PATHOLOGICA最新文献

{"title":"Cholesterol granuloma. Another brick in the wall of mediastinal lesions.","authors":"Michela Campora, Giampiero Negri, Virgilio Longari, Maurilio Ponzoni","doi":"10.32074/1591-951X-1054ER","DOIUrl":"10.32074/1591-951X-1054ER","url":null,"abstract":"","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"173-177"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235511","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":"<i>KRAS/NRAS</i> variants and copy number alterations prognostically stratify patients with sinonasal melanoma.","authors":"Laura Libera, Nora Sahnane, Mario Turri-Zanoni, Fabiana Pettenon, Deborah Marchiori, Paolo Battaglia, Alberto Daniele Arosio, Daniela Furlan, Maurizio Bignami, Paolo Castelnuovo, Fausto Sessa, Carla Facco, Michele Cerati, Stefano La Rosa","doi":"10.32074/1591-951X-1088","DOIUrl":"10.32074/1591-951X-1088","url":null,"abstract":"<p><p>Sino-nasal mucosal melanoma (SN-MM) is an aggressive and rare form of melanoma arising from mucosal melanocytes with pathogenesis unrelated to sun exposure. Conversely to cutaneous melanoma (CM), the molecular bases underling SN-MM development and progression are unclear, and no molecular predictive markers have been identified yet. To better define the molecular landscape of SN-MM, a retrospective series of 37 SN-MMs from 31 patients was analysed for both somatic mutations and cytogenetic alterations. The somatic mutation analysis identified the presence of a driver gene pathogenic variant in 54% of cases. In detail, mutually exclusive <i>NRAS</i> mutations were found in 42% of cases, <i>KRAS</i> mutations in 6%, and <i>KIT</i> mutations in 6% of cases. Remarkably, no <i>BRAF</i> mutations were detected. Patients with <i>NRAS</i>-mutated/<i>KRAS</i>-wild type (wt) melanomas showed better outcome than patients with <i>NRAS</i>-wt/<i>KRAS</i>-mutated melanomas, which were associated with multiple recurrences at local or regional sites. On the other hand, focusing on genomic alterations, copy number variants (loss of 1p36, loss of 3p/3q) were identified in 19% of SN-MMs, which showed poor overall survival and short disease-free survival with early metastatic dissemination. This work describes a new integrated characterization of both single nucleotide variants and, for the first time, genomic alteration in SN-MM, providing a new insight into molecular bases of these neoplasms and prompting further efforts for personalized clinical protocols according to tumour aggressiveness.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"121-130"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235506","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":"Biopsy in chronic liver disease: proposal for a shared path between clinicians and pathologists.","authors":"Andrea Baiocchini, Maria Conti, Daniela Fanni, Francesca Romana Ponziani, Giuliano Alagna, Clara Balsano, Simone Carotti, Antonio Cossu, Guido Delle Monache, Shirin Demma, Maria Cristina Giustiniani, Vito Gomes, Cristina Manieli, Alessandra Moretti, Teresa Musarra, Valeria Pace Palitti, Giuseppe Perrone, Chiara Taffon, Francesca Terracciani, Umberto Vespasiani-Gentilucci, Teresa Zolfino, Giulia d'Amati","doi":"10.32074/1591-951X-1063","DOIUrl":"10.32074/1591-951X-1063","url":null,"abstract":"<p><strong>Introduction: </strong>Liver biopsy is fundamental for characterizing chronic liver disease. Effective communication between specialists during the diagnostic process is crucial. This project aims to outline a diagnostic path shared by clinicians and pathologists, and to propose practical solutions at different stages of the diagnostic work-up, from clinical suspicion to the histology report in patients with chronic liver diseases.</p><p><strong>Methods: </strong>A panel of experts, within the methodological framework of lean management, joined two rounds of discussion sharing their professional experiences. They reached an agreement on the essential phases and actions of the diagnostic process, and built a shared diagnostic workflow.</p><p><strong>Results: </strong>The panel agreed on the importance of a standardized form to be filled with all relevant clinical and laboratory data to ensure the flow of information between the clinician and the pathologist. Further decisions were reached on the following practical issues: the advantage of performing liver biopsies in dedicated centers, the need for homogeneous procedures, and the minimum quality standards in all phases, including reporting. Finally, the panel agreed on the usefulness of digital pathology to exchange observations and opinions and to create a territorial network to discuss challenging cases.