PATHOLOGICAPub Date : 2023-05-01DOI: 10.32074/1591-951X-824
Muna Al-Jabri, Suaad Al-Badi, Hunaina Al-Kindi, Mohammad Arafa
{"title":"Immunohistochemical expression of BCL-2 in hydatidiform moles: a tissue microarray study.","authors":"Muna Al-Jabri, Suaad Al-Badi, Hunaina Al-Kindi, Mohammad Arafa","doi":"10.32074/1591-951X-824","DOIUrl":"https://doi.org/10.32074/1591-951X-824","url":null,"abstract":"<p><strong>Background: </strong>Hydatidiform moles (HM) are members of gestational trophoblastic diseases (GTD) and, in some cases, might progress to gestational trophoblastic neoplasia (GTN). HMs are either partial (PHM) or complete (CHM). Some HMs are challenging in arriving at a precise histopathological diagnosis. This study aims to investigate the expression of BCL-2 by immunohistochemistry (IHC) in HMs as well as in normal trophoblastic tissues \"products of conception (POC) and placentas\" using Tissue MicroArray (TMA) technique.</p><p><strong>Methods: </strong>TMAs were constructed using the archival material of 237 HMs (95 PHM and 142 CHM) and 202 control normal trophoblastic tissues; POC and unremarkable placentas. Sections were immunohistochemically stained using antibodies against BCL-2. The staining was assessed semi-quantatively (intensity and percentage of the positive cells) in different cellular components (trophoblasts and stromal cells).</p><p><strong>Results: </strong>BCL-2 showed cytoplasmic expression in more than 95% of trophoblasts of PHM, CHM and controls. The staining showed a significant reduction of the intensity from controls (73.7%), PHMs (76.3%) to CHM (26.9%). There was a statistically significant difference between PHM and CHM in the intensity (p-value 0.0005) and the overall scores (p-value 0.0005), but not the percentage score (p-value > 0.05). No significant difference was observed in the positivity of the villous stromal cells between the different groups. All cellular components were visible using the TMA model of two spots/case (3 mm diameter, each) in more than 90% of cases.</p><p><strong>Conclusions: </strong>Decreased BCL-2 expression in CHM compared to PHM and normal trophoblasts indicates increased apoptosis and uncontrolled trophoblastic proliferation. Construction of TMA in duplicates using cores of 3 mm diameter can overcome tissue heterogeneity of complex lesions.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"1 1","pages":"148-154"},"PeriodicalIF":3.5,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c6/b7/pathol-2023-03-148.PMC10462987.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489927","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":"Placental site trophoblastic tumor (PSTT): a case report and review of the literature.","authors":"Claudia Zampacorta, Maria Paola Pasciuto, Benedetta Ferro, Alessandro Lucidi, Angel Sanchez Maestro, Inigo Espinosa, Emanuela D'Angelo, Jaime Prat","doi":"10.32074/1591-951X-873","DOIUrl":"https://doi.org/10.32074/1591-951X-873","url":null,"abstract":"<p><p>Placental site trophoblastic tumor (PSTT), also known as atypical choriocarcinoma, syncytioma, chorioepitheliosis or trophoblastic pseudotumor, is a rare gestational trophoblastic disease (0.25-5% of all trophoblastic tumors) and it is composed by neoplastic proliferation of intermediate trophoblasts at placental implantation site. It consists of aggregates or sheets of large, polyhedral to round, predominantly mononucleated cells with a characteristic vascular and myometrial invasion. Main differential diagnoses are gestational choriocarcinoma (GC) and epitelioid trophoblastic tumor (ETT). We present a case of PSTT in a 25-year-old woman. Neoplastic cells showed moderate/high nuclear pleomorphism, abundant amphophilic, eosinophilic and clear cytoplasm, numerous mitotic figures (10 mitoses/10 HPF), and myometrial invasion. Other features are necrosis, vascular invasion with replacement of myometrial vessels by tumor cells and hemorrhage. The patient showed typical low serum β-hCG levels and high serum humane placental lactogen (hPL) levels.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"111-116"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/85/40/pathol-2023-02-111.PMC10462996.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115599","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-848
Renato Lobrano, Alessandra Manca, Maria Cristina Sini, Giuseppe Palmieri, Marco Petrillo, Antonio Cossu, Panagiotis Paliogiannis
