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Exosomes in melanoma: Future potential for clinical theranostics
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-29 DOI: 10.1016/j.prp.2025.155950
Asmit Das , Swarup Sonar , Rajib Dhar , Vetriselvan Subramaniyan
{"title":"Exosomes in melanoma: Future potential for clinical theranostics","authors":"Asmit Das ,&nbsp;Swarup Sonar ,&nbsp;Rajib Dhar ,&nbsp;Vetriselvan Subramaniyan","doi":"10.1016/j.prp.2025.155950","DOIUrl":"10.1016/j.prp.2025.155950","url":null,"abstract":"<div><div>Melanoma, an aggressive form of skin cancer, presents significant therapeutic challenges due to its resistance to conventional treatments and propensity for metastasis. Exosomes, nanoscale vesicles secreted by a wide variety of cells, have emerged as promising tools for developing novel melanoma therapies. Exosome-based therapeutic approaches offer several advantages, including inherent biocompatibility, low immunogenicity, and the ability to cross biological barriers. This review explores the therapeutic potential of exosomes in melanoma treatment, focusing on their multifaceted roles in modulating tumor cell behavior, enhancing anti-tumor immune responses, and serving as targeted drug delivery vehicles. We discuss various strategies employed to engineer exosomes for enhanced therapeutic efficacy, including loading them with chemotherapeutic agents, small interfering RNAs (siRNAs), microRNAs (miRNAs), and immunomodulatory molecules. Additionally, we highlight the potential of exosomes derived from diverse sources to enhance anti-cancer effects. Furthermore, we address the challenges and future directions in translating exosome-based therapies from bench to bedside, emphasizing the need for standardized isolation and manufacturing protocols, as well as rigorous preclinical and clinical evaluations to unlock the full therapeutic potential of exosomes in the fight against melanoma.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155950"},"PeriodicalIF":2.9,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143759573","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
Multiomics evaluation and machine learning optimize molecular classification, prediction of prognosis and immunotherapy response for ovarian cancer
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-29 DOI: 10.1016/j.prp.2025.155925
Fang Ren , Xiaoao Pang , Ning Liu, Liancheng Zhu
{"title":"Multiomics evaluation and machine learning optimize molecular classification, prediction of prognosis and immunotherapy response for ovarian cancer","authors":"Fang Ren ,&nbsp;Xiaoao Pang ,&nbsp;Ning Liu,&nbsp;Liancheng Zhu","doi":"10.1016/j.prp.2025.155925","DOIUrl":"10.1016/j.prp.2025.155925","url":null,"abstract":"<div><h3>Background</h3><div>Ovarian cancer (OC), owing to its substantial heterogeneity and high invasiveness, has historically been devoid of precise, individualized treatment options. This study aimed to establish integrated consensus subtypes of OC using different multiomics integration methodologies.</div></div><div><h3>Methods</h3><div>We integrated five distinct multiomics datasets from multicentric cohorts to identify high-resolution molecular subgroups using a combination of 10 and 101 clustering and machine learning algorithms, respectively, to develop a robust consensus multiomics-related machine learning signature (CMMS).</div></div><div><h3>Results</h3><div>Two cancer subtypes with prognostic significance were identified using multiomics clustering analysis. 10 essential genes were identified in the CMMS. Patients in the high CMMS group exhibited a poorer prognosis, with a “cold tumor” phenotype and an immunosuppressive state with reduced immune cell infiltration. In contrast, patients in the low CMMS group exhibited a more favorable prognosis, with immune activation and a “hot tumor\" phenotype characterized by increased tumor mutation burden, tumor neoantigen burden, PD-L1 expression, and enriched M1 macrophages. Eight independent immunotherapy datasets were validated to further corroborate our findings regarding patients in the low CMMS group who responded better to immunotherapy.</div></div><div><h3>Conclusions</h3><div>CMMS detection has significant utility in the prognosis of patients at an early stage and identification of potential candidates for immunotherapy.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155925"},"PeriodicalIF":2.9,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748144","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
A novel variation in the LMX1B gene with nail-patella syndrome
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-29 DOI: 10.1016/j.prp.2025.155936
Lu Zhang , Jilong Xiong , Hiu-Ming Li , Xia Li , Xuewen Yu , Yingying Liang , Huili Sun , ShuDong Yang , Mumin Shao