</p><p><strong>Conclusion: </strong>Sharing a diagnostic path between the pathologist and the clinician can be a powerful tool to improve both the timing and accuracy of the histology report.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"136-144"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235509","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 to think of Sarcina sp. in histopathologic examination of gastrointestinal tract: insights from a one-year-old with esophagitis and gastric outlet obstruction.","authors":"Farzaneh Afshari, Maryam Khalesi, Nema Mohammadian Roshan, Amir Hossein Jafarian","doi":"10.32074/1591-951X-1114","DOIUrl":"10.32074/1591-951X-1114","url":null,"abstract":"","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"171-172"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235520","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":"Immunotherapy in recurrent/metastatic head and neck squamous cell carcinoma: PD-L1 and beyond.","authors":"Andrea Ascione, Andrea Botticelli, Martina Leopizzi, Edoardo Cerbelli, Alessio Cirillo, Diana Bellavia, Carlo Della Rocca, Giulia d'Amati, Bruna Cerbelli","doi":"10.32074/1591-951X-1092","DOIUrl":"10.32074/1591-951X-1092","url":null,"abstract":"<p><p>Head and neck squamous cell carcinoma (HNSCC) is a prominent global health concern because of its high incidence, aggressive clinical behavior, and scarce therapeutic options. The management of these neoplasms in the recurrent/metastatic setting has been revolutionized following the results of key clinical trials, leading to the advent of immunotherapeutic agents targeting the PD-1/PD-L1 axis. Despite the exciting results obtained with the new drugs, immunotherapy is helpful only in a sizable minority of patients, and there is a pressing need to identify reliable predictive biomarkers for patient selection. The immunohistochemical assessment of PD-L1 expression was initially identified as a powerful and easily accessible predictive tool, and gained its place as the current standard for patient selection, but it has clear limitations. The imperfect predictive power of PD-L1 has resulted in a strong effort to discover additional clinical, pathological and molecular biomarkers such as tumor HPV status, mutational burden, microsatellite instability, and much more. In addition, the tumor microenvironment has been extensively studied searching for promising new biomarkers as potential avenues for refining patient selection and improvement of treatment outcomes. As we gain deeper understanding of the complex interplay between tumor biology, immune system, and tumor microenvironment, we are rapidly realizing that the perfect biomarker, the magic bullet, probably doesn't exist. On the other hand, with the introduction of new drugs on the horizon, integration of multiple variables in the context of combined predictive scores is shaping up to be our best weapon in this strife to treat each patient with the best possible drug.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"73-83"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235516","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":"Malpractice in head and neck cancer: a comprehensive medico-legal review.","authors":"Emanuele Capasso, Claudia Casella, Mariagrazia Marisei, Marco Macculi, Ilenia Bianchi, Pierpaolo Di Lorenzo","doi":"10.32074/1591-951X-1001","DOIUrl":"10.32074/1591-951X-1001","url":null,"abstract":"<p><p>Head and neck (H&N) malignancies include a broad spectrum of clinical presentations and outcomes. Sources of risks, errors and mistakes are intrinsic to every therapeutical-diagnostic step leading to potential burden of malpractice allegations and threaten delivery of healthcare. The purpose of this review is to report key factors of malpractice litigation H&N neoplasms, analyzing its ethical-deontological and medico-legal aspects with a focus on Italian law. PubMed and Scopus databases were accessed to assess existing cases of oncological H&N malpractice. Twelve articles were identified according to search criteria in the selected period (2000-2024). Inclusion criteria lead to 6 articles pertaining to analysis of allegations of malpractice in H&N tumors. Diagnostic delay and informed consent issues are the most represented allegations. Poor access and lack of standardization in legal databases is commonly seen as a factor that holds back a thorough litigation analysis. This review adds evidence about common features of medical malpractice allegations through a medico-legal perspective that may help in adopting preventive strategies to mitigate risks and enhance patient safety. Combining data deriving from different studies, the paper contributes to understand the evolution of the trajectory of malpractice in this field.