Pathobiology最新文献

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Reconceiving Perineural Invasion in Cutaneous Squamous Cell Carcinoma: From Biological to Histopathological Assessment. 重新认识皮肤鳞状细胞癌的神经周围侵犯:从生物学评估到组织病理学评估。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-07-24 DOI: 10.1159/000539484
Filippo Nozzoli, Romina Nassini, Francesco De Logu, Martina Catalano, Giandomenico Roviello, Daniela Massi
{"title":"Reconceiving Perineural Invasion in Cutaneous Squamous Cell Carcinoma: From Biological to Histopathological Assessment.","authors":"Filippo Nozzoli, Romina Nassini, Francesco De Logu, Martina Catalano, Giandomenico Roviello, Daniela Massi","doi":"10.1159/000539484","DOIUrl":"10.1159/000539484","url":null,"abstract":"<p><strong>Background: </strong>Perineural invasion (PNI) is a complex molecular process histologically represented by the presence of tumor cells within the peripheral nerve sheath and defined when infiltration into the 3 nerve sheath layers can be clearly identified. Several molecular pathways have been implicated in cSCC. PNI is a well-recognized risk factor in cutaneous squamous cell carcinoma (cSCC) and its accurate assessment represents a challenging field in pathology daily practice.</p><p><strong>Summary: </strong>As a highly intricate and dynamic process, PNI involves a contingent on bidirectional signaling interactions between the tumor and various nerve components, such as Schwann cells and neurons. The current staging systems recommend the identification of PNI as a dichotomous variable (presence vs. absence) to identify a subgroup of high-risk patients. However, recent further insights revealed that the evaluation of morphological PNI-related features in cSCC may enhance the prognostic stratification of patients and may optimize the current staging guidelines for recurrence risk assessment and improvement of patient selection for postoperative adjuvant treatments. Furthermore, recent emerging biomarkers could redefine early PNI detection.</p><p><strong>Key messages: </strong>This review provides updated insights into cSCC with PNI, focusing on molecular and cellular pathogenic processes, and aims to increase knowledge on prognostic relevant PNI-related histological features.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-13"},"PeriodicalIF":3.5,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141760282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic Value of Cancer-Associated Fibroblast Marker Expression in the Intratumoral and Marginal Areas of Soft Tissue Sarcoma. 软组织肉瘤瘤内和边缘区域 CAF 标记表达的预后价值。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-07-22 DOI: 10.1159/000539855
Michinobu Umakoshi, Yukitsugu Kudo-Asabe, Hiroyuki Tsuchie, Zhuo Li, Kei Koyama, Ken Miyabe, Makoto Yoshida, Hiroyuki Nagasawa, Hiroshi Nanjo, Kyoji Okada, Daichi Maeda, Naohisa Miyakoshi, Masamitsu Tanaka, Akiteru Goto
{"title":"Prognostic Value of Cancer-Associated Fibroblast Marker Expression in the Intratumoral and Marginal Areas of Soft Tissue Sarcoma.","authors":"Michinobu Umakoshi, Yukitsugu Kudo-Asabe, Hiroyuki Tsuchie, Zhuo Li, Kei Koyama, Ken Miyabe, Makoto Yoshida, Hiroyuki Nagasawa, Hiroshi Nanjo, Kyoji Okada, Daichi Maeda, Naohisa Miyakoshi, Masamitsu Tanaka, Akiteru Goto","doi":"10.1159/000539855","DOIUrl":"10.1159/000539855","url":null,"abstract":"<p><strong>Introduction: </strong>The tumor microenvironment of sarcomas has not been studied in detail; in particular, little is known about cancer-associated fibroblasts (CAFs). Sarcoma cells are difficult to distinguish from CAFs, either histomorphologically or immunohistochemically.</p><p><strong>Methods: </strong>We scored the expression of individual CAF markers (fibroblast-activating protein [FAP], CD10, and podoplanin) in the intratumoral and marginal areas of 133 sarcomas. We also examined the association between these markers, as well as the number of CD163-positive macrophages (i.e., tumor-associated macrophages), and clinical outcome.