Pathology & Oncology Research最新文献

筛选
英文 中文
Investigating the effect of immunomagnetic separation on the immunophenotype and viability of plasma cells in plasma cell disorders. 研究免疫磁分离对浆细胞疾病中浆细胞免疫表型和活力的影响。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611882
Ágnes Czeti, Soma Sashalmi, Ferenc Takács, Gábor Szalóki, Csilla Kriston, Gergely Varga, Péter Farkas, Aryan Hamed, Ágnes Márk, Gábor Barna
{"title":"Investigating the effect of immunomagnetic separation on the immunophenotype and viability of plasma cells in plasma cell disorders.","authors":"Ágnes Czeti, Soma Sashalmi, Ferenc Takács, Gábor Szalóki, Csilla Kriston, Gergely Varga, Péter Farkas, Aryan Hamed, Ágnes Márk, Gábor Barna","doi":"10.3389/pore.2024.1611882","DOIUrl":"10.3389/pore.2024.1611882","url":null,"abstract":"<p><p>Plasma cell enrichment plays a pivotal role in the accurate prognosis and molecular characterization of multiple myeloma. The separation is commonly carried out by positive cell selection using CD138 monoclonal antibody conjugated to magnetic beads. Optimally, during the separation procedure, the cells should neither be damaged, nor should their phenotype be significantly altered, as these changes would falsify the results if the isolated cells were subsequently used. For this reason, we investigated the expression patterns of different surface markers by flow cytometry before and after magnetic isolation using bone marrow or peripheral blood samples from 12 patients with plasma cell disorders. The selected markers are not only used as backbone markers in routine diagnostics (CD19, CD38, CD45, CD117, and CD138), but they also play an important role in cell adhesion and connection with microenvironment (CD44, CD49d, CD56, and CD81) or possibly drug resistance (CD69, CD86, and CD184), making them promising targets for myeloma research. Moreover, we examined the effects of separation on cell viability in 8 cases. The intensities of 8 out of the 12 investigated markers were slightly influenced, while CD138, CD38, CD56, and CD184 were changed significantly, however the immunophenotype of the cells was not changed. Positive markers remained positive and negative ones remained negative after the separation procedure. In addition, the number of apoptotic plasma cells was significantly reduced during separation, facilitating further examination of the cells. Our results showed that magnetic isolation can be considered as a reliable option but the immunophenotype of plasma cells should be validated after the separation if the intensities of the markers are important for further experiments.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic role of lymph node regression in patients with esophageal cancer undergoing neoadjuvant therapy. 接受新辅助治疗的食管癌患者淋巴结消退的预后作用。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611844
Pingrun Chen, Maojia Chen, Yijie Bu, Guowei Che, Chao Cheng, Yan Wang
{"title":"Prognostic role of lymph node regression in patients with esophageal cancer undergoing neoadjuvant therapy.","authors":"Pingrun Chen, Maojia Chen, Yijie Bu, Guowei Che, Chao Cheng, Yan Wang","doi":"10.3389/pore.2024.1611844","DOIUrl":"10.3389/pore.2024.1611844","url":null,"abstract":"<p><strong>Purpose: </strong>To clarify the prognostic value of lymph node regression (LNR) status including the lymph node regression grade (LNRG) and N downstaging in patients with esophageal cancer receiving neoadjuvant therapy based on available evidence.</p><p><strong>Methods: </strong>Several databases were searched up to 25 March 2024. The main outcomes included overall survival (OS), disease-free survival (DFS) and cancer-specific survival (CSS). Hazard ratios (HRs) and 95% confidence intervals (CIs) were combined. Subgroup analyses based on the neoadjuvant therapy and pathological type were also conducted.</p><p><strong>Results: </strong>In total, 14 retrospective studies with 3,212 participants were included. Nine and five studies explored the relationship between LNRG and N downstaging and survival, respectively. Pooled results indicated that complete LNR predicted significantly improved OS (HR = 0.47, 95% CI: 0.41-0.55, P < 0.001) and DFS (HR = 0.42, 95% CI: 0.32-0.55, P < 0.001) and subgroup analysis based on neoadjuvant therapy and pathological type manifested similar results. Besides, N downstaging was also significantly related to improved OS (HR = 0.40, 95% CI: 0.21-0.77, P = 0.006) and CSS (HR = 0.27, 95% CI: 0.12-0.60, P < 0.001).</p><p><strong>Conclusion: </strong>LNR could serve as a novel and reliable prognostic factor in patients with esophageal cancer receiving neoadjuvant therapy and complete LNR and N downstaging predict better survival.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic performance of intracystic carcinoembryonic antigen (CEA) versus glucose in differentiation of mucinous and non-mucinous pancreatic cysts. 囊内癌胚抗原 (CEA) 与葡萄糖在区分粘液性和非粘液性胰腺囊肿方面的诊断性能。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-10-10 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611881
