-6
Dunia Al Sheikhyaqoob, André Oliveira, Manuel Fella, Don Laferty, Gerald Niedobitek
{"title":"Polarised light scanner for digital pathology.","authors":"Dunia Al Sheikhyaqoob, André Oliveira, Manuel Fella, Don Laferty, Gerald Niedobitek","doi":"10.1007/s00428-024-03967-6","DOIUrl":"https://doi.org/10.1007/s00428-024-03967-6","url":null,"abstract":"<p><p>Digital pathology is rapidly transforming diagnostic pathology by allowing remote work and integration of artificial intelligence solutions. Nevertheless, certain technical issues remain to be resolved. Notably, digital images captured by conventional scanners cannot be subjected to polarised light analysis [1]. We have therefore studied if images obtained using the Glissando POL Brightfield and Polarised Light Scanner are comparable to those obtained using conventional polarised light microscopy. Hematoxylin and eosin stained sections from 75 cases, including cases of amyloidosis, periprosthetic membranes, foreign body granulomas, gout, pseudogout, and breast tissues with calcium oxalate crystals were examined using both, a polarised light microscope and the Glissando POL scanner. Representative digital images were acquired for comparison. We here show that in all settings, the images obtained by conventional polarised light microscopy and using the Glissando POL scanner were comparable. We conclude that the Glissando POL scanner can be safely integrated into a digital pathology workflow.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795132","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}
引用次数: 0
High interobserver variability of PTEN immunohistochemistry defining PTEN status in low- to intermediate-risk prostate cancer: results of the first German ring trial. PTEN免疫组化在低至中危前列腺癌中定义PTEN状态的高度观察者间可变性:第一项德国环试验的结果。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-09 DOI: 10.1007/s00428-024-03999-y
Oliver Hommerding, Marit Bernhardt, Tobias Kreft, Anna Scherping, Mahmoud Abbas, Gustavo Baretton, Jan Hinrich Bräsen, Johannes Breyer, Christopher Darr, Franz Friedrich Dressler, Jörg Ellinger, Ramona Erber, Irene Esposito, Arndt Hartmann, Wolfgang Hartmann, Barbara Heitplatz, Hans Kreipe, Marcel Lafos, Johannes Linxweiler, Cristina Lopez-Cotarelo, Verena Sailer, Henning Reis, Matthias Saar, Hans-Ulrich Schildhaus, Katrin Schlack, Matthias Schmid, Maximilian Seidl, Axel Semjonow, Ulrich Sommer, Phillip Rolf Stahl, Verena Tischler, Florian Weber, Anna-Lena Wulf, Bernd Wullich, Glen Kristiansen
{"title":"High interobserver variability of PTEN immunohistochemistry defining PTEN status in low- to intermediate-risk prostate cancer: results of the first German ring trial.","authors":"Oliver Hommerding, Marit Bernhardt, Tobias Kreft, Anna Scherping, Mahmoud Abbas, Gustavo Baretton, Jan Hinrich Bräsen, Johannes Breyer, Christopher Darr, Franz Friedrich Dressler, Jörg Ellinger, Ramona Erber, Irene Esposito, Arndt Hartmann, Wolfgang Hartmann, Barbara Heitplatz, Hans Kreipe, Marcel Lafos, Johannes Linxweiler, Cristina Lopez-Cotarelo, Verena Sailer, Henning Reis, Matthias Saar, Hans-Ulrich Schildhaus, Katrin Schlack, Matthias Schmid, Maximilian Seidl, Axel Semjonow, Ulrich Sommer, Phillip Rolf Stahl, Verena Tischler, Florian Weber, Anna-Lena Wulf, Bernd Wullich, Glen Kristiansen","doi":"10.1007/s00428-024-03999-y","DOIUrl":"https://doi.org/10.1007/s00428-024-03999-y","url":null,"abstract":"<p><p>The prognostication of individual disease trajectory and selection of optimal therapy in patients with localized, low-grade prostate cancer often presents significant difficulty. The phosphatase and tensin homolog on chromosome 10 (PTEN) has emerged as a potential novel biomarker in this clinical context, based on its demonstrated prognostic significance in multiple retrospective studies. Incorporation into standard clinical practice necessitates exceptional diagnostic accuracy, and PTEN's binary readout-retention or loss-suggests its suitability as a biomarker. This multi-institutional ring trial aimed