PATHOLOGICA最新文献

{"title":"Harmonization trial of <i>FGFR1-3</i> testing strategies in cholangiocarcinoma patients: an Italian multicenter experience.","authors":"Francesco Pepe, Gianluca Russo, Claudia Scimone, Lucia Palumbo, Stefania Tommasi, Rosamaria Pinto, Dario De Biase, Thais Maloberti, Adele Busico, Alessandra Santoro, Domenico Salemi, Elisa Melucci, Domenico Cozzolino, Luisa Toffolatti, Silvia Bessi, Claudia Sarracino, Ilaria Tomaiuolo, Angelo Minucci, Giuseppina Roscigno, Francesco Esposito, Pierlorenzo Pallante, Sara Lonardi, Giancarlo Pruneri, Giancarlo Troncone, Matteo Fassan, Umberto Malapelle","doi":"10.32074/1591-951X-1317","DOIUrl":"10.32074/1591-951X-1317","url":null,"abstract":"<p><strong>Aims: </strong>Molecular analysis of <i>FGFR2</i> aberrant transcripts became crucial for clinical stratification of intrahepatic cholangiocarcinoma (iCCA) patients. Several strategies, including fluorescent in situ hybridization (FISH) and next generation sequencing (NGS), are commonly used to investigate <i>FGFR</i> aberrations. Here, we evaluated the technical performance of clinically implemented diagnostic strategies in 8 referral Italian institutions on artificial reference formalin-fixed paraffin-embedded (FFPE) samples.</p><p><strong>Methods: </strong>Each participating institution was requested to apply its own diagnostic testing strategy on 8 sections obtained from artificial reference specimens built to harbor <i>FGFR3(17)-TACC3(11)</i> rearrangement and unbalanced <i>FGFR2.</i> A second-round slide set hosting <i>FGFR2(17)-BICC1(3)</i> aberrant transcript was shared to detect clinically relevant <i>FGFR2</i> fusion. Artificial reference sample was previously validated by the University of Naples Federico II before arranging the shipment. Technical procedures (e.g. extraction methods, testing platforms and assays) were recorded.</p><p><strong>Results: </strong>Overall, cell resuspension yielded higher amounts of DNA and RNA (SNU16 61.5 ng/µl, 38100.0 pg/µl; RT112 118.0/µl, 2140.0 pg/µl, respectively) in comparison with SNU16+ RT112 mixing cell block (0.7 ng/µl DNA and 412.0 pg/µl RNA). Moreover, FFPE samples showed a higher fragmentation index (DIN 1.2 and RIN not calculated) compared with cell line resuspension (DIN 2.2 and 9.5 for SNU16 and RT112; RIN 3.9 and 6.8 for SNU16 and RT112). All participating institutions identified <i>FGFR2(17)-BICC1(3)</i> and <i>FGFR3(17)-TACC3(11)</i> aberrant transcripts. Moreover, ID#2, ID#4, ID#7 institutions also detected <i>FGFR2(3)-CD44(1)</i> rearrangement on RNA, whereas institutions ID#1, ID#2, ID#3, ID#5, ID#6, ID#8 identified <i>FGFR2</i> CNVs on DNA.</p><p><strong>Conclusions: </strong>NGS represents the most suitable approach in molecular profiling of <i>FGFR</i> aberrant transcripts. Rings trial based on artificial reference samples play a pivotal role in optimizing routine diagnostic procedures filling the gap in clinical stratification of iCCA patients.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 5","pages":"496-507"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12743363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846430","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":"Gastric perineurioma detected in routine endoscopy biopsy practice: case report and review of clinico-pathological findings in the literature.","authors":"Ilaria Girolami, Stefania Neri, Federico Desideri, Rima Cepurnaite, Francesco Erdini, Esther Hanspeter","doi":"10.32074/1591-951X-1371","DOIUrl":"10.32074/1591-951X-1371","url":null,"abstract":"<p><p>Perineuriomas are soft tissue neoplasms composed almost entirely of cells resembling perineurium and their occurrence in gastrointestinal tract is quite rare, with most of reported cases occurring in the colon. No more than 12 cases of gastric perineurioma have been reported to date, and the diagnosis in a routine endoscopy biopsy service can be challenging given the broad differentials of a bland-looking spindle cell proliferation in gastric mucosa. Here we present a case of a gastric perineurioma in a 39-year-old woman detected in routine endoscopy biopsy where a high degree of suspicion of the pathologist and targeted immunohistochemical investigations for perineurial markers EMA and GLUT1 allowed the correct diagnosis. Reviewing the literature, it appears that gastric perienuriomas most commonly occur in mid-age females and are often detected in routine endoscopies, with appearance of a benign-looking mid-sized sessile polyp. Special attention is needed to discriminate with GIST to avoid inappropriate further investigations and overtreatment. Moreover, we speculate that these lesions are likely underrecognized in busy routine gastrointestinal biopsy service, as most are probably dismissed as benign mesenchymal polyps/submucosal proliferations after exclusion of GIST or are misdiagnosed as inflammatory fibroid polyp in the case of CD34 positivity. However, the case presented demonstrates that, in light of the apparently typical occurrence in mid-aged females with endoscopic impression of benign polyp of the body, general pathologists of routine biopsy services should also have a high degree of suspicion and maybe add a perineural marker to their panel.