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"67-72"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235517","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":"Evaluation of papillary thryoid carcinoma and its variants: multifocality in thyroid lobectomy and completion thyroidectomy - a single tertiary center retrospective study.","authors":"Carmine Bruno, Pietro Tralongo, Federica Vegni, Angela Feraco, Qianqian Zhang, Belen Padial-Urtueta, Angela Carlino, Alfredo Pontecorvi, Guido Fadda, Marco Raffaelli, Luigi Maria Larocca, Liron Pantanowitz, Esther Diana Rossi","doi":"10.32074/1591-951X-1091","DOIUrl":"10.32074/1591-951X-1091","url":null,"abstract":"<p><strong>Aims: </strong>The American Thyroid Association (ATA) updated guidelines for the treatment of thyroid cancer, leading to a less aggressive approach depending on clinical-pathological features. As a result, the possibility to perform lobectomy versus total thyroidectomy has significantly increased. The majority of thyroid cancers are indolent with an excellent prognosis, while only 15% of patients with well-differentiated carcinoma, including papillary thyroid carcinoma (PTC), have locally advanced thyroid cancer (LATC) at diagnosis. We reviewed our practice in treating thyroid carcinoma over the last decade.</p><p><strong>Methods: </strong>From January 2010 to December 2020, 1057 patients with uninodular benign and malignant thyroid lesions were reviewed.</p><p><strong>Results: </strong>Among these cases, 77% were women with a median age of 49.3 years. The series involved 307 malignant diagnoses (29.05%) including 196 (61.6%) classic PTC and 38 (12%) aggressive variants of PTC, mostly tall cell variant (30 cases, 9.4%). Among malignant cases, multifocality was microscopically documented in 84 cases (26.4%). Using the ATA distribution of risk, there were 239 cases in the low risk and 68 in the intermediate risk categories. Second surgery was assessed in a total of 150 cases, showing 42 cases with additional thyroid cancer foci in the other lobe (26 single vs 16 multiple foci). Ten cases had metastatic perithyroidal lymph nodes.</p><p><strong>Conclusion: </strong>Our data could be the basis for performing a longitudinal study in order to establish which risk factors can predict bilateral involvement and to suggest a tailored surgical approach.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"111-120"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235513","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 20th century case of noma infection following typhoid fever from the Morgagni Museum (Padua, Italy).","authors":"Irene Kollhof, Giovanni Magno","doi":"10.32074/1591-951X-1092","DOIUrl":"10.32074/1591-951X-1092","url":null,"abstract":"<p><p>Noma is a potentially fatal, gangrenous disease that leads to tissue destruction in the face. It has been proven to develop mostly in children living in extreme poverty.</p><p><p>There is a lack of data regarding microbiological analysis of the ulcers, making the knowledge of the bacteria involved and its etiology still unclear. Within this framework, pathological specimens from museological collections could offer relevant improvements for the comprehension of etiology of noma. The Morgagni Museum of Human Anatomy in Padua hosts a unique case of noma dating back to 1902, and two related specimens, a mesenteric lymphatic ganglion and a spleen.</p><p><p>The bacteriological analysis of the Museum's case showed the presence of Typhus bacilli in the patient's cheek and led to hypothesize the correlation between typhoid infection and noma.</p><p><p>The specimens coming from historical collections may lead to better knowledge about etiology of noma, and potentially prevent its invalidating sequelae.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2","pages":"165-170"},"PeriodicalIF":4.