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A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response. 一种新的种系NF1剪接变体驱动一个稳定和持久的nivolumab应答的患者的肛门直肠粘膜黑色素瘤的发作。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1157
Enrico Berrino, Sara Erika Bellomo, Luca Mastorino, Valeria Morbidoni, Nicola Crosetto, Anna Sapino, Ivana Sarotto, Anita Chesta, Avallone Gianluca, Pietro Quaglino, Daniela Zampieri, Rebecca Senetta, Eva Trevisson, Caterina Marchiò, Simone Ribero
{"title":"A novel germline <i>NF1</i> splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response.","authors":"Enrico Berrino, Sara Erika Bellomo, Luca Mastorino, Valeria Morbidoni, Nicola Crosetto, Anna Sapino, Ivana Sarotto, Anita Chesta, Avallone Gianluca, Pietro Quaglino, Daniela Zampieri, Rebecca Senetta, Eva Trevisson, Caterina Marchiò, Simone Ribero","doi":"10.32074/1591-951X-N1157","DOIUrl":"10.32074/1591-951X-N1157","url":null,"abstract":"<p><strong>Objective: </strong>Neurofibromatosis type-1 (NF1) patients rarely develop mucosal melanomas. We report a rare form of anorectal mucosal melanoma (ARMM) in an NF1 syndromic patient profiled for genomics and transcriptomics to assess the determinants of the response to nivolumab.</p><p><strong>Methods: </strong>Primary melanoma and metastases were analyzed with targeted sequencing and gene expression profile (tGEP). We applied <i>in silico</i> (cBioPortal and predictor tools) and <i>in vitro</i> (hybrid minigene) approaches to confirm the variant pathogenicity.</p><p><strong>Results: </strong>We detected the novel c.4269+2_4269+3delTG germline splicing variant in <i>NF1</i>, which proved to be pathogenic by the minigene assay showing an aberrant splicing. The tumor showed a copy-number (CN) neutral loss of heterozygosity for the WT allele, and both ARMM and metastases carried several CN gains associated with <i>NF1</i>-driven carcinogenesis and very low mutation burden. The tGEP analysis unveiled a macrophagic infiltration, with a pro-inflammatory M1-type polarization, in the context of lack of PD-L1 expression.</p><p><strong>Conclusions: </strong>The response to nivolumab in a germline NF1-driven ARMM case seems independent from levels of TMB and PD-L1 expression and may be mediated by inflammatory response induced by M1-polarized macrophages.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"423-429"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534968","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}
引用次数: 0
TFE3-rearranged and TFEB-altered renal cell carcinoma: from classification to real-life. Insights from a national Italian survey. tfe3重排和tfeb改变的肾细胞癌:从分类到现实生活。来自意大利全国调查的见解。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1518
Stefano Marletta, Anna Caliò, Giuseppe Nicolò Fanelli, Paola Bianco, Angelo Giovanni Bonadio, Claudia Covelli, Simona Francesconi, Mariia Ivanova, Daniele Liscia, Alessia Moro, Daniela Onnis, Maria Rosaria Raspollini, Costantino Ricci, Steno Sentinelli, Marina Valeri, Guido Martignoni
{"title":"TFE3-rearranged and TFEB-altered renal cell carcinoma: from classification to real-life. Insights from a national Italian survey.","authors":"Stefano Marletta, Anna Caliò, Giuseppe Nicolò Fanelli, Paola Bianco, Angelo Giovanni Bonadio, Claudia Covelli, Simona Francesconi, Mariia Ivanova, Daniele Liscia, Alessia Moro, Daniela Onnis, Maria Rosaria Raspollini, Costantino Ricci, Steno Sentinelli, Marina Valeri, Guido Martignoni","doi":"10.32074/1591-951X-N1518","DOIUrl":"10.32074/1591-951X-N1518","url":null,"abstract":"<p><strong>Objective: </strong>Ongoing discoveries in cancer research keep expanding the landscape of renal cell carcinoma classification, particularly for \"molecularly-defined\" tumors like TFE3-rearranged and TFEB-altered renal cell carcinoma. However, scientific updates often do not align with pathologists' daily practice and resources. Herein, we present the results from a national Italian survey assessing physicians' personal experience on TFE3-rearranged and TFEB-altered renal cell carcinomas.</p><p><strong>Methods: </strong>An online questionnaire encompassing 26 questions was delivered to the Italian Study Group of Uropathology (GIUP) members, addressing critical concerns on their routine approach to these tumors. The answers were collected and further analyzed.