PATHOLOGICA最新文献

{"title":"KDM6A expression loss is frequent in low grade non-invasive urothelial carcinomas of the urinary bladder.","authors":"Florian Viehweger, Natalia Gorbokon, Seyma Büyücek, Henning Plage, Sebastian Hofbauer, Kira Furlano, Sarah Weinberger, Bernhard Ralla, Annika Fendler, Nadine Biernath, Barbara Erber, Florian Roßner, Simon Schallenberg, Sefer Elezkurtaj, Maximilian Lennartz, Elena Bady, Claudia Hube-Magg, Andreas H Marx, Henrik Samtleben, Margit Fisch, Michael Rink, Henrik Zecha, Marcin Slojewski, Krystian Kaczmarek, Thorsten Ecke, Stefan Koch, Nico Adamini, Ronald Simon, Guido Sauter, Joachim Weischenfeldt, Tobias Klatte, Thorsten Schlomm, David Horst, Martina Kluth, Sarah Minner","doi":"10.32074/1591-951X-1104","DOIUrl":"10.32074/1591-951X-1104","url":null,"abstract":"<p><strong>Objective: </strong>The gene lysine demethylase 6A (<i>KDM6A</i>) located on chromosome Xp11 often shows truncating mutations in urothelial carcinoma. Mutations resulting in protein expression loss can be detected by immunohistochemistry (IHC).</p><p><strong>Methods: </strong>A tissue microarray with >2,500 bladder tumors was analyzed by IHC. 78 cancers were sequenced for KDM6A.</p><p><strong>Results: </strong>KDM6A expression loss decreased from 36% of 345 pTaG2 low-grade to 23% of 152 pTaG2 high-grade and 18.5% of 92 pTaG3 tumors (p=0.0004) but not further in pT2-4 cancers (17.2-21.9%). KDM6A staining was unrelated to pT, pN, grade, and overall survival (p>0.1894) in 636 patients with pT2-4 cancers. KDM6A loss was more common in male (22.2%) than in female patients (15.4%; p=0.0067), and in tumors from males with Y-chromosome loss (36.1%) than without Y-loss (16.3%; p<0.0001). A KDM6A loss occurred in all 15 male and in 17 (74%) of 23 female patients with a truncating KDM6A mutation, but only 15 (75%) of 20 male and 17 (81%) of 21 female patients with KDM6A expression loss had a truncating mutation.</p><p><strong>Conclusions: </strong>KDM6A expression loss is frequent in urothelial carcinoma and mostly due to truncating mutations. KDM6A IHC may be a useful tool for the distinction of neoplastic from non-neoplastic urothelial cells in follow-up examinations of patients with KDM6A deficient cancers.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 3","pages":"296-305"},"PeriodicalIF":4.4,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585228","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":"Primary leiomyosarcoma of bone: a clinicopathologic and immunohistochemical study of 142 cases.","authors":"Elena Bellan, Alberto Righi, Marco Gambarotti, Stefania Benini, Dino Gibertoni, Marilena Cesari, Giuseppe Bianchi, Piero Picci, Angelo P Dei Tos, Marta Sbaraglia","doi":"10.32074/1591-951X-N1251","DOIUrl":"10.32074/1591-951X-N1251","url":null,"abstract":"<p><p>Leiomyosarcoma is a rare malignant mesenchymal tumor characterized by smooth muscle differentiation. It typically arises in both visceral and somatic soft tissues, while involvement of bone being exceptionally uncommon. Although primary leiomyosarcoma of bone has been a subject of ongoing debate, the advent of immunohistochemistry has reduced the misclassification of other sarcomas, such as fibrosarcoma and undifferentiated pleomorphic sarcoma, facilitating the accurate identification of true primary LMSB cases. To date, just over 200 well-documented LMSB cases have been published in English-language literature. Despite this, understanding of its clinical behaviour and factors influencing patient outcomes remains limited. In this study, we present the clinical, pathological, and immunohistochemical findings from 142 cases of primary bone leiomyosarcoma including extended follow-up data.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 3","pages":"288-295"},"PeriodicalIF":4.4,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585231","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":"Part III - Post-analytical phase.","authors":"Simonetta Buglioni, Davide Seminati, Rossella Bruno, Beatrice Casini, Valerio Gristina, Elena Guerini-Rocco, Calogero Lauricella, Caterina Marchiò, Maria Iole Natalicchio, Francesco Pepe, Gloria Pessina, Stefania Scarpino, Giovanni Tallini, Konstantinos Venetis, Umberto Malapelle, Fabio Pagni, Giancarlo Pruneri, Nicola Fusco","doi":"10.32074/1591-951X-1217","DOIUrl":"10.32074/1591-951X-1217","url":null,"abstract":"<p><p>Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S36-S62"},"PeriodicalIF":2.