{"title":"A novel variation in the LMX1B gene with nail-patella syndrome","authors":"Lu Zhang ,&nbsp;Jilong Xiong ,&nbsp;Hiu-Ming Li ,&nbsp;Xia Li ,&nbsp;Xuewen Yu ,&nbsp;Yingying Liang ,&nbsp;Huili Sun ,&nbsp;ShuDong Yang ,&nbsp;Mumin Shao","doi":"10.1016/j.prp.2025.155936","DOIUrl":"10.1016/j.prp.2025.155936","url":null,"abstract":"<div><div>Nail-patella syndrome (NPS; OMIM #161200) is an autosomal dominant disorder characterized by developmental defects in dorsal limb structures, kidneys, and eyes. The incidence of NPS is attributed to variations in the <em>LMX1B</em> gene. In this report, we present a novel <em>LMX1B</em> variation identified in a Chinese family affected by NPS. The proband, a 15-year-old male, exhibited a history of proteinuria and microscopic hematuria accompanied by renal dysfunction, nail dysplasia, bilateral patellar dysplasia, bilateral shoulder and elbow joint dysplasia and iliac horns. Histological examination revealed mild glomerular lesions. Under electron microscopy, irregular thickening of the glomerular basement membrane was observed, characterized by an appearance resembling occasional electron lucent areas (\"moth-eaten\" appearance) and the presence of disorganized collagen fiber bundles. Pathological findings were consistent with NPS. Genetic analysis identified a novel heterozygous variant, c.791 A&gt;C, p.(Gln264Pro), in the patient, his father and younger brother. This new variant has been annotated as potentially pathogenic according to the recommendation of the American Society for Medical Genetics and Genomics. This represents the first report of a novel variation in the <em>LMX1B</em> gene. These findings expand the spectrum of variations associated with <em>LMX1B</em> in NPS.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155936"},"PeriodicalIF":2.9,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748172","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
GATA1 insufficiencies in dysmegakaryopoiesis of myelodysplastic syndromes/neoplasms
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-29 DOI: 10.1016/j.prp.2025.155930
Fuhui Li , Yudi Zhang , Chengwen Li , Qi Sun , Jinqin Liu , Tiejun Qin , Zefeng Xu , Bing Li , Shiqiang Qu , Lijuan Pan , Qingyan Gao , Meng Jiao , Zhijian Xiao
{"title":"GATA1 insufficiencies in dysmegakaryopoiesis of myelodysplastic syndromes/neoplasms","authors":"Fuhui Li ,&nbsp;Yudi Zhang ,&nbsp;Chengwen Li ,&nbsp;Qi Sun ,&nbsp;Jinqin Liu ,&nbsp;Tiejun Qin ,&nbsp;Zefeng Xu ,&nbsp;Bing Li ,&nbsp;Shiqiang Qu ,&nbsp;Lijuan Pan ,&nbsp;Qingyan Gao ,&nbsp;Meng Jiao ,&nbsp;Zhijian Xiao","doi":"10.1016/j.prp.2025.155930","DOIUrl":"10.1016/j.prp.2025.155930","url":null,"abstract":"<div><div>GATA1 is one of critical transcription factors for megakaryopoiesis and platelet production. Our study aimed to explore the correlations between GATA1 expression and dysmegakaryopoiesis in myelodysplastic syndromes/neoplasm (MDS). We assessed GATA1 expression level of megakaryocytes by performing immunohistochemical staining on bone marrow biopsy sections from MDS patients. According to GATA1 expression level of megakaryocytes and positive megakaryocyte percentage, we assigned each patient a GATA1 score. Compared with <em>TP53</em>-wildtype patients, GATA1 scores significantly decreased in <em>TP53-</em>mutated patients (<em>P</em> &lt; 0.001). Patients with abnormal karyotypes showed decreased GATA1 scores than those with normal karyotypes (<em>P</em> = 0.024). GATA1 expression levels were significantly downregulated in dysplastic megakaryocytes, especially micromegakaryocytes (<em>P</em> &lt; 0.001). Furthermore, we explored the correlation between GATA1 expression levels and cytogenetic abnormalities of the same megakaryocyte using the morphology antibody chromosome (MAC) technique on fresh bone marrow smears. We found that GATA1-negative megakaryocytes had higher frequencies of cytogenetic abnormalities. Our results indicated that decreased GATA1 expression level of megakaryocytes was significantly associated with <em>TP53</em> mutations, abnormal karyotypes and dysmegakaryopoiesis in MDS, suggesting that downregulation of GATA1 expression levels of megakaryocytes plays a critical role in the pathogenesis of MDS.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155930"},"PeriodicalIF":2.9,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748146","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
Role of genetic factors in imatinib resistance of chronic myeloid leukemia: P53, RB1, ASS1 gene deletions, and chromosome 8 hyperdiploidy
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-28 DOI: 10.1016/j.prp.2025.155943
Aypara Hasanova , Chingiz Asadov , Aytan Shirinova , Gunay Aliyeva , Zohra Alimirzoyeva