</p><p><strong>Results: </strong>Thirteen pathologists with varying uropathological experience responded to the survey. Data confirmed the rarity of these neoplasms, with 69% of participants experiencing fewer than five or none at all. Despite this, aggressive behavior was documented by half of the respondents. Unusual morphology (62%) and young age (38%) were identified as the most relevant clues for suspecting TFE3-rearranged and TFEB-altered renal cell carcinoma. However, variability was observed in the specific histological features and the age threshold. The majority of the participants (54%) agreed on the need for ancillary molecular techniques for diagnostic purposes. Regarding immunohistochemistry, all professionals relied on multiple assays, attributing a primary role to a panel including cathepsin K, melanocytic markers (HMB45 and melan-A), PAX8, cytokeratin 7, and CA9. Additionally, most (58%) reported routine TFE3 immunohistochemical staining, although generally considering it reliable as long as diffuse and intense (58%) or requiring FISH confirmation in every positive case (25%). As for this latter, variability was recorded regarding split-signals positivity cut-off.</p><p><strong>Conclusions: </strong>The continuous evolution of renal cell carcinoma classification significantly impacts the pathologists' routine approach. Our survey underscores the importance of ongoing knowledge sharing and heightened awareness for accurately identifying TFE3-rearranged and TFEB-altered renal cell carcinoma and providing further insights on still unsolved issues.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"384-392"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534085","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}
引用次数: 0
Early gestational choriocarcinoma: report of two cases and review of the literature. 妊娠早期绒毛膜癌2例报告并文献复习。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N994
Angela Guerriero, Lara Alessandrini, Luisa Santoro, Kathrin Ludwig, Vennus Shafiei, Pietro Goglia, Pava Srsen, Giulia Tasca, Angelo Paolo Dei Tos
{"title":"Early gestational choriocarcinoma: report of two cases and review of the literature.","authors":"Angela Guerriero, Lara Alessandrini, Luisa Santoro, Kathrin Ludwig, Vennus Shafiei, Pietro Goglia, Pava Srsen, Giulia Tasca, Angelo Paolo Dei Tos","doi":"10.32074/1591-951X-N994","DOIUrl":"10.32074/1591-951X-N994","url":null,"abstract":"<p><p>Gestational choriocarcinoma (GCC) is a malignant and aggressive tumor composed of neoplastic trophoblasts rarely arising months after a normal gestation or after an hydatidiform mole (HM). Histologically, its main diagnostic features are a trimorphic population of trophoblast cells and an absence of chorionic villi. Recently, extremely rare cases of GCC diagnosed in molar and in placenta specimens have been described and accepted as early forms of GCC. We report two cases of GCC diagnosed in a term placenta and in a complete HM (CHM) and underline the importance of recognizing such a rare early form of GCC.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"439-442"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534903","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}
引用次数: 0
Trends in Thyroid Fine-Needle Aspiration Cytology - Results from the Italian Cytopathology Committee National Practice Survey. 甲状腺细针穿刺细胞学趋势——意大利细胞病理学委员会国家实践调查结果。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1295
Gennaro Acanfora, Mariantonia Nacchio, Carla Baronchelli, Amedeo Boscaino, Carolina Buriani, Elisabetta Carico, Andrea Cavazzana, Anna Maria Cesinaro, Doglioni Claudio, Immacolata Cozzolino, Anna Crescenzi, Stefania Damiani, Giovanni De Chiara, Gisele de Rezende, Ludovica de Vincentiis, Guido Fadda, Gerardo Ferrara, Pironi Flavio, Giacomo Gazzano, Annarita Gencarelli, Francesca Grillo, Leo Guidobaldi, Maria Letizia Lai, Gaetano Magro, Grazia Marangi, Fabio Pagni, Gianmaria Pennelli, Simonetta Piana, Michele Pirrelli, Stefano Pizzolitto, Giuseppina Renzulli, Esther Diana Rossi, Silvia Taccogna, Silvia Uccella, Clara Ugolini, Andrea Vecchione, Elena Vigliar, Marco Volante, Roberta Zappacosta, Francesco Alfredo Zito, Giovanni Tallini, Giancarlo Troncone, Claudio Bellevicine
