PATHOLOGICA最新文献_第6页

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

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

{"title":"HER2-positive neuroendocrine breast carcinoma: a case study uncovers CCND1, FGF19, and IGF1R amplifications as new molecular drivers.","authors":"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","doi":"10.32074/1591-951X-N981","DOIUrl":"10.32074/1591-951X-N981","url":null,"abstract":"Primary neuroendocrine carcinoma of the breast (NEBC) is a rare entity among breast malignancies, and is usually associated with a more aggressive clinical course compared to other types of invasive breast cancer. Although some studies have characterized the molecular profile of NEBCs using targeted sequencing, these tumors are often treated similarly to other primary breast carcinomas despite their unique morpho-phenotypic characteristics.In this study, we present the case of a woman with HER2-positive primary large cell NEBC with homolateral axillary nodal metastases. After neoadjuvant therapy, the patient underwent surgical resection of the breast, showing a partial pathological response. Next-generation sequencing was performed on pre- and post-treatment samples using a 174-genes panel. Both samples exhibited a similar molecular profile, including a somatic mutation in GATA3 and amplifications of CCND1, FGF19, and IGF1R. ERBB2 amplification was identified in the pre-operative biopsy but was lacking in the post-treatment surgical specimen.This study represents the first report of CCND1, FGF19, and IGF1R gene amplification in a breast neuroendocrine carcinoma. These findings provide new insights into the molecular profile of this entity and may contribute to future studies on precision oncology.","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"348-356"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534910","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

The shrinking workforce of pathologists: implications for healthcare and possible solutions. 病理学家队伍的萎缩：对医疗保健的影响和可能的解决方案。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1156

Francesco Giuseppe Carbone

引用次数: 0

Shortage of Pathologists: a candid narrative. 病理学家的短缺：一个坦率的叙述。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1613

Massimo Barberis

引用次数: 0

SPOP and MMR/MSI alterations in prostate cancer: relationship with PD-L1, TILs and AR expression. 前列腺癌SPOP和MMR/MSI变化：与PD-L1、TILs和AR表达的关系

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N979

Vincenzo Fiorentino, Emanuela Germanà, Gabriele Ricciardi, Sara Capodimonti, Tonia Cenci, Augusto Orlandi, Valeria Zuccalà, Eugenia Guida, Vincenzo Ficarra, Cristina Pizzimenti, Angelo Totaro, Guido Fadda, Susanna Dolci, Francesco Pierconti, Maurizio Martini

{"title":"SPOP and MMR/MSI alterations in prostate cancer: relationship with PD-L1, TILs and AR expression.","authors":"Vincenzo Fiorentino, Emanuela Germanà, Gabriele Ricciardi, Sara Capodimonti, Tonia Cenci, Augusto Orlandi, Valeria Zuccalà, Eugenia Guida, Vincenzo Ficarra, Cristina Pizzimenti, Angelo Totaro, Guido Fadda, Susanna Dolci, Francesco Pierconti, Maurizio Martini","doi":"10.32074/1591-951X-N979","DOIUrl":"10.32074/1591-951X-N979","url":null,"abstract":"Objective: Despite the promising introduction of anti-PD-L1 therapy for advanced stage of prostate cancer (PCa), recent studies have demonstrated limited success, suggesting the need to improve patient selection.Methods: We retrospectively selected 153 PCa patients. We performed SPOP mutational analysis and evaluated PD-L1 expression, MMR/MSI status, TIL (as CD4/CD8 ratio), and the mRNA expression of AR and CD274. Using SPOP interfering-RNA in two PCa cell lines (LNCaP, PC3) and western-blot analysis, we examined the role of SPOP silencing on CD274 expression.Results: Functionally altered SPOP mutations (14 out of 153 samples, 9.15%) and MMR/MSI status (3.3%) were associated with higher PD-L1 expression (both p < 0.0001), lower TIL (p < 0.0001 and p = 0.0004), and higher Gleason scores (both p < 0.05). SPOP-mutated patients exhibited significantly higher CD274, and AR mRNA expression compared to those without mutations (p = 0.0006 and p = 0.0148). Reducing SPOP expression in cancer cell lines resulted in a significant upregulation of PD-L1 expression.Conclusions: Our analysis identifies SPOP mutations and MMR/MSI status as cofactors in high PD-L1 expression and CD8/TIL presence in PCa, representing potential markers for selecting patients who are more likely to respond immunotherapy or to combined treatment.","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"338-347"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534105","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