to validate the diagnostic precision of PTEN immunohistochemistry in localized, low- to intermediate-risk prostate cancer, across ten university pathology institutes in Germany. The trial incorporated 90 cases of patients diagnosed with acinar adenocarcinoma of the prostate of grade groups 1 (n = 8, 8.9%) and 2 (n = 82, 91.1%) post-radical prostatectomy. Remarkably, the interpretation of PTEN immunohistochemistry displayed substantial variation (12.5-51.2% PTEN loss rates) within an identical cohort of prostate cancer. Fluorescence in situ hybridization analysis demonstrated PTEN hemizygous deletions in 5.5% (5/90) of cases. All cases with hemizygous deletions presented a distinct loss of PTEN expression by immunohistochemistry and were unanimously identified as PTEN loss by all participants (sensitivity 100%). However, negative (loss) immunohistochemistry was relatively non-specific for an underlying genomic deletion. Improved inter-observer agreement was observed in a subsequent ring trial. Finally, we identify S473-pAKT immunohistochemistry as a useful marker in equivocal cases. In summary, this multi-institutional ring trial illustrates surprisingly heterogeneous outcomes in defining PTEN status by immunohistochemistry.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802380","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}
引用次数: 0
Malignant epithelioid tumors with EWSR1::CREB fusion involving the kidney: a report of two cases. 恶性上皮样肿瘤伴EWSR1::CREB融合累及肾脏2例报告
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-09 DOI: 10.1007/s00428-024-03989-0
Jiezhen Li, Qiang Zeng, Xin Chen, Haijian Huang
{"title":"Malignant epithelioid tumors with EWSR1::CREB fusion involving the kidney: a report of two cases.","authors":"Jiezhen Li, Qiang Zeng, Xin Chen, Haijian Huang","doi":"10.1007/s00428-024-03989-0","DOIUrl":"https://doi.org/10.1007/s00428-024-03989-0","url":null,"abstract":"<p><p>Soft tissue tumors with EWSR1/FUS fusion to genes encoding the cyclic adenosine monophosphate response element-binding (CREB) transcription factor family (ATF1, CREB1, and CREM) are rare and heterogeneous aggressive tumors, often found in the peritoneal cavity. Here, we report two cases of malignant epithelioid tumors with EWSR1::CREB fusion involving the kidney in females in their 30 s. Both tumors appeared as solitary masses, measuring 5.4 cm and 4.0 cm in diameter. Histologically, the tumors were similar, growing invasively with unclear boundaries and composed of epithelial cells with eosinophilic and clear cytoplasm arranged in sheets, nests, and trabeculae. Immunohistochemically, case 1 showed focal AE1/AE3 positivity, whereas case 2 was negative. Anaplastic lymphoma kinase was diffusely positive in case 1 and focally positive in case 2. Both cases were positive for epithelial membrane antigen, mucin-4, and synaptophysin. High-throughput sequencing identified EWSR1::CREM fusion in case 1, whereas fluorescence in situ hybridization detected EWSR1::CREB1 fusion in case 2. These cases expand the morphological and immunophenotypic characteristics of malignant epithelioid tumors with EWSR1::CREB fusion, highlighting the diagnostic challenges of immunohistochemistry and value of molecular testing for accurate diagnosis.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795129","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}
引用次数: 0
YAP1::KMT2A-rearranged sarcomas harbor a unique methylation profile and are distinct from sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma. YAP1: kmt2a重排肉瘤具有独特的甲基化谱,不同于硬化上皮样纤维肉瘤和低级别纤维黏液样肉瘤。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-06 DOI: 10.1007/s00428-024-03995-2
Laura M Warmke, Baptiste Ameline, Karen J Fritchie, Carina A Dehner, Abbas Agaimy, Nasir Ud Din, Markku M Miettinen, Josephine K Dermawan, John M Gross, Judith J Thangaiah, John S A Chrisinger, David I Suster, Raul Perret, François Le Loarer, Gregory W Charville, Darya Buehler, Maximus C F Yeung, Benjamin F Smith, Daniel Baumhoer, Jessica L Davis