György Gyimesi, Bánk Keczer, Péter Rein, Miklós Horváth, Ákos Szűcs, Tamás Marjai, Attila Szijártó, István Hritz
{"title":"Diagnostic performance of intracystic carcinoembryonic antigen (CEA) versus glucose in differentiation of mucinous and non-mucinous pancreatic cysts.","authors":"György Gyimesi, Bánk Keczer, Péter Rein, Miklós Horváth, Ákos Szűcs, Tamás Marjai, Attila Szijártó, István Hritz","doi":"10.3389/pore.2024.1611881","DOIUrl":"10.3389/pore.2024.1611881","url":null,"abstract":"<p><strong>Background and objectives: </strong>Pancreatic cysts have various potential for malignant transformation. Differentiating mucinous from non-mucinous cysts is crucial to make the right decision about further management, since mucinous cysts carry the risk of malignancy. Using endoscopic ultrasound (EUS) guided fine needle aspiration to determine intracystic carcinoembryonic antigen (CEA) levels is the recommended method for identifying mucinous cysts, although intracystic glucose assessment has also proved to be an effective tool. This study aims to compare the diagnostic performance of intracystic glucose and CEA in distinguishing between mucinous and non-mucinous pancreatic cystic lesions.</p><p><strong>Methods: </strong>In this single center study, we prospectively collected and analyzed the data of 91 consecutive patients who underwent endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) with cytological analysis and measurement of intracystic CEA and glucose levels. The cyst type was classified based on radiological and EUS morphology, string sign, CEA, cytological and histological findings in resected cases. The diagnosis was established retrospectively by three experienced gastroenterologists blinded for glucose level in cases without definitive cytology or histology. We calculated the sensitivity, specificity, the positive- and negative predictive value of glucose and CEA respectively, and compared the two methods.</p><p><strong>Results: </strong>The sensitivity of intracystic glucose versus CEA proved to be 96.2% vs. 69.2% in identifying mucinous cysts, while the specificity of glucose was shown to be 79.5%, compared to 100% for CEA.</p><p><strong>Conclusion: </strong>Intracystic glucose is a sensitive, easily accessible biomarker in identifying mucinous pancreatic cysts, however, the specificity is lower compared to CEA. The measurement of intracystic glucose level could help in decision-making in daily clinical practice, however the diagnostic performance of the method remains inferior to \"through-the-needle\" techniques, such as confocal laser endomicroscopy and Moray forceps biopsy.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11499142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia. 病例报告:通过全面的临床、病理和遗传学调查,破解周期性血小板减少症的背景。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-09-30 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611914
Zsófia Flóra Nagy, Kristóf Árvai, Péter Lakatos, Ildikó Beke Debreceni, Balázs Szili, Ildikó Istenes, Csaba Bödör, Judit Demeter
{"title":"Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia.","authors":"Zsófia Flóra Nagy, Kristóf Árvai, Péter Lakatos, Ildikó Beke Debreceni, Balázs Szili, Ildikó Istenes, Csaba Bödör, Judit Demeter","doi":"10.3389/pore.2024.1611914","DOIUrl":"https://doi.org/10.3389/pore.2024.1611914","url":null,"abstract":"<p><p>Cyclic thrombocytopenia (CTP) is a rare disease characterized by the oscillations seen in the platelet count of the patients. The pathomechanism of the disease is poorly understood, several pathological processes have been implied in the background of CTP. In our current study, we aimed to thoroughly investigate the case of a 41-year-old female patient with a 22-year history of CTP. Wide-ranging laboratory testing, histological analyses and genetic investigations were carried out to investigate all the defects and alterations of physiological pathways described in the background of CTP to date. Bone marrow biopsy showed normal hemopoiesis with the abundance of megakaryocytes, some of which displayed hypolobulated nuclei. T-cell receptor rearrangement studies showed a polyclonal pattern with no indication of a monoclonal cell population. Flow cytometric assessment of the platelets revealed large number of immature platelets and decreased expression of glycoprotein IIb and IIIa at