PATHOLOGICA最新文献

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Shortage of pathologists in Italy: survey of students and residents. 意大利病理学家短缺:对学生和居民的调查。
IF 3.5
PATHOLOGICA Pub Date : 2023-06-01 DOI: 10.32074/1591-951X-852
Giuseppe D'Abbronzo, Stefano Lucà, Emma Carraturo, Renato Franco, Andrea Ronchi
{"title":"Shortage of pathologists in Italy: survey of students and residents.","authors":"Giuseppe D'Abbronzo,&nbsp;Stefano Lucà,&nbsp;Emma Carraturo,&nbsp;Renato Franco,&nbsp;Andrea Ronchi","doi":"10.32074/1591-951X-852","DOIUrl":"https://doi.org/10.32074/1591-951X-852","url":null,"abstract":"<p><strong>Objective: </strong>In Italy, shortage of pathologists is a problem that affects the quality of the National Health System (NHS). The cause of the shortage of pathologists in Italy must be sought in the lack of interests in the pathologist career by Medical Course Students (MCS) and in drop out of Post-Graduate Medical Schools (PGMS). We investigated reasons of both through two surveys.</p><p><strong>Methods: </strong>We developed and proposed on Facebook two surveys, one to MCSs attending last years of study and one to Pathology School Residents (PSRs). Survey for MCSs consisted of 10 questions centered on their perception about pathologist activity; survey for PSRs consisted of 8 questions and investigated the most and least appreciated aspects of Italian PGMS.</p><p><strong>Results: </strong>We obtained 500 responses from the MCSs and 51 responses from the PSRs. Our results show that lack of interest of MCS may be due to their incomplete knowledge of the pathologist's activities. On the other hand, PSR answers show that some teaching aspects should be improved.</p><p><strong>Conclusions: </strong>Our surveys showed that lack of interest of MCS in the pathology career depends on poor knowledge about the real clinical significance of pathology and PSRs believe that Italian PGMS do not meet their interest. One solution could be a renewal of teaching both in the pathology courses for MCS and in PGMS.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 3","pages":"172-180"},"PeriodicalIF":3.5,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3f/2f/pathol-2023-03-172.PMC10462991.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10116139","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
SMARCA4 as a support for the differential diagnosis of poorly differentiated lung carcinomas. SMARCA4作为低分化肺癌鉴别诊断的支持。
IF 3.5
PATHOLOGICA Pub Date : 2023-06-01 DOI: 10.32074/1591-951X-847
Martina Panozzi, Greta Alì, Agnese Proietti, Franca Melfi, Carmelina C Zirafa, Marco Lucchi, Gabriella Fontanini
{"title":"SMARCA4 as a support for the differential diagnosis of poorly differentiated lung carcinomas.","authors":"Martina Panozzi,&nbsp;Greta Alì,&nbsp;Agnese Proietti,&nbsp;Franca Melfi,&nbsp;Carmelina C Zirafa,&nbsp;Marco Lucchi,&nbsp;Gabriella Fontanini","doi":"10.32074/1591-951X-847","DOIUrl":"https://doi.org/10.32074/1591-951X-847","url":null,"abstract":"<p><p>Among non-small cell lung cancers (NSCLCs), sarcomatoid carcinomas account for 3%. They are rare tumours with a poor prognosis, classified into three subgroups, namely pleomorphic carcinoma, pulmonary blastoma and carcinosarcoma. In the 5th edition of WHO Classification of Thoracic Tumours more space is given to SMARC4-deficient lung cancers. Although studies on SMARCA4-deficient lung tumours are limited, a small percentage of SMARCA4 loss is present within NSCLCs. This finding is clinically relevant, as the loss of the SMARCA4 gene is associated with a worse prognosis. In our study, we analysed the presence of the main catalytic subunit of the SMARCA4 gene, the BRG1 protein, in 60 sarcomatoid lung tumours. The results of our study show that 5.3% of sarcomatoid carcinomas have BRG1-loss in tumour cells, proving that a non-negligible amount of lung sarcomatoid carcinomas are SMARCA4-deficient. These data open the debate on the necessity of including the detection of SMARCA4 within a standardised immunohistochemical panel.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"115 3","pages":"164-171"},"PeriodicalIF":3.5,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/05/97/pathol-2023-03-164.PMC10462990.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10116134","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
POLE exonuclease domain mutations in endometrial carcinoma: a case report. 子宫内膜癌中POLE外切酶结构域突变1例报告。
IF 3.5
PATHOLOGICA Pub Date : 2023-05-01 DOI: 10.32074/1591-951X-872
Maria Paola Pasciuto, Lara Felicioni, Claudia Zampacorta, Benedetta Ferro, Pietro Di Marino, Francesca Chiara Primavera, Alessandro Lucidi, Rebecca Rossetti, Mattia Barbareschi, Antonio Marchetti, Fiamma Buttitta, Emanuela D'Angelo