</p><p><strong>Results: </strong>In all cases, the log-rank test revealed that those with high marker scores and macrophage counts (except for marginal CD10+ CAFs) showed significantly worse disease-free survival (DFS). Grade 2/3 cases with high CAF scores (excluding the marginal FAP and CD10 scores) showed significantly worse DFS, whereas those with high intratumoral FAP/CD10 and marginal podoplanin scores showed significantly worse metastasis-free survival (MFS), and those with high intratumoral CD10 score showed significantly worse local recurrence-free survival (LFS). Multivariate analysis identified intratumoral CD10/podoplanin scores and marginal FAP/podoplanin scores as independent prognostic factors for DFS, intratumoral FAP/CD10 and marginal FAP/podoplanin/CD163-positive macrophage scores as independent prognostic factors for MFS, and the intratumoral podoplanin score as an independent prognostic factor for LFS. There was a weak-to-moderate correlation between each score and CD163-positive macrophage counts.</p><p><strong>Conclusion: </strong>Patients with high CAF marker expression in the intratumoral and marginal areas have a poorer outcome.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-17"},"PeriodicalIF":3.5,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low-Grade Adenosquamous Carcinoma of the Breast Masquerading as a Fibroepithelial Lesion on Core Biopsy: A Challenging Case. 在核心活检中伪装成纤维上皮病变的低级别乳腺腺鳞癌:一个棘手的病例。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-07-17 DOI: 10.1159/000540029
Natthawadee Laokulrath, Esther Chuwa, Mihir Gudi, Puay Hoon Tan
{"title":"Low-Grade Adenosquamous Carcinoma of the Breast Masquerading as a Fibroepithelial Lesion on Core Biopsy: A Challenging Case.","authors":"Natthawadee Laokulrath, Esther Chuwa, Mihir Gudi, Puay Hoon Tan","doi":"10.1159/000540029","DOIUrl":"10.1159/000540029","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnosing low-grade adenosquamous carcinoma (LGASC) presents significant challenges due to its subtle morphology, variable immunohistochemical expression, and resemblance to benign lesions like radial scar and complex sclerosing lesions.</p><p><strong>Case presentation: </strong>We present a case of a 53-year-old woman with a subareolar mass initially thought to be a fibroepithelial neoplasm on core biopsy. Subsequent wide excision revealed LGASC with oestrogen receptor expression (weak to moderate intensity, 40% of tumour cells).</p><p><strong>Conclusion: </strong>These findings, rarely reported, highlight the difficulty of diagnosing LGASC on small tissue samples.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-8"},"PeriodicalIF":3.5,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tumor-Intrinsic Perinuclear LOXL2: Prognostic Relevance and Relationship with YAP1 Activation Status in Oral Squamous Cell Carcinoma. 肿瘤内核周LOXL2:口腔鳞状细胞癌的预后相关性及其与 YAP1 激活状态的关系
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-06-27 DOI: 10.1159/000539928
Juan P Rodrigo, Gema Moreno-Bueno, Paloma Lequerica-Fernández, Tania Rodríguez-Santamarta, Eva Díaz, Llara Prieto-Fernández, Saúl Álvarez-Teijeiro, Juana M García-Pedrero, Juan Carlos de Vicente
{"title":"Tumor-Intrinsic Perinuclear LOXL2: Prognostic Relevance and Relationship with YAP1 Activation Status in Oral Squamous Cell Carcinoma.","authors":"Juan P Rodrigo, Gema Moreno-Bueno, Paloma Lequerica-Fernández, Tania Rodríguez-Santamarta, Eva Díaz, Llara Prieto-Fernández, Saúl Álvarez-Teijeiro, Juana M García-Pedrero, Juan Carlos de Vicente","doi":"10.1159/000539928","DOIUrl":"10.1159/000539928","url":null,"abstract":"<p><strong>Introduction: </strong>Lysyl oxidase-like 2 (LOXL2) expression and function is frequently altered in different cancers but scarcely explored in oral squamous cell carcinoma (OSCC). This prompted us to investigate the clinical relevance of LOXL2 expression pattern in OSCC and also a possible crosstalk with Hippo/YAP1 pathway signaling.</p><p><strong>Methods: </strong>Immunohistochemical analysis of LOXL2 protein expression was performed in 158 OSCC patient samples, together with Yes-associated protein 1 (YAP1) activation status. Correlations with clinicopathological parameters and patient survival were assessed.</p><p><strong>Results: </strong>Tumor cell-intrinsic LOXL2 expression showed two distinct expression patterns: diffuse cytoplasmic staining (64.6%) and heterogeneous perinuclear staining (35.4%). Remarkably, perinuclear LOXL2 staining was significantly associated with lymph node metastasis, advanced clinical stage and perineural invasion. Moreover, patients harboring tumors with perinuclear LOXL2 expression exhibited significantly poorer disease-specific survival (DSS) rates, and perinuclear LOXL2 positivity gradually increased in relation to YAP1 activation. Patients harboring tumors with concomitant perinuclear LOXL2 and fully active YAP1 exhibited the worst DSS. Multivariate Cox analysis further revealed combined perinuclear LOXL2 and fully active YAP1 as a significant independent predictor of poor DSS.