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082216","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":"Part II - Analytical phase.","authors":"Elena Guerini-Rocco, Konstantinos Venetis, Silvia Bessi, Simonetta Buglioni, Caterina Chiappetta, Dario de Biase, Giovanna De Maglio, Paolo Graziano, Elisabetta Macerola, Caterina Marchiò, Elisa Melucci, Mariantonia Nacchio, Federica Natoni, Andrea Vingiani, Nicola Fusco, Umberto Malapelle, Giancarlo Pruneri, Fabio Pagni","doi":"10.32074/1591-951X-1216","DOIUrl":"10.32074/1591-951X-1216","url":null,"abstract":"<p><p>Next-generation sequencing (NGS) has become a cornerstone of precision oncology, requiring standardized workflows in molecular pathology laboratories. The analytical phase, which includes all procedures from nucleic acid quantification to variant interpreta-tion, plays a central role in ensuring the accuracy and clinical utility of molecular results. This document aims at supporting pathology teams - comprising pathologists, techni-cians, and molecular biologists - during the implementation and execution of the ana-lytical phase of NGS testing. Key topics include clinical indications, platform and gene panel selection, bioinformatics pipelines, quality assurance strategies, and organizational considerations. The goal is to promote standardized, high-quality molecular diagnostics to advance precision pathology.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S18-S35"},"PeriodicalIF":2.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082183","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":"Molecular Testing in Solid Tumors: Best Practices from the Molecular Pathology and Precision Medicine Study Group of the Italian Society of Pathology (PMMP/SIAPeC).","authors":"Nicola Fusco, Giancarlo Pruneri, Fabio Pagni, Umberto Malapelle","doi":"10.32074/1591-951X-1214","DOIUrl":"10.32074/1591-951X-1214","url":null,"abstract":"<p><p>The Italian Society of Pathology's Molecular Pathology and Precision Medicine Study Group (PMMP/SIAPeC) has released a three-part set of best practice guidelines to stan-dardize and enhance molecular testing in solid tumors. Part I focuses on the pre-analytical phase, emphasizing proper tissue handling and quality control to preserve nucleic acid integrity. Part II addresses the analytical phase, outlining workflows for next-generation sequencing (NGS), from extraction to variant interpretation, with recommendations on choice of platform, gene panels, and bioinformatics. Part III covers the post-analytical phase, offering guidance on structured, clinically meaningful reporting to support thera-peutic decisions, including standards for both tissue and liquid biopsies. Together, these documents aim to harmonize molecular diagnostics, ensuring reliable, high-quality results that support precision oncology.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S1-S4"},"PeriodicalIF":2.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082137","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":"Part I - Pre-analytical phase.","authors":"Caterina Marchiò, Enrico Berrino, Stefania Scarpino, Greta Alì, Sara Erika Bellomo, Simonetta Buglioni, Andrea Capece, Eliano Cascardi, Giovanni Di Lorenzo, Elena Guerini-Rocco, Antonio Iaccarino, Nieddu Marzia, Daniela Nobilio, Pasquale Pisapia, Leonardo Tonelli, Gianluca Witel, Anna Sapino, Fabio Pagni, Nicola Fusco, Giancarlo Pruneri, Umberto Malapelle","doi":"10.32074/1591-951X-1215","DOIUrl":"https://doi.org/10.32074/1591-951X-1215","url":null,"abstract":"<p><p>Precision oncology relies on pathology to integrate morphological and genomic data for tailored treatment selection. The preanalytical phase, covering all steps from specimen collection to processing before analysis, is one of the major determinants of the quality of downstream molecular analyses, which are essential for selection personalized thera-peutic strategies. Strict adherence to protocols and specific quality control programs are essential to ensure the reliability and standardization of molecular testing. This document intends to guide the multidisciplinary team (pathologists, technicians, molecular biologists) in pathology laboratories during the preparation of samples for molecular analyses.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S5-S17"},"PeriodicalIF":2.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082250","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":"Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusion: report of two cases with different clinical presentation.","authors":"Elisabetta Merenda, Katia Paciaroni, Emilia Scalzulli, Massimo Breccia, Stefano Licci, Luisa Bizzoni, Carla Giordano, Emma Rullo","doi":"10.32074/1591-951X-975","DOIUrl":"10.32074/1591-951X-975","url":null,"abstract":"<p><p>Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (M/LN-eo-TK) such as PDGFRA, PDGFRB, FGFR1, JAK2, FLT3 rearrangement and ETV6::ABL1 fusion include rare and heterogeneous clinical-pathological entities with some similarities, not always associated with peripheral eosinophilia. Accurate diagnosis and demonstration of the specific genetic substrate have important implications since target therapy is possibly available. Herein we report two cases showing different bone marrow features and clinical presentation. Recognition of eosinophilic granuloblasts prompted genetic analysis that showed PDGFRB (case 1) and PDGFRA (case 2) gene rearrangement. Diagnosis of M/LN-eo-TK may be challenging. Pathologists may be the first professionals to suspect the disorder and should be aware of the therapeutic implication. Accurate BOM marrow evaluation with a panel of immunohistochemical reactions, and specific molecular analyses are required for proper diagnosis.