{"title":"YAP1::KMT2A-rearranged sarcomas harbor a unique methylation profile and are distinct from sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma.","authors":"Laura M Warmke, Baptiste Ameline, Karen J Fritchie, Carina A Dehner, Abbas Agaimy, Nasir Ud Din, Markku M Miettinen, Josephine K Dermawan, John M Gross, Judith J Thangaiah, John S A Chrisinger, David I Suster, Raul Perret, François Le Loarer, Gregory W Charville, Darya Buehler, Maximus C F Yeung, Benjamin F Smith, Daniel Baumhoer, Jessica L Davis","doi":"10.1007/s00428-024-03995-2","DOIUrl":"https://doi.org/10.1007/s00428-024-03995-2","url":null,"abstract":"<p><p>Sclerosing epithelioid fibrosarcoma (SEF) was originally described as a peculiar variant of fibrosarcoma in 1995. Subsequent studies showed that conventional SEF was associated with both immunohistochemical expression of MUC4 and EWSR1/FUS gene rearrangements with CREB3L1 as the predominant fusion partner. Since then, a distinct group of fibrous tumors characterized by YAP1::KMT2A and KMT2A::YAP1 gene rearrangements and SEF-like morphology has been described. These YAP1::KMT2A-rearranged sarcomas were further shown to lack both immunohistochemical expression of MUC4 and canonical EWSR1/FUS gene rearrangements. To better understand whether the YAP1::KMT2A-rearranged sarcomas represent a subset of MUC4-negative SEF or a distinct entity, we studied 22 cases of YAP1::KMT2A-rearranged sarcomas, the largest series to date, and performed a literature review of all previously reported next-generation sequencing (NGS)-confirmed cases. These sarcomas often arose in young adults with a median age of 38 years and a male to female (M:F) ratio of 1.4:1. They predominantly involved somatic soft tissue; however, we report the first case of a tumor that primarily developed inside bone. Immunohistochemical studies showed that the tumors often demonstrated expression of YAP1 and EMA, while all tested cases were negative for MUC4. NGS confirmed the presence of YAP1::KMT2A gene fusions in all cases, some of which initially had false negative results with targeted FISH and solid tumor panel testing. Clinical follow-up information was available in 14 patients with a median follow-up of 25 months (range 1 to 170 months). Local recurrence occurred in three patients (21%) and metastasis developed in seven patients (50%). DNA methylation analysis further showed that YAP1::KMT2A-rearranged sarcomas formed a distinct cluster, which was clearly separate from both conventional SEF and low-grade fibromyxoid sarcoma (LGFMS). These results suggest that YAP1::KMT2A-rearranged sarcomas likely represent a unique sarcoma subtype with propensity for aggressive behavior.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786031","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}
引用次数: 0
Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms. 通过DNA甲基化分析对软组织肌上皮肿瘤的重新评估揭示了一组主要由融合驱动的表观遗传不同的肿瘤。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-05 DOI: 10.1007/s00428-024-03977-4
Faizan Malik, Selene C Koo, Nasir Ud Din, Quynh T Tran, Oscar Lopez-Nunez, Sabina Barresi, Silvia Vallese, Giuseppe Milano, Evelina Miele, Michael R Clay, Rita Alaggio, Brent A Orr
{"title":"Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.","authors":"Faizan Malik, Selene C Koo, Nasir Ud Din, Quynh T Tran, Oscar Lopez-Nunez, Sabina Barresi, Silvia Vallese, Giuseppe Milano, Evelina Miele, Michael R Clay, Rita Alaggio, Brent A Orr","doi":"10.1007/s00428-024-03977-4","DOIUrl":"https://doi.org/10.1007/s00428-024-03977-4","url":null,"abstract":"<p><p>Soft tissue myoepithelial tumors (METs) are diagnostically challenging tumors that require careful histologic and immunohistochemical characterization for accurate classification. Nearly half of METs show recurrent EWSR1 or FUS gene rearrangements with a diverse set of fusion partners. The diversity of fusion partners and lack of known driver abnormalities in many cases raises the question of whether METs represent a uniformly