{"title":"POLE exonuclease domain mutations in endometrial carcinoma: a case report.","authors":"Maria Paola Pasciuto,&nbsp;Lara Felicioni,&nbsp;Claudia Zampacorta,&nbsp;Benedetta Ferro,&nbsp;Pietro Di Marino,&nbsp;Francesca Chiara Primavera,&nbsp;Alessandro Lucidi,&nbsp;Rebecca Rossetti,&nbsp;Mattia Barbareschi,&nbsp;Antonio Marchetti,&nbsp;Fiamma Buttitta,&nbsp;Emanuela D'Angelo","doi":"10.32074/1591-951X-872","DOIUrl":"https://doi.org/10.32074/1591-951X-872","url":null,"abstract":"<p><p>Endometrial carcinoma (EC) harboring POLE exonuclease domain mutations occurs in 5-15% of ECs and frequently affects young women with low body mass index (BMI). It presents at early stage as high grade endometrioid histotype with intense tumor infiltrating lymphocytes and has good clinical outcomes and favorable prognosis. In this article we report the case of a 32-year-old woman with endometriod EC (EEC) exhibiting a \"ultramutated\" molecular profile and an excellent prognosis despite tumor size and grading. Herein, to highlight the importance of defining POLE status in ECs for both clinical and therapeutic implications for patients.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"1 1","pages":"181-185"},"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/e0/cf/pathol-2023-03-181.PMC10462992.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489926","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
Immunohistochemical expression of BCL-2 in hydatidiform moles: a tissue microarray study. 包体痣BCL-2的免疫组织化学表达:组织芯片研究。
IF 3.5
PATHOLOGICA Pub Date : 2023-05-01 DOI: 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,&nbsp;Suaad Al-Badi,&nbsp;Hunaina Al-Kindi,&nbsp;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}
引用次数: 0
Placental site trophoblastic tumor (PSTT): a case report and review of the literature. 胎盘部位滋养细胞瘤(PSTT): 1例报告及文献复习。
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 10.32074/1591-951X-873
Claudia Zampacorta, Maria Paola Pasciuto, Benedetta Ferro, Alessandro Lucidi, Angel Sanchez Maestro, Inigo Espinosa, Emanuela D'Angelo, Jaime Prat
{"title":"Placental site trophoblastic tumor (PSTT): a case report and review of the literature.","authors":"Claudia Zampacorta,&nbsp;Maria Paola Pasciuto,&nbsp;Benedetta Ferro,&nbsp;Alessandro Lucidi,&nbsp;Angel Sanchez Maestro,&nbsp;Inigo Espinosa,&nbsp;Emanuela D'Angelo,&nbsp;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}
引用次数: 1
Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing. 外阴乳腺样腺癌:一罕见病例报告与下一代测序。
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 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,&nbsp;Alessandra Manca,&nbsp;Maria Cristina Sini,&nbsp;Giuseppe Palmieri,&nbsp;Marco Petrillo,&nbsp;Antonio Cossu,&nbsp;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}
引用次数: 0
A practical approach for PD-L1 evaluation in gastroesophageal cancer. 胃食管癌PD-L1评价的实用方法。
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 10.32074/1591-951X-836
Valentina Angerilli, Matteo Fassan, Paola Parente, Irene Gullo, Michela Campora, Chiara Rossi, Maria Luisa Sacramento, Gianmaria Pennelli, Alessandro Vanoli, Federica Grillo, Luca Mastracci
{"title":"A practical approach for PD-L1 evaluation in gastroesophageal cancer.","authors":"Valentina Angerilli,&nbsp;Matteo Fassan,&nbsp;Paola Parente,&nbsp;Irene Gullo,&nbsp;Michela Campora,&nbsp;Chiara Rossi,&nbsp;Maria Luisa Sacramento,&nbsp;Gianmaria Pennelli,&nbsp;Alessandro Vanoli,&nbsp;Federica Grillo,&nbsp;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}
引用次数: 1
Full cost of diagnostic pathology for lung carcinoma in Italy: results from four Pathology Units. 意大利肺癌诊断病理的全部费用:来自四个病理单位的结果。
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 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,&nbsp;Giovanni Fattore,&nbsp;Massimo Barberis,&nbsp;Fiamma Buttitta,&nbsp;Paola Cassoni,&nbsp;Paolo Graziano,&nbsp;Antonio Marchetti,&nbsp;Stefania Crema,&nbsp;Francesca Dal Pero,&nbsp;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}
引用次数: 0
BRCA gene amplification in primary peritoneal high-grade serous carcinoma patient with intrinsic resistance to platinum treatment: a case report. BRCA基因扩增在原发性腹膜高级别浆液性癌患者内在耐铂治疗:1例报告。
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 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,&nbsp;Pietro Di Marino,&nbsp;Lara Felicioni,&nbsp;Francesca Chiara Primavera,&nbsp;Benedetta Ferro,&nbsp;Claudia Zampacorta,&nbsp;Maria Paola Pasciuto,&nbsp;Rebecca Rossetti,&nbsp;Marianna Tudini,&nbsp;Antonio Marchetti,&nbsp;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}
引用次数: 0
FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice. FGFR2在胆管癌中的检测:将分子研究转化为临床实践
IF 3.5
PATHOLOGICA Pub Date : 2023-04-01 DOI: 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,&nbsp;Lorenzo Fornaro,&nbsp;Francesco Pepe,&nbsp;Silvia Maria Rossi,&nbsp;Giuseppe Perrone,&nbsp;Umberto Malapelle,&nbsp;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}
引用次数: 0
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