PATHOLOGICA最新文献

{"title":"Primary angiitis of the central nervous system.","authors":"Francesca Gianno, Manila Antonelli, Antonio d'Amati, Giuseppe Broggi, Angela Guerriero, Alessandra Erbetta, Luigi Caputi, Gianluca Marucci","doi":"10.32074/1591-951X-987","DOIUrl":"10.32074/1591-951X-987","url":null,"abstract":"<p><p>Primary angiitis of the central nervous system (CNS) is an uncommon inflammatory disorder, with highly variable clinical presentation. It needs to be differentiated from several mimickers, such as CNS involvement in systemic vasculitides, connective tissue disorders, infectious disease, and leukodystrophy as well as neoplastic diseases. The diagnosis requires a combination of clinical and laboratory investigations, multimodal imaging, and histopathological examination, which should be available for confirmation. In the present paper, the histopathological features of primary angiitis of the CNS are described and highlighted to help pathologists avoid misdiagnosis of a treatable acquired disease.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 2","pages":"134-139"},"PeriodicalIF":3.5,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11138766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065428","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":"Vasculitis and organ pathology: a practical approach to histological diagnosis and clinical-pathologic correlations.","authors":"Carla Giordano, Giulia d'Amati","doi":"10.32074/1591-951X-995","DOIUrl":"10.32074/1591-951X-995","url":null,"abstract":"","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 2","pages":"77"},"PeriodicalIF":4.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11138765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065468","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":"TROP-2, NECTIN-4 and predictive biomarkers in sarcomatoid and rhabdoid bladder urothelial carcinoma.","authors":"Matteo Brunelli, Stefano Gobbo, Giorgio Malpeli, Grazia Sirgiovanni, Claudia Caserta, Enrico Munari, Simona Francesconi, Anna Caliò, Guido Martignoni, Alessia Cimadamore, Alessandro Veccia, Alessandro Antonelli, Marcello Tucci, Francesco Pierconti, Isabelle Malak Hattab, Albino Eccher, Stefano Ascani, Michele Milella, Lucio Buffoni, Liang Cheng, Sergio Bracarda","doi":"10.32074/1591-951X-937","DOIUrl":"10.32074/1591-951X-937","url":null,"abstract":"<p><strong>Introduction: </strong>The surface protein TROP-2/TACSTD2 and the cell adhesion protein NECTIN-4/NECTIN4 are responsible for the efficacy of anticancer therapies based on antibody-drug conjugates (ADC) targeting intracellular microtubules. In contrast with common histologic subtypes of bladder urothelial carcinoma (BUC), little is known of TROP-2 and NECTIN-4 expression in sarcomatoid and rhabdoid BUC.</p><p><strong>Aims: </strong>In this study, we aimed to analyze TROP-2 and NECTIN-4 expression and additional predictive biomarkers by immunohistochemistry and fluorescence in situ hybridization (FISH) on 35 undifferentiated BUC (28 sarcomatoid and 7 rhabdoid). Wide genomic investigation was also performed on 411 BUC cases of the PanCancer Atlas, focusing on genes related to the microtubule pathways.</p><p><strong>Results: </strong>Seven of 35 (20%) undifferentiated BUC showed expression of TROP-2. NECTIN-4 was expressed in 10 cases (29%). Seven cases (20%) co-expressed TROP-2 and NECTIN-4. HER-2 FISH was amplified in 5 cases (14%) while HER-2 immunoexpression was observed in 14 cases (40%). PD-L1 scored positive for combined proportion score (CPS) in 66% of cases and for tumor proportion score (TPS) in 51% of cases. Pan-NTRK1-2/3 was elevated in 9 cases (26%) and FGFR-2/3 was broken in 7 of 35 cases (20%). Of 28 sarcomatoid BUC, 9 (32%) were negative for all (TROP-2, NECTIN-4, PD-L1, HER-2, FGFR and pan-NTRK) biomarkers and 3 (11%) expressed all five biomarkers. Among cases with rhabdoid dedifferentiation, 1 of 7 (14%) showed activation of all biomarkers, whereas 2 of 7 (28%) showed none. The mRNA analysis identified microtubule-related genes and pathways suitable for combined ADC treatments in BUC.</p><p><strong>Conclusion: </strong>Sarcomatoid and rhabdoid BUC do harbor positive expression of the ADC targets TROP-2 or NECTIN-4 in a relatively modest subset of cases, whereas the majority do not. Different combinations of other positive biomarkers may help the choice of medical therapies. Overall, these findings have important clinical implications for targeted therapy for BUC.