{"title":"Role of genetic factors in imatinib resistance of chronic myeloid leukemia: P53, RB1, ASS1 gene deletions, and chromosome 8 hyperdiploidy","authors":"Aypara Hasanova ,&nbsp;Chingiz Asadov ,&nbsp;Aytan Shirinova ,&nbsp;Gunay Aliyeva ,&nbsp;Zohra Alimirzoyeva","doi":"10.1016/j.prp.2025.155943","DOIUrl":"10.1016/j.prp.2025.155943","url":null,"abstract":"<div><div>Additional genetic mutations alongside the BCR/ABL1 fusion gene in chronic myeloid leukemia (CML) patients suggest clonal evolution associated with disease progression. This study investigates the molecular determinants of imatinib resistance and disease progression in CML patients. Upon analyzing 141 study subjects undergoing imatinib therapy, encompassing both resistant cases and those showing favorable responses, a notable association emerged between certain genetic markers—such as P53 deletion and hyperdiploidy of chromosome 8—and resistance to imatinib therapy. Notably, patients with these genetic abnormalities experienced poor outcomes, particularly during blast crises. Conversely, RB1 gene mutations were absent in all cases and no direct association between ASS1 gene deletion and imatinib treatment resistance was observed. These findings emphasize the clinical relevance of identifying additional abnormalities alongside BCR/ABL1 translocation for predicting disease progression and guiding treatment strategies in CML.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155943"},"PeriodicalIF":2.9,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143725816","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
Peptides in breast cancer therapy: From mechanisms to emerging drug delivery and immunotherapy strategies
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-28 DOI: 10.1016/j.prp.2025.155946
Elmira Alaei , Farid Hashemi , Najma Farahani , Safa Tahmasebi , Noushin Nabavi , Salman Daneshi , Behnaz Mahmoodieh , Payman Rahimzadeh , Afshin Taheriazam , Mehrdad Hashemi
{"title":"Peptides in breast cancer therapy: From mechanisms to emerging drug delivery and immunotherapy strategies","authors":"Elmira Alaei ,&nbsp;Farid Hashemi ,&nbsp;Najma Farahani ,&nbsp;Safa Tahmasebi ,&nbsp;Noushin Nabavi ,&nbsp;Salman Daneshi ,&nbsp;Behnaz Mahmoodieh ,&nbsp;Payman Rahimzadeh ,&nbsp;Afshin Taheriazam ,&nbsp;Mehrdad Hashemi","doi":"10.1016/j.prp.2025.155946","DOIUrl":"10.1016/j.prp.2025.155946","url":null,"abstract":"<div><div>Breast cancer therapy can be improved by the application of multifunctional peptides and they have unique features, such as high specificity, minimized toxicity, and the capability to influence diverse processes. The role of peptides in breas cancer therapy is highlighted in the present review, examining their functions as therapeutic agents, diagnostic tools, and drug delivery application. Therapeutic peptides have displayed the ability to regulate key pathways in breast tumor, including HER2, VEGF, and EGFR, providing ideal alternatives to the conventional chemotherapy with reduced adverse effects. Additionally, peptide-based vaccines and immune-modulating peptides have demonstrated the capacity in enhancing anti-cancer immunity. The incorporation of peptides into nanoparticles has improved the delivery of drugs and genes, enhanced anti-cancer efficacy while minimizing side impacts. The progresses in the peptide engineering, including stapled peptides, peptide-drug conjugates, and cell-penetrating peptides, have remarkably increased their therapeutic efficacy and stability, elevating their applications in breast cancer therapy. Peptides can be developed using bioinformatics and high-throughput screening technologies to optimize pharmacokinetics and bioavailability. Despite their promise, peptides demonstrate challenges such as enzymatic degradation, limited stability, and high production costs. These obstacles can be addressed through strategies such as peptide cyclization, the employement of non-natural amino acids, and nanoparticle encapsulation. This review explores these recent advancements and strategies, providing ideal insights into the clinical potential of peptides in breast tumor therapy.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155946"},"PeriodicalIF":2.9,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748142","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
Bibliometric and graphical analysis of ferroptosis and aging research: Trends, gaps, and future directions
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-28 DOI: 10.1016/j.prp.2025.155949
Siyang Cao , Yingchen Pang , Yihao Wei , Deli Wang , Ao Xiong , Jun Yan , Hui Zeng