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 6","pages":"603-609"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640222","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":"Interventional pathologist and intraoperative surgical margin evaluation of radical prostatectomy specimens ex-vivo confocal microscopy <i>vs.</i> frozen section evaluation.","authors":"Alessia Cimadamore, Liang Cheng, Antonio Lopez-Beltran, Rodolfo Montironi","doi":"10.32074/1591-951X-1791","DOIUrl":"10.32074/1591-951X-1791","url":null,"abstract":"","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 6","pages":"618-619"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640224","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":"Distinction of thymic carcinoma and type B3 thymoma using ancillary biomarkers.","authors":"Anello Marcello Poma, Alessandra Celi, Vittorio Aprile, Iacopo Petrini, Stefano Stanca, Diana Bacchin, Cristina Niccoli, Melania Guida, Michelangelo Maestri, Marcello Carlo Ambrogi, Marco Lucchi, Greta Alì","doi":"10.32074/1591-951X-1652","DOIUrl":"10.32074/1591-951X-1652","url":null,"abstract":"<p><strong>Objective: </strong>Thymic carcinomas (TC) are rare and understudied tumors. Pitfalls exist with TC diagnosis, and biomarkers are needed to support the pathologist. Here, we tested a series of biomarkers to differentiate TC from type B3 thymoma.</p><p><strong>Methods: </strong>A consecutive series of 48 patients, 26 with TC and 22 with type B3 thymoma entered the study. Immunohistochemical expression of CD5, CD117, BAP1, MTAP, Ki-67 was evaluated. CDKN2A status was assessed by FISH.</p><p><strong>Results: </strong>CD5 and CD117 were expressed in TC only (n = 19 and n = 20 respectively). Five TC did not show CD5 or CD117 expression. BAP1 expression was lost in 3 TC, while MTAP staining was absent in 3 TC and 1 type B3 thymoma. <i>CDKN2A</i> deletion was observed in 4 TC and 1 type B3 thymoma. CD5 and CD117 showed a perfect specificity for TC and a good sensitivity, especially when combined (0.81). The addition of the other markers improved the sensitivity (0.85) with a slight decrease in specificity (0.95). Indeed, one type B3 thymoma harboured CDKN2A deletion with MTAP loss of expression.</p><p><strong>Conclusions: </strong>CD5 and CD117 are the best markers for TC. While the addition of other markers (i.e., BAP1 loss, MTAP loss and CDKN2A deletion) might be useful in cases negative for CD5 and CD117, rare cases of type B3 thymoma might harbor these alterations.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 6","pages":"580-587"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640248","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":"The contribution of methylation profiling in neuropathological diagnosis of central nervous system tumors in children, adolescent and young adults.","authors":"Anna Maria Buccoliero, Laura Giunti, Mirko Scagnet, Milena Guidi, Debora Vergani, Rina Agushi, Federico Mussa, Barbara Spacca, Flavio Giordano, Lorenzo Innocenti, Abramo Ponticelli, Gianluca Mattei, Francesca Ciapi, Maura Calvani, Manila Antonelli, Ludovico D'Incerti, Lorenzo Genitori, Iacopo Sardi","doi":"10.32074/1591-951X-1226","DOIUrl":"10.32074/1591-951X-1226","url":null,"abstract":"<p><p>Methylation of CpG islands plays a crucial role in the regulation of gene expression. The study of DNA methylation profiles offers deep insights into key oncogenic processes and facilitates the differentiation of tumor entities at the epigenetic level. Methylation profiling was performed on 8 CNS tumors (6 children, 1 adolescent, 1 young adult) with inconclusive diagnoses, available frozen tissue, and surgeries dating back over 5 years. Our goal was to correlate the resulting methylation classes with the clinical-radiological data and to evaluate the diagnostic and prognostic power of this analysis. The resulting molecularly defined diagnoses were: pilocytic astrocytoma (3 cases), pilocytic astrocytoma subclass <i>FGFR1</i> altered (1 case), ganglioglioma (2 cases), diffuse leptomeningeal glioneuronal tumor subtype 1 (1 case), and diffuse midline glioma <i>H3.3K27</i>-altered, subtype <i>H3K27</i> mutant or <i>EZHIP</i>-expressing (1 case). Clinico-pathological features of each tumor in our series are discussed. The clinical behavior was consistent with the molecular diagnosis in all cases but one that was lost to follow-up. In our series, the initial diagnostic failure in 3 of the 8 cases was due to the fact that the pathological entities-diffuse midline glioma, H3 K27-altered, pilocytic astrocytoma with FGFR1 alteration and diffuse leptomeningeal glioneuronal tumor -had not yet been fully characterized or widely recognized in the literature at the time of diagnosis. In the remaining cases, the lack of distinctive histopathological features hindered a definitive diagnosis. In conclusion, according to our experience, DNA methylation profile analysis represents a very attractive diagnostic tool and provides important support for the diagnosis and classification of CNS tumors.