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"55-61"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140120960","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":"Changes in breast cancer grade from biopsy to excision following surgery or primary chemotherapy.","authors":"Ádám Ferenczi, Gábor Cserni","doi":"10.32074/1591-951X-958","DOIUrl":"10.32074/1591-951X-958","url":null,"abstract":"<p><strong>Objective: </strong>To compare histological grade (G) of breast cancer and its components (scores for tubule formation - T, nuclear pleomorphism - P and mitotic counts - M) in core needle biopsies (CNBs) and surgical excision specimens (EXC) in patients treated with primary surgery (CHIR) or primary chemotherapy (PST).</p><p><strong>Methods: </strong>Grade of matched pairs of carcinomas in CNB and EXC was assessed according to the Nottingham grading system.</p><p><strong>Results: </strong>PST cases tended to have higher pretreatment G. Concordance rates in the CHIR (n = 760) and PST (n = 148) groups for T, P, M and G were 79%, 70%, 75%, 71% and 77%, 70%, 50%, 62%, respectively; differences in concordance rates were significant in M (p < 0.0001) and G (p = 0.024). For discordant cases in the CHIR group, CNBs tended to overestimate T and underestimate P, M and G, whereas in the PST group, the same trends were identified for T and P, but there was a significant tendency for M and G to be lower in EXC specimens.</p><p><strong>Conclusions: </strong>The reversal of M and G underestimation in CNB to \"overestimation\" in the PST group can only be explained with the effect of mitosis reduction following chemotherapy. Whether the posttreatment decrease in G reflects any prognostic value remains to be elucidated.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"22-31"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121005","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":"Soft tissue tumours of the penis. The 30-year Istituto Nazionale Tumori di Milano experience.","authors":"Maurizio Colecchia, Giacomo Maria Pini, Giancarlo Pruneri, Nicola Nicolai, Sascia Servillo","doi":"10.32074/1591-951X-953","DOIUrl":"10.32074/1591-951X-953","url":null,"abstract":"<p><strong>Objective: </strong>Small series and individual cases of penile soft tissue tumours are reported in the literature: these are rare tumours that represent less than 5% of all penile tumours.</p><p><strong>Methods: </strong>Penile soft tissue tumours were collected from the archive of the Department of Pathology at the Istituto Nazionale dei Tumori of Milan between January 1990 and October 2021. All available medical records were retrieved and reviewed to obtain clinical information.</p><p><strong>Results: </strong>Our series refers to the 30-year experience of highlighting the heterogeneity in the presentation and microscopic features of these rare sarcomas. 18 penile soft tissue tumours are described, 4 benign and 14 malignant. The mean age at diagnosis was 58.2 years (range 24-96 years) and 53.6 years among malignancies (range 24-89). The most frequent histotype was Kaposi's sarcoma (nr = 4) and very unusual histotypes were observed, namely low-grade fibromyxoid sarcoma, synovial sarcoma, proximal type epithelioid sarcoma and the first reported case of dedifferentiated liposarcoma of the penis.</p><p><strong>Conclusions: </strong>Among sarcomas of the genitourinary tract, tumours of the soft tissues of the penis are the rarest. Penile sarcomas can present at a young age. Kaposi's sarcoma in HIV-negative patients has a favorable outcome, while deep sarcomas have an aggressive behavior and poor prognosis.