{"title":"Bibliometric and graphical analysis of ferroptosis and aging research: Trends, gaps, and future directions","authors":"Siyang Cao ,&nbsp;Yingchen Pang ,&nbsp;Yihao Wei ,&nbsp;Deli Wang ,&nbsp;Ao Xiong ,&nbsp;Jun Yan ,&nbsp;Hui Zeng","doi":"10.1016/j.prp.2025.155949","DOIUrl":"10.1016/j.prp.2025.155949","url":null,"abstract":"<div><div>Over the past 12 years, a significant body of evidence derived from extensive research has underscored the pivotal involvement of ferroptosis in the mechanisms underlying aging. Despite the growing body of literature on this topic, there remains a paucity of analytical and descriptive studies that explore its trajectory, key research directions, current trends, primary focal points, and future outlooks. This research endeavors to provide an exhaustive overview of the advancements in understanding the relationship between ferroptosis and aging over the past 12 years. The dataset utilized in this study was extracted from the Web of Science, encompassing records from January 1, 2012, through June 19, 2024. We conducted comprehensive bibliometric and visual analyses using advanced analytical tools. The results highlight China's dominant contribution, which accounts for 48.52 % of total publications, positioning it as a key player in this research area. Leading institutions, including Columbia University, Southern Medical University, and the Salk Institute for Biological Studies, demonstrate high research productivity. Pamela Maher and Gu Wei are identified as the most prolific researchers in this field. <em>Free Radical Biology and Medicine</em> is the leading journal, publishing the most articles in this field. This study identifies mitochondrial diseases, arrhythmias, Parkinson's disease, hepatocellular carcinoma, and iron-refractory iron deficiency anemia as the key diseases investigated in this field. This bibliometric evaluation offers critical perspectives for both experienced scholars and early-career researchers, enabling the identification of novel ideas and advancements within this domain.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155949"},"PeriodicalIF":2.9,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748141","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
Automated assessment of skin histological tissue structures by artificial intelligence in cutaneous melanoma
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-27 DOI: 10.1016/j.prp.2025.155923
Thamila Kerkour , Loes Hollestein , Alex Nigg , Sjors A. Koppes , Tamar Nijsten , Yunlei Li , Antien Mooyaart
{"title":"Automated assessment of skin histological tissue structures by artificial intelligence in cutaneous melanoma","authors":"Thamila Kerkour ,&nbsp;Loes Hollestein ,&nbsp;Alex Nigg ,&nbsp;Sjors A. Koppes ,&nbsp;Tamar Nijsten ,&nbsp;Yunlei Li ,&nbsp;Antien Mooyaart","doi":"10.1016/j.prp.2025.155923","DOIUrl":"10.1016/j.prp.2025.155923","url":null,"abstract":"<div><h3>Background</h3><div>Prognostic histopathological features such as mitosis in melanoma are excluded from the staging systems due to inter-observer variability and time constraints. While digital pathology offers artificial intelligence-driven solutions, existing melanoma algorithms often underperform or narrowly focus on specific features, limiting their clinical utility.</div></div><div><h3>Objective</h3><div>Develop and validate an automated artificial intelligence-driven segmentation framework to identify multiple histological tissue structures within cutaneous melanoma images.</div></div><div><h3>Methods</h3><div>Employing 157 melanoma whole slide images, U-Net and DeepLab3+ classifiers were independently trained Oncotopix ® platform using manual annotations, to detect specific histological features, termed application. All the applications are progressively executable. The performance of each application was measured when both operating independently and with sequential detection when applied to ten independent validation set images using accuracy and F1-score as metrics. The model was further validated by applying it to 442 whole-slide melanoma images, with dermatopathologists reviewing the segmentation outputs.</div></div><div><h3>Results</h3><div>Seven applications were developed for progressive automated detection: Whole tissue (1) and tumour microenvironment (TME) (2), Hair follicles &amp; sebaceous gland (3) within TME, ulceration (5), and melanoma cell area (6) based on DeepLab3+. Epidermis (4) and mitosis within the tumour area (7) based on U-Net. The applications demonstrated over 92 % accuracy and F1-score surpassing 80 %, except for the ulceration application (F1-score = 75 %). The pathologist examination indicated that 92 % of the 442 images had correct segmentations.</div></div><div><h3>Discussion and Conclusion</h3><div>The developed applications demonstrated high performance, enhancing the analysis of time-consuming histological features. The model facilitates the identification of histopathological features in large datasets allowing potential refinement of melanoma staging.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155923"},"PeriodicalIF":2.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143725817","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