</p><p><strong>Conclusion: </strong>Tumor-intrinsic perinuclear LOXL2 emerges as a clinically and biologically relevant feature associated with advanced disease, tumor aggressiveness, and poor prognosis in OSCC. Moreover, this study unprecedentedly uncovers a functional relationship between perinuclear LOXL2 and YAP1 activation with major prognostic implications. Notably, combined perinuclear LOXL2 and fully active YAP1 was revealed as independent predictor of poor prognosis. These findings encourage targeting oncogenic LOXL2 functions for personalized treatment regimens.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-12"},"PeriodicalIF":3.5,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multiplex Intraoperative Rapid Immunohistochemistry with Noncontact Antibody Mixing for Distinguishing the Histologic Phenotype of Lung Cancer. 利用非接触式抗体混合技术进行多重术中快速免疫组化,以区分肺癌的组织学表型。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-06-24 DOI: 10.1159/000539640
Shoji Kuriyama, Kazuhiro Imai, Hiroshi Nanjo, Yuki Wakamatsu, Shinogu Takashima, Tsubasa Matsuo, Hidenobu Iwai, Ryo Demura, Haruka Suzuki, Yuzu Harata, Sumire Shibano, Akiyuki Wakita, Yusuke Sato, Kyoko Nomura, Yoshihiro Minamiya
{"title":"Multiplex Intraoperative Rapid Immunohistochemistry with Noncontact Antibody Mixing for Distinguishing the Histologic Phenotype of Lung Cancer.","authors":"Shoji Kuriyama, Kazuhiro Imai, Hiroshi Nanjo, Yuki Wakamatsu, Shinogu Takashima, Tsubasa Matsuo, Hidenobu Iwai, Ryo Demura, Haruka Suzuki, Yuzu Harata, Sumire Shibano, Akiyuki Wakita, Yusuke Sato, Kyoko Nomura, Yoshihiro Minamiya","doi":"10.1159/000539640","DOIUrl":"10.1159/000539640","url":null,"abstract":"<p><strong>Introduction: </strong>Determining a surgical strategy for early-stage lung cancer requires an accurate histologic diagnosis. Immunohistochemistry (IHC) enables reliable diagnosis of histological types but requires more time and more tumor tissue slides than hematoxylin and eosin staining. We aimed to assess the clinical validity of a new rapid multiplex IHC technique utilizing alternating current (AC) mixing for intraoperative lung cancer diagnosis.</p><p><strong>Methods: </strong>Forty-three patients who underwent radical resection of lung cancers were enrolled in a retrospective observational study. Frozen sections were prepared from lung tumor samples, and rapid IHC employing AC mixing was implemented alongside a multiplex IHC protocol targeting thyroid transcription factor-1 + cytokeratin 5, desmoglein 3 + Napsin A, and p63 + tripartite motif containing 29. We then evaluated the concordance between intraoperative diagnoses derived from rapid multiplex IHC and final pathology.</p><p><strong>Results: </strong>The concordance rate between the pathological diagnosis made with added rapid multiplex IHC and the final pathology was 93.0% (Cohen's 𝜅 coefficient = 0.860 and 95% CI: 0.727-0.993). When considering only adenocarcinoma and squamous cell carcinoma, the diagnoses were in agreement for all cases.</p><p><strong>Conclusions: </strong>We suggest rapid multiplex IHC as a promising tool for determining surgical strategies for lung tumors.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-10"},"PeriodicalIF":3.5,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ATF4 as a Prognostic Marker and Modulator of Glutamine Metabolism in Oestrogen Receptor-Positive Breast Cancer. ATF4 作为雌激素受体阳性乳腺癌的预后标志和谷氨酰胺代谢调节剂
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-06-11 DOI: 10.1159/000539564
Roshni Patel, Lutfi H Alfarsi, Rokaya El-Ansari, Brendah K Masisi, Busra Erkan, Ali Fakroun, Ian O Ellis, Emad A Rakha, Andrew R Green