platelet zenith. Increased expression of glycoprotein IIb, IIIa and glycoprotein Ib-IX complex was observed at the nadir of the cycle. Whole exome sequencing revealed a heterozygous missense variant of uncertain significance in the SERPINC1 gene, which has been associated with hereditary antithrombin deficiency. The screening of autoantibodies did not reveal signs of autoreactive processes, and no thyroid dysfunction was found. Furthermore, synchronization with the menstrual cycle could not be concluded based on our patient's case. With our results we contribute to the very limited data known about the long-term course of the disease and provide valuable insights into the genetic architecture of CTP.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11471597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher Nodal expression is often associated with poorer survival in patients diagnosed with melanoma and treated with anti-PD1 therapy. 在确诊为黑色素瘤并接受抗 PD1 治疗的患者中,较高的 Nodal 表达通常与较差的生存率有关。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-09-23 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611889
Philippe D Gascard, Xianhong Wang, Mehdi Nosrati, Kevin B Kim, Mohammed Kashani-Sabet, Thea D Tlsty, Stanley P Leong, Mary J C Hendrix
{"title":"Higher Nodal expression is often associated with poorer survival in patients diagnosed with melanoma and treated with anti-PD1 therapy.","authors":"Philippe D Gascard, Xianhong Wang, Mehdi Nosrati, Kevin B Kim, Mohammed Kashani-Sabet, Thea D Tlsty, Stanley P Leong, Mary J C Hendrix","doi":"10.3389/pore.2024.1611889","DOIUrl":"https://doi.org/10.3389/pore.2024.1611889","url":null,"abstract":"<p><p>Advanced melanoma is considered the most aggressive and deadly form of skin cancer whose incidence has been rising over the past three decades. In the absence of treatment, the median overall survival for advanced-stage metastatic disease is less than 6 months. Although most melanomas detected at an early stage can be cured with surgery, a subset of these eventually metastasize. Therefore, a critical need exists to identify unique molecular features that would be predictive of long-term outcome and response to specific therapies. Recent promising therapeutic regimens have included the use of immune checkpoint inhibitors, such as anti-PD1 antibodies. However, the ability to identify responders and non-responders to this therapy remains elusive. To address this challenge at the molecular level, previously our laboratory identified the emergence of a stem cell phenotype associated with advanced melanoma and other aggressive forms of cancer. Underlying this phenotype is the aberrant re-expression of the embryonic morphogen \"Nodal\". Particularly noteworthy, we have observed Nodal to remain in advanced tumors of non-responders to standard-of-care therapies (i.e., BRAFi). This pilot study is the first proof-of-principle attempt to predict treatment response survival outcome in a small cohort of melanoma patients receiving anti-PD1 immune checkpoint inhibitor therapy - based on their Nodal expression profile. Using advanced multiplex immunohistochemistry-based digital pathology, the major finding of this preliminary study indicates that higher Nodal expression is often associated with poorer overall survival after anti-PD1 therapy, reaching nearly statistical relevance.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11456440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular classification of endometrial cancer: preliminary experience from a single Portuguese academic center. 子宫内膜癌的分子分类:葡萄牙一家学术中心的初步经验。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-08-16 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611835
João Casanova, Ana G da Costa, Ana Pestana Lopes, Ana Catarino, Mónica Nave, Ana Carla Sousa, Jorge Lima
{"title":"Molecular classification of endometrial cancer: preliminary experience from a single Portuguese academic center.","authors":"João Casanova, Ana G da Costa, Ana Pestana Lopes, Ana Catarino, Mónica Nave, Ana Carla Sousa, Jorge Lima","doi":"10.3389/pore.2024.1611835","DOIUrl":"10.3389/pore.2024.1611835","url":null,"abstract":"<p><strong>Background: </strong>Since the seminal publication of the TCGA consortium in 2013, the molecular classification of endometrial cancer has been widely accepted as a new and powerful tool to better understand the natural history of this malignancy. Adoption of routine molecular classification around the world has been limited. We sought to demonstrate our initial experience in incorporating the four molecular subtypes for endometrioid carcinomas.