Eosinophilic solid and cystic renal cell carcinoma: A case with two novel TSC2 mutations
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-27 DOI: 10.1016/j.prp.2025.155926
Junjie Li, Lei He, Jinsong Zhang, Zheng Wang, Dongge Liu, Chongqing Yang
{"title":"Eosinophilic solid and cystic renal cell carcinoma: A case with two novel TSC2 mutations","authors":"Junjie Li,&nbsp;Lei He,&nbsp;Jinsong Zhang,&nbsp;Zheng Wang,&nbsp;Dongge Liu,&nbsp;Chongqing Yang","doi":"10.1016/j.prp.2025.155926","DOIUrl":"10.1016/j.prp.2025.155926","url":null,"abstract":"<div><h3>Background</h3><div>Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a recently identified subtype of renal tumors. Due to its rarity, pathologists currently have a limited understanding of its clinical and pathological characteristics, which increases the risk of misdiagnosis.</div></div><div><h3>Case report</h3><div>In this paper, we present a case of a 21-year-old male diagnosed with eosinophilic solid and cystic renal cell carcinoma that is more common in females. Histologically, the tumor appears solid-cystic at low magnification, featuring polygonal tumor cells with high-grade nuclei and abundant eosinophilic cytoplasm. Eosinophilic or basophilic globules are observable within the cytoplasm. Foamy histocytes are clustered among the tumor cells. The cysts are lined by tumor cells arranged in a hobnail pattern. Immunohistochemistry results indicate the expression of CK20, AMACR, Cathepsin K, PAX8 and MelanA, while CK7, CD117, CAIX, TFE3, and HMB45 are negative. There is no loss of SDHB and FH. Molecular analysis identified c2158A&gt;T and c.1258–2 A&gt;T mutations in the <em>TSC2</em> gene. The patient was followed up for two months without any disease progression.</div></div><div><h3>Conclusion</h3><div>By detailing the distinctive morphology, immunophenotype, and molecular traits of this ESC RCC case, we have outlined the histological, immunohistochemical, and molecular features of this new renal tumor type, and reviewed relevant literatures for a comprehensive understanding. Our findings expand current knowledge of ESC RCC and can assist in reducing misdiagnosis.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155926"},"PeriodicalIF":2.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748173","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 the crucial roles of BAXhigh NK cells in human derived mesenchymal stem cell therapy for chronic heart failure patients
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-03-25 DOI: 10.1016/j.prp.2025.155924
Pengfei Zhang , Yuanfeng Xin , Hui Yuan , Zhongmin Liu
{"title":"Identification of the crucial roles of BAXhigh NK cells in human derived mesenchymal stem cell therapy for chronic heart failure patients","authors":"Pengfei Zhang ,&nbsp;Yuanfeng Xin ,&nbsp;Hui Yuan ,&nbsp;Zhongmin Liu","doi":"10.1016/j.prp.2025.155924","DOIUrl":"10.1016/j.prp.2025.155924","url":null,"abstract":"<div><div>Mesenchymal stem cells (MSCs) have demonstrated significant potential in heart failure (HF) treatment, but the exact mechanisms are still not fully understood. This research utilized single-cell RNA sequencing to examine alterations in peripheral blood mononuclear cells from heart failure patients pre- and post-MSC therapy. Moreover, we utilized Mendelian randomization (MR) analysis to identify causal genes linked to HF. Specifically, through scRNA-seq, we observed a progressive increase in Natural Killer (NK) cells within peripheral blood mononuclear cells (PBMCs) following MSC treatment. Furthermore, MR analysis identified the differentially expressed gene (DEG) <em>BAX</em> as a potential target gene for HF. Notably, the expression of <em>BAX</em> was significantly downregulated after MSC treatment, suggesting its potential as a therapeutic response biomarker. Cell-cell communication analysis revealed that BAX<sup>high</sup> NK cells displayed reduced cell-cell communication and increased apoptotic activity. Enrichment analysis indicated an association between BAX<sup>high</sup> NK cells and the “coagulant” pathway. Taken together, our findings suggest that <em>BAX</em> may contribute to the pathogenesis of HF by promoting coagulation and apoptotic pathways. In contrast, MSCs appear to suppress <em>BAX</em> expression, thereby inhibiting these pathways. MSC treatment increases the proportion of NK cells and reduces BAX<sup>high</sup> NK cells, ultimately improving NK cell function, and ameliorating HF.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"269 ","pages":"Article 155924"},"PeriodicalIF":2.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748171","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
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