Data-driven insights into post-autopsy consultations: causes of perinatal mortality and parental outcomes. 数据驱动的见解尸检后咨询：围产期死亡的原因和父母的结果。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1059

Rosario Barranco, Matteo Lorenzoni, Francesco Ausania, Francesco Ventura, Riccardo Guglielmo, Maria Teresa Divizia, Simone Ferrero, Pierangela De Biasio, Cesare Arioni, Chiara Maria Biatta, Gabriele Gaggero, Michele Paudice, Valerio Gaetano Vellone

{"title":"Data-driven insights into post-autopsy consultations: causes of perinatal mortality and parental outcomes.","authors":"Rosario Barranco, Matteo Lorenzoni, Francesco Ausania, Francesco Ventura, Riccardo Guglielmo, Maria Teresa Divizia, Simone Ferrero, Pierangela De Biasio, Cesare Arioni, Chiara Maria Biatta, Gabriele Gaggero, Michele Paudice, Valerio Gaetano Vellone","doi":"10.32074/1591-951X-N1059","DOIUrl":"10.32074/1591-951X-N1059","url":null,"abstract":"Objective: Perinatal mortality deeply affects parents and healthcare providers. Post-autopsy consultations (PACs) help parents understand the causes of fetal death and offer emotional support. This study evaluates their effectiveness in emotional healing, preventing medico-legal disputes, and identifying key death causes.Methods: This retrospective study analyzes 360 fetal autopsies at San Martino Hospital, Genoa (2013-2021). Among them, 120 parents sought PACs. Causes of fetal death were classified using the relevant condition at death (ReCoDe) system, and parental emotional outcomes were evaluated based on consultation timing.Results: Fetal causes, mainly congenital anomalies, accounted for 52.5% of deaths, while placental causes were 46.7%. PACs performed within 5 months of loss led to better emotional outcomes, whereas delayed PACs were linked to ongoing distress. Parents who attended with partners reported greater emotional stability. Additionally, PACs helped reduce medico-legal disputes by clarifying causes of death.Conclusions: PACs are crucial for helping parents cope with fetal loss, offering emotional closure and reducing legal disputes. A multidisciplinary approach with clear communication from healthcare professionals addresses both the medical and emotional aspects of perinatal mortality. Tailored follow-up care is essential for supporting grieving parents and managing future pregnancies.","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"357-365"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534889","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

Oncotype DX in clinical practice: impact on treatment decisions and healthcare system economy. 临床实践中的Oncotype DX：对治疗决策和医疗保健系统经济的影响。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1139

Alessia Capozzi, Silvia Maria Rossi, Giovanna Sabarese, Marco Germani, Gabriella Gullotta, Stefania Sfregola, Giuseppe Perrone