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"46-54"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140120958","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":"Advances in radiology and pathology of prostate cancer: a review for the pathologist.","authors":"Pietro Pepe, Andrea Fandella, Michele Barbera, Pasquale Martino, Francesco Merolla, Alessandro Caputo, Filippo Fraggetta","doi":"10.32074/1591-951X-925","DOIUrl":"10.32074/1591-951X-925","url":null,"abstract":"<p><p>Multiparametric magnetic resonance imaging (mpMRI) has improved systematic prostate biopsy procedures in the diagnosis of clinically significant prostate cancer (csPCa) by reducing the number of unnecessary biopsies; numerous level one evidence studies have confirmed the accuracy of MRI-targeted biopsy, but, still today, systematic prostate biopsy is recommended to reduce the 15-20% false negative rate of mpMRI. New advanced imaging has been proposed to detect suspicious lesions and perform targeted biopsies especially when mpMRI cannot be performed. Transrectal ultrasound (TRUS) modalities are emerging as methods with greater sensitivity and specificity for the detection of PCa compared to the traditional TRUS; these techniques include elastography and contrast-enhanced ultrasound, as well as improved B-mode and Doppler techniques. These modalities can be combined to define a novel ultrasound approach: multiparametric ultrasound (mpUS). More recently, micro-ultrasound (MicroUS) and prostate-specific membrane antigen (PSMA) positron emission tomography/computed tomography (PET/CT) have demonstrated to be sensitive for the detection of primary prostatic lesions resulting highly correlated with the aggressiveness of the primary prostatic tumor. In parallel, artificial intelligence is advancing and is set out to deeply change both radiology and pathology. In this study we address the role, advantages and shortcomings of novel imaging techniques for Pca, and discuss future directions including the applications of artificial intelligence-based techniques to imaging as well as histology. The significance of these findings for the practicing pathologist is discussed.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":" ","pages":"1-12"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724443","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":"Testicular metastasis of prostate adenocarcinoma: the other side of orchiepididymitis.","authors":"Gianluca Di Rienzo, Alessandro Tafuni, Umberto Maestroni, Livia Ruffini, Enrico Maria Silini, Donatello Gasparro, Francesco Paolo Pilato, Letizia Gnetti","doi":"10.32074/1591-951X-940","DOIUrl":"10.32074/1591-951X-940","url":null,"abstract":"<p><strong>Background: </strong>Metastatic prostate adenocarcinoma is a rare event and there are few references to this topic. We report an unusual case of prostate cancer metastasis and review of contemporary literature. Moreover, we discuss the pathogenesis and the clinical aspects of this event.</p><p><strong>Case presentation: </strong>A 70-year-old patient was admitted to the hospital for right scrotal pain. The ultrasound examination described an increase in testicular size, suggesting the possibility of orchiepididymitis. Past medical history reported a previous prostate adenocarcinoma. Inflammatory blood tests were normal. Importantly, PSA was 3.3 ng/ml. PET scan positivity in the scrotum raised suspicion of a relapse. Therefore, he underwent right orchiectomy.</p><p><strong>Conclusion: </strong>Although metastatic prostate adenocarcinoma is rare, a correct diagnosis is of paramount importance because the therapy changes accordingly. Patients who complain of scrotal pain need to be examined accurately. Although the most common cause behind this symptom is infectious, the patient's past medical history should be reviewed to exclude previous malignancies.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"69-74"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140120959","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":"Biphenotypic lung carcinoma with coexpression of TTF-1 and ΔNP63/P40 within most of the same individual cells: a further case confirming poor prognosis and a review of literature.","authors":"Alessandro Marando, Moreno Zagni, Mariachiara Negrelli, Emanuele Valtorta, Calogero Lauricella, Valentina Motta, Silvio Veronese, Giulio Cerea, Laura Giuseppina Giannetta, Gabriele Ciarlo, Diego Signorelli, Elio Gregory Pizzutilo, Emanuela Bonoldi, Giuseppe Pelosi","doi":"10.32074/1591-951X-957","DOIUrl":"10.32074/1591-951X-957","url":null,"abstract":"<p><p>The WHO Classification of Tumors, Thoracic Tumors, 5th edition, has outlined the use of TTF-1 and ΔNP63/P40 to discriminate between adenocarcinoma and squamous cell carcinoma. In 2015, the first description of a rare non-small cell lung carcinoma featuring co-expression of glandular and squamous differentiation within most of the same individual tumor cells was reported on, with ultrastructural and molecular demonstration of such a biphenotypic differentiation. We herein describe an additional case of this rare tumor entity, which is confirmed to be an aggressive neoplasm despite potential targets of therapy.