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235507","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":"High-grade corded and hyalinized endometrioid carcinoma of \"no specific molecular profile\": report of two cases.","authors":"Antonio Travaglino, Damiano Arciuolo, Angela Santoro, Susanna Ronchi, Nicoletta D'Alessandris, Giulia Scaglione, Belen Padial Urtueta, Francesca Addante, Nadine Narducci, Michele Valente, Antonio Raffone, Jvan Casarin, Carla Facco, Stefano La Rosa, Gian Franco Zannoni","doi":"10.32074/1591-951X-1096","DOIUrl":"https://doi.org/10.32074/1591-951X-1096","url":null,"abstract":"<p><p>High-grade corded and hyalinized endometrioid carcinoma (CHEC) is an uncommon endometrial carcinoma variant which may mimic carcinosarcoma or dedifferentiated carcinoma and has shown association with mismatch repair deficiency (MMRd) and p53 abnormalities. Herein, we expand the spectrum of high-grade CHEC by presenting two cases showing a \"no specific molecular profile\" (NSMP). Case #1 was a 6-cm endometrial mass in a 25-year-old woman, infiltrating the deep myometrium and cervical stroma, with diffuse lymphovascular space invasion. Case #2 was an advanced, unresectable endometrial carcinoma involving the lower third of the vagina in an 81-year-old woman. On the endometrial biopsy specimen, both cases showed a markedly atypical and mitotically active corded component merging with a FIGO G3 endometrioid component and accompanied by squamous/morular differentiation. Both tumors showed nuclear β-catenin accumulation, retained MMR protein expression, wild-type p53 pattern, and no <i>POLE</i> mutations.</p><p><p>The corded component was absent in the hysterectomy specimen of case #1 and in the vaginal biopsy specimen of case #2. The present cases confirm the clinical and molecular heterogeneity of high-grade CHEC, including a wide age range at presentation, variable prognosis, and variable molecular background. Nonetheless, these cases retain unique features that support their distinction from carcinosarcoma and dedifferentiated carcinoma. We suggest to consider them as a variant of FIGO G3 endometrioid carcinoma. Further studies are necessary in this field.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 1","pages":"28-32"},"PeriodicalIF":4.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033955","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":"Morpho-molecular approach (NGS <i>plus</i> digital PCR) in diagnosis of malignant biliary strictures.","authors":"Francesco Vasuri, Elisa Albertini, Lucia Miranda, Thais Maloberti, Stefano Chillotti, Sara Coluccelli, Giovanni Tallini, Antonia D'Errico, Dario de Biase","doi":"10.32074/1591-951X-1117","DOIUrl":"https://doi.org/10.32074/1591-951X-1117","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the diagnostic accuracy and feasibility of <i>digital</i>-PCR (dPCR) combined with next-generation sequencing (NGS) in the ERCP-guided histological diagnosis of biliary strictures to overcome the issue represented by the scarcity of sampled material.</p><p><strong>Methods: </strong>Twenty-two prospective patients were included, and submitted to ERPC-guided biopsy or biliary resection. By histopathological analysis plus fluorescence in situ hybridization (FISH) for chromosomes 3, 7, and 17 aneuploidies, 8 cases (36.4%) were malignant, and 14 cases (63.6%) were negative. NGS was performed on paraffin-embedded tissue by a laboratory-developed panel allowing the analysis of hot-spot regions in 28 genes. Digital PCR (dPCR) was performed by QuantStudio™ AbsoluteQ™ solid dPCR and the copy-number variation (CNV) of the chromosomes 3, 7, and 17 analysed.</p><p><strong>Results: </strong>At dPCR, 1 case showed aneuploidy of chromosome 3, and 2 cases of both chromosomes 3 and 7. These 3 cases all belonged to the positive group (<i>p</i> = 0.014). At NGS, 6 cases showed at least one mutated gene, all in the positive group (<i>p <</i> 0.001). The 3 cases showing aneuploidy at dPCR also showed mutations at NGS. Basing on these observations, we can propose a diagnostic algorithm: dPCR can be applied first, allowing a diagnosis of malignancy in one working day if aneuploidies are observed. In the case of negative dPCR, a \"second-line\" NGS is performed on the same extracted material.</p><p><strong>Conclusions: </strong>The implementation of dPCR allowed the identification of nearly 40% of positive cases in just one working day. In cases of negative dPCR, the NGS procedure can start on the same extracted nucleic acid used for dPCR, requiring more time, but reaching a 75% sensitivity. More studies are required to identify other more sensitive and specific dPCR targets, but even if our algorithm does not increase diagnostic accuracy, the possibility of avoiding FISH and reaching a diagnosis in a more time- and money-saving fashion might be an important step.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 1","pages":"10-17"},"PeriodicalIF":4.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057424","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}