distinct tumor entity. To address this question, we performed careful histopathologic and molecular analysis, including DNA methylation profiling (DNA-MP) and fusion testing, on a cohort of 30 institutionally diagnosed METs from 29 patients. On histologic and immunophenotypic evaluation, 22 of 30 tumors diagnosed as MET fulfilled strict histologic and immunophenotypic criteria. Among those failing to meet criteria, most were reclassified as another tumor entity by DNA-MP. Seven tumors meeting criteria grouped with another sarcoma reference type by DNA-MP, with confirmation of the characteristic driver abnormality of that tumor in selected cases. The remaining tumors histologically \"consistent\" with METs (n = 15) formed a distinct epigenetic cluster, independent of other reference entities. Recurrent gene fusions were identified in 11 of 15 tumors in this epigenetically distinct group, including EWSR1::KLF15 (n = 4), EWSR1::PBX3 (n = 2), and EWSR1::POU5F1 (n = 1) rearrangements. Clinicopathologic correlation suggests that EWSR1::KLF15 tumors are enriched in pediatric patients with aggressive histology. Our work shows that at least a subset of METs falls within an epigenetically distinct but heterogenous group. Furthermore, DNA-MP provides a useful adjunct to other molecular testing to help distinguish METs from histologic mimics.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787175","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}
引用次数: 0
Tenosynovitis with psammomatous calcifications: Series of 18 cases and review of the literature emphasizing a common source of expert consultation and updated differential diagnosis. 腱鞘炎伴沙砾性钙化:18例病例及文献回顾,强调专家咨询和最新鉴别诊断的共同来源。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-05 DOI: 10.1007/s00428-024-03997-0
Samuel Law, Sandra Ixchel Sanchez, Katherine Fomchenko, Anders Meyer, Ezra Baraban, John M Gross
{"title":"Tenosynovitis with psammomatous calcifications: Series of 18 cases and review of the literature emphasizing a common source of expert consultation and updated differential diagnosis.","authors":"Samuel Law, Sandra Ixchel Sanchez, Katherine Fomchenko, Anders Meyer, Ezra Baraban, John M Gross","doi":"10.1007/s00428-024-03997-0","DOIUrl":"https://doi.org/10.1007/s00428-024-03997-0","url":null,"abstract":"<p><p>Tenosynovitis with psammomatous calcifications (TPC) is a rare, benign condition currently regarded as a pseudotumor possibly related to repetitive use and/or trauma with a predilection for females at acral sites. Thirty-five cases have been reported, with the largest series comprising 23 patients; yet, TPC remains poorly recognized by pathologists and clinicians alike. We report a series of eighteen additional cases along with radiology and clinical follow-up. Our cohort demonstrated a strong female sex predilection (14 females and 4 males), with ages ranging from 12 to 71 years (mean 50 years) and involved the hand/finger (10), toes/foot (5), wrist (2), or elbow (1). More than half (56%) were diagnosed in the expert consultation setting in which contributor suggested diagnoses (8) included: gout/pseudogout (n = 2), chondrosarcoma (N = 1), soft tissue chondroma (N = 1), calcified chondroid mesenchymal neoplasm (N = 1), calcifying aponeurotic fibroma (N = 1), giant cell tumor (N = 1), or \"rule out malignancy\" (n = 1). The majority of patients presented with painful masses and radiology showed indolent/benign features chiefly within the tendino-ligamentous tissues some with non-specific faint internal matrix/popcorn calcification pattern. None had known metabolic abnormalities and three (of 11) had a history of prior trauma/repetitive activity. The masses were generally small (mean 1.3 cm; range 0.4-2.4 cm) and composed of histiocytoid cells with variable amounts of grungy psammomatous round calcific debris located within tenosynovium. Occasional giant cells and admixed bland (myo)fibroblastic spindle cells were seen. Clinical follow-up (12 patients; mean 30 mos; range 2-61 mos) showed no local recurrences. Herein, we report a large series of well-characterized TPC, review the literature, and offer an updated differential diagnosis of this distinctive, rare, and under-recognized entity cured by simple excision. Increased awareness of TPC should allow confident distinction from morphologic mimics and avoidance of overtreatment.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785779","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}