{"title":"Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing.","authors":"Renato Lobrano, Alessandra Manca, Maria Cristina Sini, Giuseppe Palmieri, Marco Petrillo, Antonio Cossu, Panagiotis Paliogiannis","doi":"10.32074/1591-951X-848","DOIUrl":"https://doi.org/10.32074/1591-951X-848","url":null,"abstract":"<p><p>Vulvar adenocarcinomas are rare tumors, representing approximately 5% of vulvar cancers. Mammary-like adenocarcinomas of the vulva (MLAV) are extremely rare, and their molecular features are poorly described in the scientific literature. We report a case of an 88-year-old woman affected by MLAV with comedo-like features, with a detailed description of the pathological, immunohistochemical and molecular features. Immunohistochemistry (IHC) showed strong staining for cytokeratin 7, GATA3, androgen receptor, GCFPD15, and weak staining for mammaglobin; no staining for Her-2 was found. The proliferation index (Ki-67) was 15%. Molecular testing detected a pathogenic mutation of the <i>AKT1</i> gene, a likely pathogenic frameshift insertion of the <i>JAK1</i> gene, and two likely pathogenic frameshift deletions of the <i>KMT2C</i> gene; in addition, two variants of unknown significance (VUS) involving the <i>ARID1A</i> and <i>OR2T4</i> genes were detected. Finally, two CNVs of the <i>BRCA1</i> gene were identified.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"101-106"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/55/ef/pathol-2023-02-101.PMC10462998.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10471330","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 practical approach for PD-L1 evaluation in gastroesophageal cancer.","authors":"Valentina Angerilli, Matteo Fassan, Paola Parente, Irene Gullo, Michela Campora, Chiara Rossi, Maria Luisa Sacramento, Gianmaria Pennelli, Alessandro Vanoli, Federica Grillo, Luca Mastracci","doi":"10.32074/1591-951X-836","DOIUrl":"https://doi.org/10.32074/1591-951X-836","url":null,"abstract":"<p><p>PD-L1 is an established predictive immunohistochemical biomarker of response to immune checkpoint inhibitors. At present, PD-L1 is routinely assessed on biopsy samples of advanced gastroesophageal cancer patients before initiating first-line treatment. However, PD-L1 is still a suboptimal biomarker, due to changing cut-off values and scoring systems, interobserver and interlaboratory variability.</p><p><p>This practical illustrated review discusses the range of staining patterns of PD-L1 and the potential pitfalls and challenges that can be encountered when evaluating PD-L1, focusing on gastric and gastroesophageal adenocarcinoma (G/GEA) and esophageal squamous cell carcinoma (ESCC).</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"57-70"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e1/47/pathol-2023-02-57.PMC10462995.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115039","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-837
Carlo Lazzaro, Giovanni Fattore, Massimo Barberis, Fiamma Buttitta, Paola Cassoni, Paolo Graziano, Antonio Marchetti, Stefania Crema, Francesca Dal Pero, Mauro Giulio Papotti
{"title":"Full cost of diagnostic pathology for lung carcinoma in Italy: results from four Pathology Units.","authors":"Carlo Lazzaro, Giovanni Fattore, Massimo Barberis, Fiamma Buttitta, Paola Cassoni, Paolo Graziano, Antonio Marchetti, Stefania Crema, Francesca Dal Pero, Mauro Giulio Papotti","doi":"10.32074/1591-951X-837","DOIUrl":"https://doi.org/10.32074/1591-951X-837","url":null,"abstract":"<p><strong>Objective: </strong>To calculate the full cost of diagnostic pathology tests for Non-Small Cell Lung Cancer (NSCLC) across four Italian Pathology Units.</p><p><strong>Methods: </strong>Pathology Units were located in private (2) and public (2) hospitals distributed across the Italian territory (North: 2; Centre: 1; South: 1). Pathologists provided via questionnaire data on tests on NSCLC samples along with the identification and quantification of the necessary healthcare resources (diagnostic technologies, laboratory instruments and personnel). Resources were valued according to hospital-specific unit, yearly and hourly costs (disposables; technologies; professional clusters).</p><p><strong>Results: </strong>The full cost per NSCLC tissue sample included histopathological immunophenotypic and required molecular analysis. Overall, it reached € 659.77 and it was mainly composed of direct costs (77.69%). The processing of a NSCLC tissue sample was labour intensive, as a relevant share of the full cost (44.98%) was actually due to personnel costs, with laboratory technicians, biologists and pathologist driving this finding (17.09%,12.43% and 10.81%, respectively).</p><p><strong>Conclusions: </strong>The results of this research can facilitate the negotiation of new dedicated tariffs for NSCLC sample processing with the national or local third party-payers.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"83-89"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6f/df/pathol-2023-02-83.PMC10463002.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115828","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-871