</p><p><strong>Methods: </strong>This was a retrospective analysis at a single center in Portugal. Molecular classification was determined using immunohistochemical staining for MMR and p53 and <i>Sanger Sequencing</i> to determine <i>POLE</i> mutation status as per published PROMISE method. Descriptive statistics were reported.</p><p><strong>Results: </strong>20 patients with endometrioid histology were included. Median age of the cohort was 64 years (range 45-76). Median Body Mass Index (kg/m<sup>2</sup>) was 29.81 (range 21.3-43.1). In terms of tumor grading, 16 (80%) of the endometrial carcinomas of the cohort were low-grade (either grade 1 or grade 2). 16 (80%) of the cases were FIGO stage I. Regarding the molecular classification the tumors were classified as: MMRd [n = 6 (30%)]; p53 abn [n = 2 (10%)]; NSMP (n = 10 (50%)), <i>POLE</i> ultramut [n = 2 (10%)].</p><p><strong>Conclusion: </strong>Despite the small sample size, we were able to show that molecular classification is feasible. To our knowledge this is the first cohort of endometroid endometrial carcinomas fully characterized according to the TCGA classification in Portugal, from one single center.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11362007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intraoperative pyloric drainage is unnecessary during esophagectomies: a meta-analysis and systematic review of randomized controlled trials. 食管切除术中无需进行术中幽门引流:随机对照试验的荟萃分析和系统回顾。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611823
Armand Csontos, Dávid Németh, Lajos Szakó, Gergő Berke, Dóra Lili Sindler, Dávid Berki, Csenge Papp, Péter Hegyi, András Vereczkei, András Papp
{"title":"Intraoperative pyloric drainage is unnecessary during esophagectomies: a meta-analysis and systematic review of randomized controlled trials.","authors":"Armand Csontos, Dávid Németh, Lajos Szakó, Gergő Berke, Dóra Lili Sindler, Dávid Berki, Csenge Papp, Péter Hegyi, András Vereczkei, András Papp","doi":"10.3389/pore.2024.1611823","DOIUrl":"10.3389/pore.2024.1611823","url":null,"abstract":"<p><p><b>Objective:</b> The topic of this meta-analysis is the comparison of gastric conduit esophageal reconstructions with or without pyloroplasty. <b>Background:</b> Surgical procedures, especially minimal invasive esophagectomy (MIE) can be a curative treatment in the early stages of esophageal cancer. Previously, intraoperative pyloroplasty was routinely performed, but nowadays it became debated again in the light of minimally invasive esophagectomy. <b>Methods:</b> A comprehensive search was performed in multiple databases to identify randomized controlled trials investigating the topic. Two independent authors performed the selection based on predefined criteria. Statistical analysis was performed to assess any significant difference, then the bias and quality of the data were estimated. <b>Results:</b> Nine relevant RCTs consisting of 529 patients with esophageal cancer were identified. No significance was found in mortality [odds ratio (OR): 0.85; <i>p</i> = 0.642], anastomosis leakage (OR: 0.57; <i>p</i> = 0.254), respiratory morbidity (OR: 0.51; <i>p</i> = 0.214) and vomiting (OR: 0.74; <i>p</i> = 0.520), however the results about gastric emptying time (GET) were controversial (weighted mean difference (WMD): -67.71; <i>p</i> = 0.009, OR: 2.75; <i>p</i> = 0.072). Significant heterogeneity was not detected except for GET. Trial sequential analyses (TSA) show that a certain conclusion would require more data except in the binary variables of GET. <b>Conclusion:</b> We conclude that the pyloric drainage procedure is not routinely necessary, but further well-designed studies would be needed, especially in Europe.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11333203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case report: A mesenchymal chondrosarcoma with alternative HEY1::NCOA2 fusions in the sella turcica. 病例报告:一种间充质软骨肉瘤,椎间盘中存在替代性 HEY1::NCOA2 融合。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611730
Satsuki Kishikawa, Akihide Kondo, Takashi Yao, Tsuyoshi Saito