引用次数: 0
Breaking barriers in pathology: bridging gaps in multidisciplinary collaboration. 打破病理学障碍:弥合多学科合作的差距。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-05 DOI: 10.1007/s00428-024-03991-6
Rui Almeida, Ceren Boyaci, Marcin Braun, Federica Pezzuto, Philipp Zens, João Lobo, Dina Tiniakos
{"title":"Breaking barriers in pathology: bridging gaps in multidisciplinary collaboration.","authors":"Rui Almeida, Ceren Boyaci, Marcin Braun, Federica Pezzuto, Philipp Zens, João Lobo, Dina Tiniakos","doi":"10.1007/s00428-024-03991-6","DOIUrl":"https://doi.org/10.1007/s00428-024-03991-6","url":null,"abstract":"","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781226","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}
引用次数: 0
Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases. KAT6B/A::KANSL1融合子宫肉瘤9例分子及临床病理研究
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-04 DOI: 10.1007/s00428-024-03994-3
Pavel Dundr, Jiří Dvořák, Michaela Krausová, Jan Hojný, Nikola Hájková, Ivana Stružinská, Kristýna Němejcová, Ondřej Ondič, Michael Michal, Květoslava Michalová, Alberto Berjón, Marcin Jedryka, Mariusz Książek, Tymoteusz Poprawski, Janusz Ryś, Nataliya Volodko, Ignacio Zapardiel, Tomáš Zima, David Cibula, Renata Poncová, Radoslav Matěj, Michaela Kendall Bártů
{"title":"Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases.","authors":"Pavel Dundr, Jiří Dvořák, Michaela Krausová, Jan Hojný, Nikola Hájková, Ivana Stružinská, Kristýna Němejcová, Ondřej Ondič, Michael Michal, Květoslava Michalová, Alberto Berjón, Marcin Jedryka, Mariusz Książek, Tymoteusz Poprawski, Janusz Ryś, Nataliya Volodko, Ignacio Zapardiel, Tomáš Zima, David Cibula, Renata Poncová, Radoslav Matěj, Michaela Kendall Bártů","doi":"10.1007/s00428-024-03994-3","DOIUrl":"https://doi.org/10.1007/s00428-024-03994-3","url":null,"abstract":"<p><p>Uterine sarcomas with KAT6B/A::KANSL1 fusion represent a new entity characterized by bland morphology, commonly with hybrid features of low-grade endometrial stromal sarcoma (LG-ESS) and tumors with smooth muscle differentiation. In our study, we performed a detailed morphological, immunohistochemical, and molecular analysis of 9 cases of these tumors. Six of those had been originally diagnosed as LG-ESS, one as leiomyoma, one as leiomyosarcoma, and the remaining case as sarcoma with the KAT6B/A::KANSL1 fusion. Seven cases showed overlapping features between endometrial stromal and smooth muscle tumors, one case resembled cellular leiomyoma, and one case resembled high-grade endometrial stromal sarcoma. Immunohistochemically, the tumors showed a common expression of smooth muscle markers and endometrial stromal markers. Molecular findings showed the KAT6B/A::KANSL1 fusion in all cases (by NGS and FISH). In addition, mutations affecting genes such as TP53, PDGFRB, NF1, RB1, PTEN, ATM, RB1, FANCD2, and TSC1 were present in all 5 cases with aggressive behavior. One patient with no evidence of disease showed no additional mutations, while another harbored a mutation of a single gene (ERCC3). Of the 8 patients with available follow-up, two died of disease, 3 are currently alive with disease, and 3 have no evidence of disease. The correct recognition of tumors with the KAT6B/A::KANSL1 fusion is essential because despite the bland morphological features of most cases, these tumors have a propensity for aggressive behavior.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772643","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}
引用次数: 0