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"156-161"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235518","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":"A tricky nasal polyp.","authors":"Federica Filipello, Daniela Finocchiaro, Alessandro Vinciguerra, Sara Racca, Claudio Doglioni, Federica Pedica","doi":"10.32074/1591-951X-783","DOIUrl":"10.32074/1591-951X-783","url":null,"abstract":"<p><p>Leishmaniasis is an infectious disease caused by a protozoon of the genus Leishmania. It can manifest as cutaneous, mucosal, localized lymphadenitis forms or it can result as multiorgan involvement. In this article we present the case of a 59-year-old male with a polypoid mass attached to the septum at the right nasal cavity and symptoms as nasal congestion, hyposmia and anterior rhinorrhea. Histological sections of the mass showed oval-shaped inclusions in the cytoplasm of histiocytes suspicious for Leishmania amastigotes. The diagnosis was confirmed by detection of Leishmania complex DNA with polymerase chain reaction (PCR).</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"153-155"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235508","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":"Cell-mediated mucositis of the oral cavity: narrative review on etiology, clinico-pathological aspects and malignant transformation.","authors":"Giulia Querzoli, Andrea Gabusi, Davide Bartolomeo Gissi, Sara Bassani, Roberto Rossi, Achille Tarsitano, Lucio Montebugnoli, Maria Pia Foschini","doi":"10.32074/1591-951X-1093","DOIUrl":"10.32074/1591-951X-1093","url":null,"abstract":"<p><p>Cell-mediated mucositis is the expression of a type IV hypersensitivity, in which cytotoxic CD8+ T lymphocytes attack the keratinocytes of the basal layer responsible for activating the immune response. There is sufficient evidence for an increased risk of oral cancer in patients with a diagnosis cell mediated mucositis. This review aims to examine the etiology, clinical-histological features, management and malignant transformation of a group of cell-mediated mucositis, including oral lichen planus, oral lichenoid lesions, Graft versus host disease, oral lesion of lupus erythematous.</p><p><p>The authors conducted a literature review, selecting relevant studies based on their novelty, applicability, and impact. The text highlights the varying rates of malignant transformation associated with different oral conditions. For oral lichen planus, the risk of transformation ranges from 0.44% to 2.28%, while for oral lichenoid lesions (OLLs), the rate is slightly higher, between 1.20% and 3.80%. Conditions like graft-versus-host disease are linked to a malignant transformation rate of 3.47%, and oral lesions associated with lupus erythematosus carry a similar risk at 3.3%, often involving squamous cell carcinoma of the lips. In cases of oral epithelial dysplasia, the risk increases significantly with severity, reaching 24.1% for severe dysplasia. The condition with the highest malignant potential is proliferative verrucous leukoplakia, with a transformation rate estimated at 49.5%. These findings underscore the importance of accurate diagnosis, vigilant monitoring, and the development of new therapeutic strategies. Recent advancements in treatments, such as nivolumab and imiquimod, show promise in early trials. These approaches aim to move beyond passive observation, shifting towards personalized medical interventions to reduce the risk of malignant transformation in high-risk patients.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"84-100"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235510","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":"Eosinophilic vacuolated tumor of the kidney can have distant metastasis: a histo-molecular case study.","authors":"Yang Liu, Luting Zhou, Xianwei Yang, Jing Xie, Fei Yuan, Haimin Xu, Chaofu Wang, Xiaoqun Yang","doi":"10.32074/1591-951X-1122","DOIUrl":"10.32074/1591-951X-1122","url":null,"abstract":"<p><p>Eosinophilic vacuolated tumor (EVT) is an emerging renal entity and further studies are required to characterize this neoplasm. EVT is considered generally indolent because metastasis or death from the disease has never been reported. Herein, we report the first case of EVT with mediastinal lymph node metastasis to validate its at least borderline behavior. Based on the morphological features, we additionally used a large panel of immunohistochemical antibodies and next-generation sequencing (NGS) to confirm the diagnosis of EVT and exclude other renal entities. This case report highlights the notion that EVT can exhibit mediastinal lymph node metastasis and patients with EVT need to be closely followed.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"162-164"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235512","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}