{"title":"Oncotype DX in clinical practice: impact on treatment decisions and healthcare system economy.","authors":"Alessia Capozzi, Silvia Maria Rossi, Giovanna Sabarese, Marco Germani, Gabriella Gullotta, Stefania Sfregola, Giuseppe Perrone","doi":"10.32074/1591-951X-N1139","DOIUrl":"10.32074/1591-951X-N1139","url":null,"abstract":"Objective: The aim of this study is to assess the impact of Oncotype DX on treatment decisions and healthcare economy.Methods: Data were retrospectively collected from Fondazione Policlinico Universitario Campus Bio-Medico of Rome. 313 female patients with HR-positive, HER2-negative breast cancer underwent Oncotype DX between August 2020 and January 2024. Recurrence score, recurrence risk and chemotherapy benefit were collected from Oncotype DX report. Clinical and pathological data were collected. To objectify the oncological prescription based on clinicopathological variables, we used PREDICT 2.2 algorithm. Reimbursements, hospital accesses and number of health services in one-year follow-up were also collected.Results: Oncotype DX did not indicate chemotherapy in 223/313 (71.2%) patients. In the PREDICT 2.2 scenario, 147/313 (47%) patients were not indicated chemotherapy. Thus, genomic test approach led to a decrease of 24.2% in chemotherapy prescription. Patients receiving chemotherapy had 21 (+91.3%) more hospital accesses, 115 (+101.8%) more health services and a reimbursement of €2811 (+31.5%) higher than patients not receiving chemotherapy (median values).Conclusions: Oncotype DX results in lower rates of chemotherapy prescription and in possible healthcare cost savings.","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"374-383"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534961","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

A lung nodule showing both adenocarcinoma and diffuse large lymphoma: a pathological anatomy surprise. 肺结节显示腺癌和弥漫性大淋巴瘤：病理解剖上的意外。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N904

Carolina Sassorossi, Qianqian Zhang, Alessandra Cancellieri, Elena Maiolo, Marco Chiappetta

引用次数: 0

Myxoid glioneuronal tumor with PDGFRA p.K385 mutation in the periventricular white matter: a rare case and literature insights. 脑室周围白质伴PDGFRA p.K385突变的黏液样胶质细胞瘤：一例罕见病例和文献见解。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N1071

Serena Salzano, Rosario Caltabiano, Tindaro Buzzanca, Francesco Certo, Giuseppe Barbagallo, Michele Massimino, Paolo Vigneri, Giuseppe Broggi

引用次数: 0

Spinal drop metastases of choroid plexus papilloma: a brief report and updated literature review. 脉络膜丛乳头状瘤的脊髓滴转移：一个简短的报告和最新的文献综述。

IF 2.9

PATHOLOGICA Pub Date : 2025-09-01 DOI: 10.32074/1591-951X-N818

Filippo Nozzoli, Agnese Pedone, Elena Nucci, Manuel Camelia, Giovanni Muscas, Tommaso Casseri, Francesca Di Pasquale, Isacco Desideri, Enrico Fainardi, Lorenzo Livi, Alessandro Della Puppa

{"title":"Spinal drop metastases of choroid plexus papilloma: a brief report and updated literature review.","authors":"Filippo Nozzoli, Agnese Pedone, Elena Nucci, Manuel Camelia, Giovanni Muscas, Tommaso Casseri, Francesca Di Pasquale, Isacco Desideri, Enrico Fainardi, Lorenzo Livi, Alessandro Della Puppa","doi":"10.32074/1591-951X-N818","DOIUrl":"10.32074/1591-951X-N818","url":null,"abstract":"Choroid plexus papillomas (CPPs) are rare central nervous system benign tumours and spinal metastases are even less frequent. Herein, we describe a case of a 51-year-old man with several episodes of loss of consciousness. Brain magnetic resonance imaging (MRI) displayed a fourth ventricle contrast-enhancing lesion that was totally resected, and histopathological findings showed a papillary neoplasm derived from choroid plexus epithelium, with mild pleomorphism and absence of mitotic activity, consistent with CPP. Two months after the first operation, multiple spinal drop metastases at L4, L5 and S1-S2 were revealed through spine MRI. Histological examination of the spinal lesions fulfilled as well the diagnostic criteria for CPP. Radiological and histological findings are presented, and the relevant literature of spinal spreading of CPPs is discussed. This special case, together with the literature review, helps expanding the spectrum of knowledge on benign CPPs, their potential for disease spread and progression and highlights the need to identify biomarkers that correlate with clinical behaviour.","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 4","pages":"430-435"},"PeriodicalIF":2.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534073","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