{"title":"ATF4 as a Prognostic Marker and Modulator of Glutamine Metabolism in Oestrogen Receptor-Positive Breast Cancer.","authors":"Roshni Patel, Lutfi H Alfarsi, Rokaya El-Ansari, Brendah K Masisi, Busra Erkan, Ali Fakroun, Ian O Ellis, Emad A Rakha, Andrew R Green","doi":"10.1159/000539564","DOIUrl":"10.1159/000539564","url":null,"abstract":"<p><strong>Introduction: </strong>ATF4, a stress-responsive transcription factor that upregulates adaptive genes, is a potential prognostic marker and modulator of glutamine metabolism in breast cancer. However, its exact role remains to be elucidated.</p><p><strong>Methods: </strong>ATF4 expression was evaluated at genomic and transcriptomic levels using METABRIC (n = 1,980), GeneMiner (n = 4,712), and KM-Plotter datasets. Proteomic expression was assessed via immunohistochemistry (n = 2,225) in the Nottingham Primary Breast Cancer Series. ATF4 genomic copy number (CN) variation and mRNA/protein in association with clinicopathological parameters, amino acid transporters (AATs), and patient outcome were investigated.</p><p><strong>Results: </strong>Genomic, transcriptomic, and proteomic overexpression of ATF4 was associated with more aggressive ER-negative tumours. ATF4 mRNA and protein expression were significantly associated with increased expression of glutamine related AATs including SLC1A5 (p &lt; 0.01) and SLC7A11 (p &lt; 0.02). High ATF4 and SLC1A5 protein expression was significantly associated with shorter breast cancer-specific survival (p &lt; 0.01), especially in ER+ tumours (p &lt; 0.01), while high ATF4 and SLC7A11 protein expression was associated with shorter survival (p &lt; 0.01).</p><p><strong>Conclusion: </strong>These findings suggest a complex interplay between ATF4 and AATs in breast cancer biology and underscore the potential role for ATF4 as a prognostic marker in ER+ breast cancer, offering a unique opportunity for risk stratification and personalized treatment strategies.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-11"},"PeriodicalIF":3.5,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Early Events in Serrated Pathway Colorectal Tumorigenesis by Using Digital Spatial Profiling. 利用数字空间图谱鉴定锯齿状通路结直肠肿瘤发生的早期事件。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-06-05 DOI: 10.1159/000539612
Min-Cheng Su, Ching-Hsiang Hsu, Ko-Chen Chen, Jun-Ru Lin, Huei-Ying Li, Yi-Ting Fang, Ruby Yun-Ju Huang, Yung-Ming Jeng
{"title":"Identification of Early Events in Serrated Pathway Colorectal Tumorigenesis by Using Digital Spatial Profiling.","authors":"Min-Cheng Su, Ching-Hsiang Hsu, Ko-Chen Chen, Jun-Ru Lin, Huei-Ying Li, Yi-Ting Fang, Ruby Yun-Ju Huang, Yung-Ming Jeng","doi":"10.1159/000539612","DOIUrl":"10.1159/000539612","url":null,"abstract":"<p><strong>Introduction: </strong>The colorectal serrated pathway involves precursor lesions known as sessile serrated lesions (SSL) and traditional serrated adenomas (TSA). Mutations in BRAF or KRAS are crucial early events in this pathway. Additional genetic and epigenetic changes contribute to the progression of these lesions into high-grade lesions and, eventually, invasive carcinoma.</p><p><strong>Methods: </strong>We employed digital spatial profiling to investigate the transcriptional changes associated with SSL and TSA. The genes identified are confirmed by immunohistochemical (IHC) staining. Colorectal cancer (CRC) cell lines with CEACAM6 overexpression and knockdown were established to study the roles of CEACAM6 on tumorigenesis of CRC.</p><p><strong>Results: </strong>Ten genes were upregulated in SSL and TSA, and seven were upregulated in both types of lesions. IHC staining confirmed overexpression of CEACAM6, LCN2, KRT19, and lysozyme in SSL and TSA. CEACAM6 expression is an early event in the serrated pathway but a late event in the conventional pathway. Using cell line models, we confirmed that CEACAM6 promotes CRC cells' proliferation, migration, and invasion abilities.</p><p><strong>Conclusion: </strong>These results highlight that the transcriptional changes in the early stages of tumorigenesis exhibit relative uniformity. Identifying these early events may hold significant promise in elucidating the mechanisms behind tumor initiation.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"1-18"},"PeriodicalIF":3.5,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of the Tumour Biological Significance of PCLO in Gastric Cancer: Results from a Large Central European Cohort. 探讨PCLO在癌症中的肿瘤生物学意义-来自中欧大型队列的结果。
IF 5 4区 医学
Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-11-07 DOI: 10.1159/000534889
Maximilian Bernhardt, Hans-Michael Behrens, Sandra Krüger, Christoph Röcken