Fiamma Buttitta, Pietro Di Marino, Lara Felicioni, Francesca Chiara Primavera, Benedetta Ferro, Claudia Zampacorta, Maria Paola Pasciuto, Rebecca Rossetti, Marianna Tudini, Antonio Marchetti, Emanuela D'Angelo
{"title":"BRCA gene amplification in primary peritoneal high-grade serous carcinoma patient with intrinsic resistance to platinum treatment: a case report.","authors":"Fiamma Buttitta, Pietro Di Marino, Lara Felicioni, Francesca Chiara Primavera, Benedetta Ferro, Claudia Zampacorta, Maria Paola Pasciuto, Rebecca Rossetti, Marianna Tudini, Antonio Marchetti, Emanuela D'Angelo","doi":"10.32074/1591-951X-871","DOIUrl":"https://doi.org/10.32074/1591-951X-871","url":null,"abstract":"<p><p>Platinum-based chemotherapy is the standard chemotherapy for high grade serous ovarian cancer and primary peritoneal high-grade serous carcinoma. PARP inhibitors have changed the paradigm of the treatment in platinum-sensitive ovarian cancers and primary peritoneal high-grade serous carcinoma with BRCA1/2 mutation or homologous recombination deficiency (HRD). Platinum-resistant ovarian and primary peritoneal high-grade serous carcinoma have a lower chance to treat and have worse outcomes. We described a case of patient with a platinum resistant primary peritoneal high-grade serous carcinoma with a rare somatic BRCA2 amplification. There are no guidelines for the treatment of ovarian cancer or primary peritoneal high-grade serous carcinoma with BRCA2 amplification. BRCA2 amplification could result in extreme homologous recombination repair (HRR) pathway efficiency and in less platinum sensitivity, which could be a molecular signature for platinum resistance. Free platinum chemotherapy regimens could be more effective in cases with BRCA2 amplification. Further studies are necessary to establish better approaches and strategies for oncological management and treatment in BRCA2 amplification high grade ovarian cancer and primary peritoneal high-grade serous carcinoma.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"107-110"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7f/3b/pathol-2023-02-107.PMC10462999.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489434","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-859
Valentina Angerilli, Lorenzo Fornaro, Francesco Pepe, Silvia Maria Rossi, Giuseppe Perrone, Umberto Malapelle, Matteo Fassan
{"title":"<i>FGFR2</i> testing in cholangiocarcinoma: translating molecular studies into clinical practice.","authors":"Valentina Angerilli, Lorenzo Fornaro, Francesco Pepe, Silvia Maria Rossi, Giuseppe Perrone, Umberto Malapelle, Matteo Fassan","doi":"10.32074/1591-951X-859","DOIUrl":"https://doi.org/10.32074/1591-951X-859","url":null,"abstract":"<p><p>Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified numerous druggable genetic alterations, including <i>FGFR2</i> fusions/rearrangements. Approximately 5-7% of CCAs and 10-20% of intrahepatic iCCAs harbor <i>FGFR2</i> fusions. With the recent advent of FGFR-targeting therapies into clinical practice, a standardization of molecular testing for <i>FGFR2</i> alterations in CCA will be necessary. In this review, we describe the technical aspects and challenges related to <i>FGFR2</i> testing in routine practice, focusing on the comparison between Next-Generation Sequencing (NGS) and FISH assays, the best timing to perform the test, and on the role of liquid biopsy.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"71-82"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/0a/pathol-2023-02-71.PMC10462997.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10106818","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-784
Andrea Ascione, Giovanni Martino, Francesco Di Donato, Beatrice Casini, Renato Covello, Stefano Ascani