{"title":"Trends in Thyroid Fine-Needle Aspiration Cytology - Results from the Italian Cytopathology Committee National Practice Survey.","authors":"Gennaro Acanfora, Mariantonia Nacchio, Carla Baronchelli, Amedeo Boscaino, Carolina Buriani, Elisabetta Carico, Andrea Cavazzana, Anna Maria Cesinaro, Doglioni Claudio, Immacolata Cozzolino, Anna Crescenzi, Stefania Damiani, Giovanni De Chiara, Gisele de Rezende, Ludovica de Vincentiis, Guido Fadda, Gerardo Ferrara, Pironi Flavio, Giacomo Gazzano, Annarita Gencarelli, Francesca Grillo, Leo Guidobaldi, Maria Letizia Lai, Gaetano Magro, Grazia Marangi, Fabio Pagni, Gianmaria Pennelli, Simonetta Piana, Michele Pirrelli, Stefano Pizzolitto, Giuseppina Renzulli, Esther Diana Rossi, Silvia Taccogna, Silvia Uccella, Clara Ugolini, Andrea Vecchione, Elena Vigliar, Marco Volante, Roberta Zappacosta, Francesco Alfredo Zito, Giovanni Tallini, Giancarlo Troncone, Claudio Bellevicine","doi":"10.32074/1591-951X-N1295","DOIUrl":"10.32074/1591-951X-N1295","url":null,"abstract":"<p><strong>Objective: </strong>To understand the state of the art of Italian thyroid cytopathology practice, a survey was sent by the Italian Committee of cytopathology to the 846 registered emails of the Italian society of pathology and cytology (SIAPEC) members.</p><p><strong>Methods: </strong>A survey divided in 4 sections (geographic distribution, pre-analytics, diagnostic work up, molecular testing) was sent to SIAPEC members in April 2023. An additional set of questions regarding molecular analysis was sent to first round participants.</p><p><strong>Results: </strong>A total of 104/846 (12.2%) SIAPEC members replied to the survey. Non-pathologist physicians performed FNA in the majority of cases (78/104, 75%). The Italian Consensus for the Classification and Reporting of Thyroid Cytology (ICCRTC) system is adopted by most centers (94/104 90,38%), although in 32.6% it was used along with other classifications systems. Only 44/104 (42.2%) of the participants performed molecular tests on thyroid FNA, mostly upon requests from the caring physician (25/41, 61.1%).</p><p><strong>Conclusion: </strong>This survey offers a snapshot of the current Italian thyroid FNA practice. The volume of thyroid FNA performed is similar to the pre-Covid workload and the ICCRTC is the most frequently adopted classification system. Molecular tests are performed by a significant minority of participants, with different testing modalities and clinical-pathological indications.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"309-319"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534208","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}
引用次数: 0
Lung and nodal hairy cell leukemia with concurrent infectious granulomatosis: a mimic of metastatic lung epithelial neoplasia. 肺和淋巴结毛细胞白血病并发感染性肉芽肿病:转移性肺上皮瘤样病变的模拟。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N831
Massimiliano Mancini, Giulio Maurizi, Evelina Rogges, Stefania Scarpino, Stefano Fratoni, Davide Vacca, Katia Paciaroni, Andrea Vecchione, Arianna Di Napoli
{"title":"Lung and nodal hairy cell leukemia with concurrent infectious granulomatosis: a mimic of metastatic lung epithelial neoplasia.","authors":"Massimiliano Mancini, Giulio Maurizi, Evelina Rogges, Stefania Scarpino, Stefano Fratoni, Davide Vacca, Katia Paciaroni, Andrea Vecchione, Arianna Di Napoli","doi":"10.32074/1591-951X-N831","DOIUrl":"10.32074/1591-951X-N831","url":null,"abstract":"<p><p>Hairy cell leukemia (HCL) is a rare, indolent B-cell neoplasm, typically involving bone marrow, spleen, and peripheral blood, with extranodal sites rarely affected. Herein, we present the unique case of a 52-year-old man with lung and lymph node involvement by HCL concurrently with atypical mycobacteriosis. Initial imaging showed mediastinal lymphadenopathy and a pulmonary nodule, which raised suspicion for lung neoplasia. A minimally invasive biopsy of the mediastinal nodes and hilar lesion revealed a lymphoid proliferation mixed with necrotizing granulomatous inflammation, with an immunophenotype consistent with HCL and BRAF V600E mutation, confirmed by digital PCR. Notably, molecular analyses detected atypical mycobacteria in lymph nodes. This unusual co-occurrence of HCL with atypical mycobacterial infection in the lung and lymph nodes poses a complex diagnostic and therapeutic challenge, highlighting the importance of recognizing such presentations to optimize patient management.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"397-402"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534951","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}
引用次数: 0