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"13-21"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121004","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":"Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.","authors":"Evelina Rogges, Tiberio Corati, Michelina Amato, Domenico Campagna, Juliette Farro, Simona De Toffol, Lucio Fortunato, Leopoldo Costarelli","doi":"10.32074/1591-951X-936","DOIUrl":"10.32074/1591-951X-936","url":null,"abstract":"<p><p>Male breast cancer (MBC) accounts for approximately 1% of all breast cancers and among these infiltrating lobular carcinomas (ILC) represents only 1-2% of all MBC cases. Pleomorphic invasive lobular carcinoma (PILC) is an aggressive variant of ILC with only eight cases reported until now in males. Up to 10% of MBC cases have a germline pathogenic variant in a predisposing gene such as BRCA1 and BRCA2 genes. Mutations in PALB2 (partner and localizer of BRCA2) have been reported in men with breast cancer, with a frequency that ranges from 0.8 to 6.4%, but it has never been reported in male ILC. Here, we report a rare and interesting case of an invasive pleomorphic/solid lobular carcinoma, which carries a pathogenic variant in PALB2 gene, and a family history of breast cancer without other well defined risk factors for developing this type of neoplasia. In addition, we review the current literature.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"62-68"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121006","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":"Biomarker characterization in endometrial cancer in Europe: first survey data analysis from 69 pathological academic and hospital labs.","authors":"Angela Santoro, Emma Bragantini, Francesca Castiglione, Raji Ganesan, Xavier Matias-Guiu, Milo Frattini, Valerio Gallotta, Pablo Garcia, Yatish Pattni, Julia Tsiampali-Laprell, Brigitte Bisaro, Mattia Barbareschi, Gian Franco Zannoni","doi":"10.32074/1591-951X-926","DOIUrl":"10.32074/1591-951X-926","url":null,"abstract":"<p><strong>Introduction: </strong>Endometrial carcinoma (EC) is the commonest gynecological cancer affecting women in Western populations. To predict patient risk, the 2020 edition of the World Health Organization (WHO) Classification of Tumors of the Female Genital Tract stressed the importance of integrated histo-molecular classification of the disease. This survey analysis poses attention on the most frequently used immunohistochemical and molecular markers adopted in daily categorization of ECs in European laboratories.</p><p><strong>Methods: </strong>We analyzed data collected through questionnaires administered to 40 Italian, 20 Spanish, 3 Swiss and 6 United Kingdom (UK) laboratories. We collected information regarding daily practice in EC evaluation, specifically concerning mismatch repair status (MMR) and microsatellite instability (MSI). Summary and descriptive statistical analyses were carried out to evaluate the current practice of each laboratory.</p><p><strong>Results: </strong>The results show that MMR status is mainly evaluated by using immunohistochemistry (IHC) on most EC samples. The most frequent approach for the analysis of MMR status is IHC of four proteins (PMS2, MSH6, MSH2, MLH1). MSI analysis by molecular methods is uncommon but useful as a supplemental tool in specific conditions. MLH1 promoter hypermethylation and BRAF V600 mutations analysis are performed in case of negative expression of MLH1/PMS2. Other markers (mainly p53 followed by POLE and PTEN) are investigated in particular in Spain and Switzerland in a consistent number of cases.</p><p><strong>Conclusion: </strong>Guidelines consultation and standardization of laboratory procedures are efficient means for EC prognostic risk stratification and improving the quality of care.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 1","pages":"32-45"},"PeriodicalIF":3.5,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121003","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}