{"title":"CIC-rearranged sarcoma presenting with superior vena cava syndrome: case report.","authors":"Andrea Ascione, Giovanni Martino, Francesco Di Donato, Beatrice Casini, Renato Covello, Stefano Ascani","doi":"10.32074/1591-951X-784","DOIUrl":"https://doi.org/10.32074/1591-951X-784","url":null,"abstract":"<p><p>CIC-rearranged sarcomas are rare mesenchymal neoplasms belonging to the family of undifferentiated small round cell sarcomas. This report details the case of a 45-year-old man presenting with symptoms of mediastinal compression, radiological diagnosis of a mediastinal mass and rapid evolution to full-blown superior vena cava syndrome. The emergency was successfully managed with a pharmacological approach. Formulation of a pathological diagnosis of CIC-rearranged sarcoma was initially supported by fluorescence in situ hybridisation findings and later validated by next-generation sequencing, which showed CIC-DUX4 gene fusion. A chemotherapy regimen was started with immediate benefits for the patient. The spectrum of pathological entities able to cause superior vena cava syndrome is wide, and recognition of rare causes is important to tailor the therapeutic approach to the specific disease. This is, to the best of our knowledge, the first report of CIC-rearranged sarcoma presenting with superior vena cava syndrome.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"97-100"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8a/f2/pathol-2023-02-97.PMC10462994.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489436","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":"Preoperative endoscopy and pathology report of the specimen to be recommended in sleeve gastrectomy?","authors":"Remo Alessandris, Federico Moroso, Mauro Michelotto, Matteo Fassan, Valentina Angerilli, Linda Callegari, Mirto Foletto","doi":"10.32074/1591-951X-781","DOIUrl":"https://doi.org/10.32074/1591-951X-781","url":null,"abstract":"<p><strong>Objective: </strong>Preoperative upper gastrointestinal endoscopy (UGIE) and postoperative histopathological examination (HPE) of resected specimens are still controversial issues in bariatric surgery.</p><p><strong>Methods: </strong>A retrospective review of prospectively collected laparoscopic sleeve gastrectomies (SG) performed at our institution for morbid obesity was carried out. All patients underwent pre-operative UGIE with biopsy, post-operative HPE and conventional post-operative follow-up.</p><p><strong>Results: </strong>From January 2019 through January 2021 we performed a total of 501 laparoscopic SG. A total of 12 (2.4%) neoplasms were found, 2 evident at preoperative UGIE, 4 detected during operation, and 6 at HPE. Eight of these 12 cases had some malignant potential and 5 would not have been detected without HPE of the specimen. The most significant unexpected case was a fundic gland type adenocarcinoma in a 64-year-old female with severe obesity.</p><p><strong>Conclusion: </strong>On the basis of our clinical experience, we recommend both preoperative endoscopic assessment and postoperative HPE of the specimen to provide the best available treatment to these patients.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"90-96"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/41/pathol-2023-02-90.PMC10463000.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489408","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}
PATHOLOGICAPub Date : 2023-04-01DOI: 10.32074/1591-951X-844
Carlo Patriarca, Piergiorgio Modena, Maura Massimino, Fabio Gibilisco, Mattia Barbareschi, Andreas Conca
{"title":"Science and pseudo science: racist eugenics in Italy.","authors":"Carlo Patriarca, Piergiorgio Modena, Maura Massimino, Fabio Gibilisco, Mattia Barbareschi, Andreas Conca","doi":"10.32074/1591-951X-844","DOIUrl":"https://doi.org/10.32074/1591-951X-844","url":null,"abstract":"<p><p>In the present article we briefly discuss the historical premises of eugenics. Differences and some analogies between the Latin and the German way of eugenics in the 20th century are presented, until the tragic antisemitic turn. The fate of some children in the South Tyrol border region is also discussed, as well as the role of several anatomo-pathologists as willing executors of autopsies on the victims of the eugenic project of eliminating mentally and physically disabled people.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 2","pages":"117-125"},"PeriodicalIF":3.5,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5a/3c/pathol-2023-02-117.PMC10463001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10170272","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}