Current approaches, barriers, and future directions in pleural mesothelioma diagnostics: results from an Italian National Survey. 胸膜间皮瘤诊断的当前方法、障碍和未来方向:来自意大利国家调查的结果
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1281
Federica Pezzuto, Gianluca Lopez, Francesca Barbisan, Lorenzo Rosso, Giuseppe Pelosi, Mauro Papotti, Luisella Righi, Fiorella Calabrese
{"title":"Current approaches, barriers, and future directions in pleural mesothelioma diagnostics: results from an Italian National Survey.","authors":"Federica Pezzuto, Gianluca Lopez, Francesca Barbisan, Lorenzo Rosso, Giuseppe Pelosi, Mauro Papotti, Luisella Righi, Fiorella Calabrese","doi":"10.32074/1591-951X-N1281","DOIUrl":"10.32074/1591-951X-N1281","url":null,"abstract":"<p><strong>Objective: </strong>This nationwide survey aimed to assess current diagnostic practices, adherence to international guidelines, and challenges encountered by Italian pathologists in the diagnosis of diffuse pleural mesothelioma (PM).</p><p><strong>Methods: </strong>A structured questionnaire with 38 items was distributed electronically via Google Forms to Italian pathologists involved in mesothelioma diagnosis. Questions covered demographics, biopsy practices, pathology report, immunohistochemistry, molecular diagnostics, educational needs, and barriers to collaborative research.</p><p><strong>Results: </strong>Participants represented diverse experience levels and institutional affiliations, primarily academic medical centers. Significant variability was found in tissue sampling and biobanking practices. Major diagnostic challenges included identifying sarcomatoid/desmoplastic patterns and inadequate adipose tissue in biopsies. Most pathologists managed inconclusive cases via multidisciplinary discussions and molecular analyses (BAP1, MTAP). Barriers identified included inadequate digital pathology infrastructure and limited standardized protocols for tissue collection. Participants strongly favored enhanced molecular resources, standardized histopathological protocols, and national collaborative initiatives.</p><p><strong>Conclusions: </strong>Improved diagnostic accuracy requires targeted training, standardized protocols, enhanced molecular diagnostic capabilities, and structured national collaborations.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"366-373"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534958","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}
引用次数: 0
Lymphoepithelioma-like carcinoma of urinary bladder - a rare subtype of urothelial carcinoma: a series of 12 cases. 膀胱淋巴上皮瘤样癌——一种罕见的尿路上皮癌亚型:附12例报告
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N961
Rutvij Khedkar, Ramandeep Kaur, Swapnil Rane, Gagan Prakash, Mahendra Pal, Amandeep Arora, Amit Joshi, Priyamvada Maitre, Vedang Murthy, Sangeeta Desai, Santosh Menon
{"title":"Lymphoepithelioma-like carcinoma of urinary bladder - a rare subtype of urothelial carcinoma: a series of 12 cases.","authors":"Rutvij Khedkar, Ramandeep Kaur, Swapnil Rane, Gagan Prakash, Mahendra Pal, Amandeep Arora, Amit Joshi, Priyamvada Maitre, Vedang Murthy, Sangeeta Desai, Santosh Menon","doi":"10.32074/1591-951X-N961","DOIUrl":"10.32074/1591-951X-N961","url":null,"abstract":"<p><p>Lymphoepithelioma-like carcinoma (LELCa) is a rare and aggressive subtype of urothelial carcinoma. This study presents a series of 12 cases of LELCa of the urinary bladder, highlighting its clinical and pathological features with treatment related details. The majority of cases presented with advanced-stage disease, often mixed with conventional urothelial carcinoma. Histologically, LELCa is characterized by sheets of undifferentiated tumor cells with prominent nucleoli in a syncytial growth pattern, accompanied by a dense lymphocytic infiltrate. Immunohistochemistry aids in confirming the epithelial nature of the tumor cells. Treatment strategies for LELCa are evolving. While radical cystectomy remains the standard treatment for advanced-stage disease, a multimodal approach, including chemotherapy and radiation therapy, may be considered, especially in cases with pure or predominant LELCa histology.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"409-417"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534966","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}
引用次数: 0