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 5","pages":"475-485"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12743366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846558","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":"Paul Langerhans (1847-1888): perceiving the unknown and describing it.","authors":"Carlo Patriarca, Guido Petracco, Giacomo Maria Pini, Stefano Chiaravalli, Guido Rindi","doi":"10.32074/1591-951X-N1064","DOIUrl":"10.32074/1591-951X-N1064","url":null,"abstract":"<p><p>Paul Langerhans Jr. described under the microscope single cells and aggregates never seen before; he had broad interests and a non-ordinary biography. He died young from tuberculosis, but continued to study until the end, driven by curiosity and disregarding his fate. In him coexisted the genius of the discoverer and the diligence of the observer of nature.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 5","pages":"523-528"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12743360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846616","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":"Immunohistochemical and molecular profiling of uveal melanoma: clinicopathological correlations from an Italian cohort.","authors":"Francesco Fortarezza, Giovanni Zarrilli, Giada Munari, Valentina Angerilli, Mariangela Balistreri, Luisa Piccin, Valentina Salizzato, Jacopo Pigozzo, Giulia Midena, Raffaele Parrozzani, Valentina Guarneri, Edoardo Midena, Marta Sbaraglia, Matteo Fassan, Angelo Paolo Dei Tos","doi":"10.32074/1591-951X-1659","DOIUrl":"10.32074/1591-951X-1659","url":null,"abstract":"<p><strong>Objective: </strong>Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, characterized by distinct histopathological and molecular features and often associated with poor prognosis due to its high metastatic potential. While histology, BAP1 status, and chromosomal changes are established prognostic markers, integration of morphological, immunophenotypic, and molecular data is evolving.</p><p><strong>Methods: </strong>We retrospectively analyzed 84 UM cases from a single institution using an integrated approach combining histological classification, immunohistochemical profiling, and targeted next-generation sequencing with a 63-gene panel. Tissue microarrays were used for immunophenotyping, and mutation data were stratified by prognostic outcomes.</p><p><strong>Results: </strong>Most tumors were localized to the choroid and predominantly exhibited spindle-cell morphology. Mutations in <i>GNAQ</i> or <i>GNA11</i> were identified in 83% of sequenced cases. Loss of <i>BAP1</i> expression correlated with epithelioid histology and denser T-cell infiltration yet lacked PD-L1 expression. Aberrant p53 staining was more frequent in spindle-cell tumors, though <i>TP53</i> mutations were rare, suggesting functional inactivation through other mechanisms. Notably, mutations typically associated with cutaneous melanomas (e.g., <i>BRAF</i>, <i>KIT</i>, <i>CDKN2A</i>) were also detected, particularly in a single iris melanoma, suggesting site-specific molecular convergence. Additional recurrent alterations were found in <i>NOTCH1</i>, <i>PTEN</i>, <i>PIK3CA</i>, and <i>KDR</i>, implicating the mTOR and VEGF signaling pathways. A high mutational burden, along with mutations in genes such as <i>H3F3A</i>, <i>IDH2</i>, <i>JAK3</i>, and <i>ESR1</i>, was more frequent in tumors with poorer prognosis, supporting their potential role in disease aggressiveness.</p><p><strong>Conclusions: </strong>This study highlights the heterogeneous molecular landscape of UM and underscores the importance of integrating histopathological and molecular data for improved prognostic stratification. The identification of potential therapeutic targets and atypical mutations typically associated with other melanoma subtypes suggests avenues for future research and tailored therapeutic strategies.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 6","pages":"588-597"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640207","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":"The clinical impact of precise assessment of predictive biomarkers in gastroesophageal cancer: focus on the PD-L1 combined positive score (CPS) and tumor area positivity (TAP) systems.","authors":"Alessandro Gambella, Valentina Angerilli, Federica Grillo, Filippo Pietrantonio, Alessandro Vanoli, Paola Parente, Paola Cassoni, Maria Cristina Macciomei, Alessandro Caputo, Francesco Giuseppe Carbone, Chiara Taffon, Carla Giordano, Luca Mastracci, Matteo Fassan","doi":"10.32074/1591-951X-1759","DOIUrl":"10.32074/1591-951X-1759","url":null,"abstract":"<p><p>Accurate assessment of PD-L1 expression is crucial for therapeutic decision-making in esophageal, esophago-gastric junction, and