{"title":"Case report: A mesenchymal chondrosarcoma with alternative <i>HEY1::NCOA2</i> fusions in the sella turcica.","authors":"Satsuki Kishikawa, Akihide Kondo, Takashi Yao, Tsuyoshi Saito","doi":"10.3389/pore.2024.1611730","DOIUrl":"10.3389/pore.2024.1611730","url":null,"abstract":"<p><strong>Introduction: </strong>Mesenchymal chondrosarcoma (MCS) is a rare subtype of chondrosarcoma that occurs at widespread anatomical locations, such as bone, soft tissue, and intracranial sites. The central nervous system (CNS) is one of the most common origins of extraosseous MCS. However, alternative <i>HEY1::NCOA2</i> fusions have not been reported in this tumor.</p><p><strong>Case report: </strong>We report a case of intracranial MCS with <i>HEY1::NCOA2</i> rearrangement. A 52-year-old woman presented with a 15-mm calcified mass around the sella turcica. She initially underwent transsphenoidal surgery for tumor resection and then additional resections for five local recurrences over 5 years. Histologically, the tumor was composed of small round to spindle-shaped cells admixed with well-differentiated hyaline cartilaginous islands. A hemangiopericytoma-like vascular pattern and small sinusoid-like vessels were also observed. RNA sequencing using RNA extracted from formalin-fixed paraffin-embedded samples from the last operation revealed two alternative variants of the <i>HEY1::NCOA2</i> fusion: <i>HEY1</i>(ex4)::<i>NCOA2</i> (ex13) and <i>HEY1</i>(ex4)::<i>NCOA2</i>(ex14). Both variants were confirmed as in-frame fusions using reverse transcription-polymerase chain reaction.</p><p><strong>Discussion: </strong>Cartilaginous components were often not apparent during the recurrences. In addition to the non-typical pathological finding, the correct diagnosis was hampered by the poor RNA quality of the surgical specimens and non-specific STAT6 nuclear staining.</p><p><strong>Conclusion: </strong>This is the first reported case of intracranial MCS with an alternative <i>HEY1::NCOA2</i> fusion.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11333213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods. 南外兴安岭地区遗传性乳腺癌和卵巢癌患者的分子遗传学调查:利用下一代方法拓宽突变谱并寻找新的致病变体。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-08-01 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611813
László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev
{"title":"Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.","authors":"László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev","doi":"10.3389/pore.2024.1611813","DOIUrl":"10.3389/pore.2024.1611813","url":null,"abstract":"<p><p>Hereditary breast and ovarian cancer is a well-known genetic condition, inherited mainly in an autosomal dominant way, which elevates the risk of developing malignancies at a young age in heterozygous carriers. Advances in new generation sequencing have enabled medical professionals to determine whether a patient is harbouring mutations in moderate- or high penetrance susceptibility genes. We conducted a retrospective analysis among 275 patients who underwent genetic counselling and multigene panel testing for hereditary breast and ovarian cancer syndrome in our department. From these patients 74.5% (205/275) were affected by some type of malignancy, while the remaining 25.5% (70/275) had a positive family history of different cancers, suggesting a genetic predisposition. These tests confirmed a genetic variant in 29.8% and 28.6% of these patient groups respectively. The results also mirrored our general knowledge concerning the genetic background of hereditary breast and ovarian cancer, as variants in either one of the <i>BRCA1</i> and <i>BRCA2</i> genes proved to be the most common cause among our patients with 41.5%. Our test also detected a novel mutation in the <i>CDH1</i> gene and three patients with double heterozygosity in two different susceptibility genes. This study demonstrates the relevance of genetic counselling and non-<i>BRCA</i> gene sequencing among cancer patients and patients who fulfil the criteria for genetic testing, while also providing important details about the genetic profile of Hungarian patients.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11324426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum: Association between pathological characteristics and recurrence score by OncotypeDX in resected T1-3 and N0-1 breast cancer: a real-life experience of a North Hungarian regional center. 更正:切除的 T1-3 和 N0-1 乳腺癌病理特征与 OncotypeDX 复发评分之间的关系:北匈牙利地区中心的实际经验。
IF 2.3 4区 医学
Pathology & Oncology Research Pub Date : 2024-07-08 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611862
Dániel Deme, Bálint Ferenc Tamaskovics, Nizar Jammoul, Sándor Kovács, Kmmanuel Oladunjoye Kayode, James W Grice, András Telekes
{"title":"Corrigendum: Association between pathological characteristics and recurrence score by OncotypeDX in resected T1-3 and N0-1 breast cancer: a real-life experience of a North Hungarian regional center.","authors":"Dániel Deme, Bálint Ferenc Tamaskovics, Nizar Jammoul, Sándor Kovács, Kmmanuel Oladunjoye Kayode, James W Grice, András Telekes","doi":"10.3389/pore.2024.1611862","DOIUrl":"https://doi.org/10.3389/pore.2024.1611862","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/pore.2024.1611735.].</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11260606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信