{"title":"Exploration of the Tumour Biological Significance of PCLO in Gastric Cancer: Results from a Large Central European Cohort.","authors":"Maximilian Bernhardt, Hans-Michael Behrens, Sandra Krüger, Christoph Röcken","doi":"10.1159/000534889","DOIUrl":"10.1159/000534889","url":null,"abstract":"<p><strong>Introduction: </strong>A recent multiregional whole-exome sequencing of 48 tumour samples from 9 gastric adenocarcinomas discovered PCLO mutations in 23 (47.9%) tumour samples. Based on that unexpected high prevalence of PCLO mutations, we hypothesized a tumour biological significance of PCLO in gastric cancer (GC).</p><p><strong>Methods: </strong>Tumour samples (whole tissue sections) obtained from 466 patients resected for therapy-naive GC were stained with an anti-PCLO antibody. The histoscore for tumour cells and the presence of immunostaining of stromal cells and tumour vessels was documented for each case. An algorithm for PCLO immunopositivity was formed and correlated with clinicopathological patient characteristics.</p><p><strong>Results: </strong>175 GCs were classified as PCLO positive within tumour cells, and 291 as negative. Stromal cells were positive for PCLO in 106 cases and tumour vessels in 84. PCLO-positive GCs more often showed an intestinal phenotype, a lower T category and were more commonly associated with Helicobacter pylori infection. A separate analysis of PCLO expression in intestinal and diffuse type GCs, respectively, showed no significant correlations. Patients with PCLO negative/low tumour cells showed a shortened overall (14.0 ± 1.4 vs. 16.0 ± 1.8 months) and tumour-specific survival (15.0 ± 1.6 months vs. 17.9 ± 3.6). Comparison of PCLOs genotype with its phenotype in 48 tumour samples obtained from nine cases showed no direct correlations with missense mutations.</p><p><strong>Conclusion: </strong>Our data provide evidence that PCLO is differentially expressed in GC and might delay tumour progression.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"187-195"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11126201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71484696","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
Expanding the Spectrum of Sarcoma with an Internal Tandem Duplication of BCOR: A Non-Pediatric Nasosinusal Case. 扩大 BCOR 内部串联重复肉瘤的范围:一例非儿童鼻咽癌病例。
IF 3.5 4区 医学
Pathobiology Pub Date : 2024-01-01 Epub Date: 2024-05-08 DOI: 10.1159/000539239
Florian Piques, Martin Penicaud, Wassim Essamet, Simon Cabello-Aguilar, Aude Trinquet, Julie A Vendrell, Valérie Costes, Jérôme Solassol
{"title":"Expanding the Spectrum of Sarcoma with an Internal Tandem Duplication of BCOR: A Non-Pediatric Nasosinusal Case.","authors":"Florian Piques, Martin Penicaud, Wassim Essamet, Simon Cabello-Aguilar, Aude Trinquet, Julie A Vendrell, Valérie Costes, Jérôme Solassol","doi":"10.1159/000539239","DOIUrl":"10.1159/000539239","url":null,"abstract":"<p><strong>Introduction: </strong>Undifferentiated small round-cell sarcomas with BCL6 corepressor (BCOR) alterations, such as an internal tandem duplication (ITD) within exon 15, are typically described as a pediatric group of Ewing-like small round-cell sarcomas.</p><p><strong>Case presentation: </strong>In contrast to this notion, we report the case of a 71-year-old woman with a nasosinusal sarcoma featuring a BCOR ITD. To the best of our knowledge, this presence had not been previously documented in a sarcoma of the nasal and sinus cavities in an elderly patient. The identified duplication shares a similar minimal critical region as described in clear-cell sarcomas of the kidney in children. This alteration, located within the PCGF1 binding domain, is believed to disrupt the activity of PRC1.1.</p><p><strong>Conclusion: </strong>This case underscores the need for in-depth research into the molecular biology of these rare tumors and explores potential alternative treatment options. The patient achieved remission after two cycles of doxorubicin and cyclophosphamide chemotherapy, highlighting the promise of potential therapeutic options for BCOR ITD sarcomas.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"370-374"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CD15 Is a Risk Predictor and a Novel Target in Clear Cell Renal Cell Carcinoma. CD15是透明细胞肾细胞癌的风险预测因子和新靶点。
IF 5 4区 医学
Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-11-14 DOI: 10.1159/000535201
Philipp Joachim Stenzel, Mario Schindeldecker, Larissa Seidmann, Esther Herpel, Markus Hohenfellner, Gencay Hatiboglu, Sebastian Foersch, Stefan Porubsky, Stephan Macher-Goeppinger, Wilfried Roth, Katrin Elisabeth Tagscherer
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