gastric cancers, where immune checkpoint inhibitors have become integral to first-line treatment in selected patients. This review provides an updated, practice-oriented summary on PD-L1 immunohistochemistry evaluation, with emphasis on the emerging Tumor Area Positivity (TAP) scoring system together with established Combined Positive Score (CPS) and Tumor Proportion Score. First, we examine the clinical relevance and use in clinical trials of each scoring method, and the pre-analytical and analytical variables influencing PD-L1 interpretation. Then, we address advantages and disadvantages of each scoring system, including a thorough analysis and pictorial interpretation guide of the recently introduced TAP score. Indeed, thanks to a visual-estimation-based assessment of PD-L1 expression, TAP has improved reproducibility and reduced scoring time, but large-scale validation is ongoing and certain interpretive challenges remain. Finally, we propose a standardized reporting template to enhance consistency in diagnostic practice, together with our perspective on future improvements and challenges of PD-L1 assessment.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 6","pages":"529-545"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640238","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":"When scars tell a story: cases of scar sarcoidosis preceding or following diagnosis of systemic disease.","authors":"Francesco Fortarezza, Christian Ciolfi, Jacopo Tartaglia, Anna Poputchikova, Gerardo Cazzato, Mauro Alaibac, Angelo Paolo Dei Tos","doi":"10.32074/1591-951X-N1033","DOIUrl":"10.32074/1591-951X-N1033","url":null,"abstract":"<p><p>Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of non-necrotizing granulomas in various organs, with the lungs and mediastinal lymph nodes being the most commonly affected sites. \"Scar sarcoidosis\" refers to the rare phenomenon in which sarcoid granulomas develop in pre-existing scars, such as surgical scars, tattoos, or sites of previous skin trauma. We report two cases of patients who presented with sarcoid granulomas developing in previous scar sites. The first case involved a 37-year-old man with a prior diagnosis of stage II pulmonary sarcoidosis who later developed erythematous plaques over scarred areas. A skin biopsy confirmed non-necrotizing granulomas. The second case describes a 45-year-old woman who presented with erythematous-violaceous plaques over previous traumatic scars, with subsequent tests revealing systemic sarcoidosis. Scar sarcoidosis highlights the diverse clinical presentations of sarcoidosis, emphasizing the need for clinicians to be vigilant of new or unusual manifestations. Recognizing this form of sarcoidosis can facilitate early systemic diagnosis and impact patient management. These cases underscore the importance of a multidisciplinary approach in diagnosing and managing sarcoidosis, given its dynamic and unpredictable nature.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"418-422"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534398","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":"Clinical autopsy: methodological applications and scientific perspectives in post-mortem diagnostics.","authors":"Martina Padovano, Matteo Scopetti, Federico Manetti, Donato Morena, Gianluca Piras, Vittorio Gatto, Alessandro Santurro, Vittorio Fineschi","doi":"10.32074/1591-951X-N953","DOIUrl":"10.32074/1591-951X-N953","url":null,"abstract":"<p><strong>Objective: </strong>To analyze mortality from natural causes in hospital and out-of-hospital settings using clinical autopsy, emphasizing its methodological rigor and scientific contributions.</p><p><strong>Methods: </strong>The present retrospective study included 1,340 autopsies conducted at the Umberto I General Hospital (2017-2023). Standardized protocols were applied, including complete autopsies, ancillary investigations (histopathology, imaging, microbiology, genetics), and systematic data collection.</p><p><strong>Results: </strong>Out of 912 natural deaths, cardiac pathologies were the leading terminal cause (70.3%), followed by vascular (10.4%) and respiratory disorders (7.0%). Males (71%) predominated, with peak mortality between 55-74 years. Ancillary methods were crucial in identifying causes, particularly in individuals < 30 years where macroscopic findings were absent. Genetic studies helped identify hereditary cardiac conditions, enabling preventive family screening.</p><p><strong>Conclusions: </strong>Clinical autopsy remains indispensable for determining the cause of death and improving diagnostic accuracy. A rigorous, standardized approach with ancillary methods enhances scientific understanding and public health interventions. Expanding post-mortem diagnostics and promoting centralized facilities is vital for quality mortality assessments.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"327-337"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534899","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}