Mesonephric-like metaplasia of the endometrium in a woman treated with letrozole: morphological, immunohistochemical and molecular analysis. 来曲唑治疗女性子宫内膜中肾样化生:形态学、免疫组织化学和分子分析。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N774
Antonio Travaglino, Angela Santoro, Damiano Arciuolo, Antonio Raffone, Giuseppe Angelico, Jvan Casarin, Susanna Ronchi, Nicoletta D'Alessandris, Giulia Scaglione, Michele Valente, Belen Padial Urtueta, Francesca Addante, Nadine Narducci, Alessia Piermattei, Thomas Rossi, Federica Cianfrini, Gian Franco Zannoni, Stefano La Rosa
{"title":"Mesonephric-like metaplasia of the endometrium in a woman treated with letrozole: morphological, immunohistochemical and molecular analysis.","authors":"Antonio Travaglino, Angela Santoro, Damiano Arciuolo, Antonio Raffone, Giuseppe Angelico, Jvan Casarin, Susanna Ronchi, Nicoletta D'Alessandris, Giulia Scaglione, Michele Valente, Belen Padial Urtueta, Francesca Addante, Nadine Narducci, Alessia Piermattei, Thomas Rossi, Federica Cianfrini, Gian Franco Zannoni, Stefano La Rosa","doi":"10.32074/1591-951X-N774","DOIUrl":"10.32074/1591-951X-N774","url":null,"abstract":"<p><p>Endometrial mesonephric-like adenocarcinoma (MLA) is thought to arise from endometrial epithelium through a Müllerian-to-mesonephric transdifferentiation. However, no benign or precancerous mesonephric-like endometrial lesions have been reported so far. Herein, we describe the first case of endometrial mesonephric-like metaplasia.</p><p><p>A 61-year-old woman who was treated with letrozole for 5 years underwent removal of an endometrial polyp. Histological examination highlighted an area of small round glands resembling mesonephric remnants, with no cytological atypia and no mitotic activity. Immunohistochemistry showed positivity for PAX8, estrogen receptor and GATA3, patchy p16 expression, wild-type p53 pattern, low Ki-67 expression, and negativity for progesterone receptor, TTF1 and CD10. Next-generation sequencing analysis of 17 genes (<i>KRAS, NRAS, HRAS, BRAF, EGFR, ERBB2, FGFR3, IDH1, IDH2, KIT, MET, PDGFRA, PIK3CA, RET, ROS1</i>) showed no pathogenetic mutations.</p><p><p>These features appear consistent with a benign endometrial mesonephric-like metaplasia. Its relationships with hormone treatment and with MLA carcinogenesis remain to be defined.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"393-396"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534932","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}
引用次数: 0
Interventional pathologists: a new challenge for pathologists in the modern era. 介入病理学家:现代病理学家面临的新挑战。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1172
Sofia Asioli, Maria Berezina, Giulia Querzoli, Maria Pia Foschini
{"title":"Interventional pathologists: a new challenge for pathologists in the modern era.","authors":"Sofia Asioli, Maria Berezina, Giulia Querzoli, Maria Pia Foschini","doi":"10.32074/1591-951X-N1172","DOIUrl":"10.32074/1591-951X-N1172","url":null,"abstract":"<p><p>This letter highlights the growing importance of Interventional Pathologists (IP) in modern diagnostic practice. Building on the established role of Interventional Cytopathologists, the integration of In-Vivo and Ex-Vivo Confocal Microscopy (CFM) into surgical and outpatient settings enables real-time histological evaluation. These technologies allow for rapid and accurate diagnosis, reduce procedural repetition, and shorten time to treatment. Clinical applications-including in neurosurgery, dermatology, and breast pathology-demonstrate high diagnostic concordance with standard histology. The authors advocate for the formal recognition and training of Interventional Pathologists to meet the evolving demands of precision medicine.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"446-448"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534938","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}
引用次数: 0
HER2-positive neuroendocrine breast carcinoma: a case study uncovers CCND1, FGF19, and IGF1R amplifications as new molecular drivers. her2阳性神经内分泌乳腺癌:一个案例研究揭示了CCND1, FGF19和IGF1R扩增作为新的分子驱动因素。
IF 2.9
PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N981
Margherita Zordan, Elena Fiorio, Valeria Maffeis, Andrea Mafficini, Giulia Querzoli, Bianca Barioglio, Pamela Biondani, Matteo Brunelli, Alessandra Invento, Francesca Pellini, Claudio Luchini, Aldo Scarpa, Alessia Nottegar
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