High expression of RHOF is an effective diagnostic marker and a potential prognostic indicator for primary mediastinal large B-cell lymphoma. RHOF高表达是原发性纵隔大b细胞淋巴瘤的有效诊断标志和潜在预后指标。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-04 DOI: 10.1007/s00428-024-03993-4
Xinyi Zhu, Lin Nong, Xuemin Xue, Xiaoli Feng
{"title":"High expression of RHOF is an effective diagnostic marker and a potential prognostic indicator for primary mediastinal large B-cell lymphoma.","authors":"Xinyi Zhu, Lin Nong, Xuemin Xue, Xiaoli Feng","doi":"10.1007/s00428-024-03993-4","DOIUrl":"https://doi.org/10.1007/s00428-024-03993-4","url":null,"abstract":"<p><p>Due to the overlap of histological and molecular features of primary mediastinal large B-cell lymphoma (PMBL) with other lymphomas and its low incidence, the diagnosis and prognostic assessment of PMBL pose certain challenges. This study included 51 PMBL and 375 diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS) from the GEO database and 65 PMBL and 117 DLBCL-NOS from a single center. At the transcriptional and protein levels, RHOF expression in PMBL was significantly higher than in DLBCL-NOS (P < 0.001). ROC curve analysis suggested that high RHOF expression had a high discriminative diagnostic ability for PMBL and DLBCL-NOS (transcriptional level, AUC = 0.913-0.940; protein level, AUC = 0.878). Comparing RHOF with commonly used PMBL diagnostic markers CD23, CD30, and PD-L1, it was found that high RHOF expression is a more useful diagnostic marker for PMBL (AUC (RHOF) = 0.878 > AUC (CD23) = 0.818 > AUC (CD30) = 0.756 > AUC (PD-L1) = 0.590). The diagnostic model based on CD23, CD30, and RHOF exhibits higher sensitivity for the diagnosis of PMBL than any of the individual markers mentioned above. Concerning prognosis, high RHOF transcriptional expression was significantly associated with poorer overall survival (OS) in PMBL (P = 0.00037), while high RHOF protein expression was significantly associated with poorer OS and progression-free survival (PFS) in PMBL (P = 0.034; P = 0.034). This study indicates that high RHOF expression in PMBL is closely associated with the diagnosis, prognosis, and clinical pathological features of the disease. High RHOF expression demonstrates a superior diagnostic ability in distinguishing PMBL from DLBCL-NOS compared to existing markers. Furthermore, research on RHOF expression in PMBL holds promise for providing new targets and insights for prognosis assessment and treatment of PMBL.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772590","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}
引用次数: 0
Using artificial intelligence to prioritize pathology samples: report of a test drive. 使用人工智能对病理样本进行优先排序:试驾报告。
IF 3.4 3区 医学
Virchows Archiv Pub Date : 2024-12-03 DOI: 10.1007/s00428-024-03988-1
Iván Rienda, João Vale, João Pinto, António Polónia, Catarina Eloy
{"title":"Using artificial intelligence to prioritize pathology samples: report of a test drive.","authors":"Iván Rienda, João Vale, João Pinto, António Polónia, Catarina Eloy","doi":"10.1007/s00428-024-03988-1","DOIUrl":"https://doi.org/10.1007/s00428-024-03988-1","url":null,"abstract":"<p><p>The digital transformation of pathology, through automation and computational tools, addresses current challenges in the field. This study evaluates Paige Pan Cancer, a novel artificial intelligence tool based on the Virchow foundation model, designed to flag invasive cancer in haematoxylin and eosin-stained slides from 16 primary tissue types. Using 62 cases from the Ipatimup Pathology Laboratory, we found the tool had a sensitivity of 93.3% and specificity of 87.5% in biopsies, and 94.7% sensitivity and 75.0% specificity in resections. Overall accuracy was 90.3%. Despite some misclassifications, Paige Pan Cancer demonstrates high sensitivity as a multi-organ screening tool in clinical practice.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772557","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}
引用次数: 0
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