World journal of experimental medicine最新文献

{"title":"Environmental mineral density and thyroid malignancy: A multicenter cross-sectional study.","authors":"John Bukasa-Kakamba, Ayrton I Bangolo, Shruti Wadhwani, Pascal Bayauli, Nikita Wadhwani, Vignesh K Nagesh, Maria J Mou, Princejeet S Chahal, Branly Mbunga, Sindhuja Chindam, Taieba Mushfiq, Abhishek Thapa, Nidhi L Rao, Isis Kapinga Kalambayi, Rahul Y Rajesh, Ipek B Sarioguz, Vishal Kr Thoomkuntla, Shamsul Arefin, Navneet Kaur, Manasse Bukasa Mutombo, Satyajeet Singh, Natalia Muto, Surya Vamsi, Pujita Mallampalli, Aliocha Natuhoyila Nkodila, Simcha Weissman, Jean-René M'Buyamba-Kabangu","doi":"10.5493/wjem.v15.i2.103371","DOIUrl":"10.5493/wjem.v15.i2.103371","url":null,"abstract":"<p><strong>Background: </strong>Several trace minerals have been shown to be associated with thyroid cancer. Democratic Republic of Congo (DRC) is deemed the most mineral-rich country globally. Data on the characteristics of thyroid nodules in various mineral-rich regions of the DRC is scarce.</p><p><strong>Aim: </strong>To analyze the differential spectrum of thyroid nodules based on locoregional variance in mineral density.</p><p><strong>Methods: </strong>We conducted a cross-sectional study on 529 patients with thyroid nodules residing in Katanga, South Kivu and Kinshasa between 2005 and 2019. Of these three provinces, Katanga and South Kivu have the highest mineral density with the DRC.</p><p><strong>Results: </strong>Mean patient age was 44.2 years ± 14.6 years with a female predominance, with a female to male ratio of 5.4. The 66.5% of patients had a family history of thyroid disease. Total 74 patients had simple nodules, and the remaining 455 patients had multiple nodules. The 87.7% of patients were euthyroid. The nodules exhibited varying characteristics namely hypoechogenicity (84.5%), solid echostructure (72.2%), macronodular appearance (59.8%), calcifications (14.4%) and associated lymphadenopathy (15.5%). The 22.3% of the nodules were malignant. Factors independently associated with malignancy were older age (≥ 60 years) [adjusted odds ratio (aOR) = 2.81], Katanga province (aOR = 8.19), solid echostructure (aOR = 7.69), hypoechogenicity (aOR = 14.19), macronodular appearance (aOR = 9.13), calcifications (aOR = 2.6) and presence of lymphadenopathy (aOR = 6.94).</p><p><strong>Conclusion: </strong>Thyroid nodules emanating from the mineral-laden province of Katanga were more likely to be malignant. Early and accurate risk-stratification of patients with thyroid nodules residing in high-risk areas could be instrumental in optimizing survival in these patients.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"103371"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment and characterization of a new human gallbladder cancer cell line, OCUG-2.","authors":"Qiang Wang, Canfeng Fan, Gen Tsujio, Takashi Sakuma, Koji Maruo, Yurie Yamamoto, Daiki Imanishi, Kyoka Kawabata, Hinano Nishikubo, Saki Kanei, Rika Aoyama, Syuhei Kushiyama, Masaichi Ohira, Masakazu Yashiro","doi":"10.5493/wjem.v15.i2.100443","DOIUrl":"10.5493/wjem.v15.i2.100443","url":null,"abstract":"<p><strong>Background: </strong>Gallbladder cancer (GBC) is a highly aggressive malignant tumor originating from the biliary tract. As one of the most common malignancies in the biliary system, GBC is particularly challenging due to its tendency to remain asymptomatic, which often results in delayed diagnoses even at advanced stages. Combined with its invasive potential and poor response to conventional therapies, GBC has a high mortality rate, highlighting the critical need for innovative therapeutic approaches. Identifying molecular biomarkers for early detection and discovering novel therapeutic targets might be essential to improving outcomes of patients with GBC.</p><p><strong>Aim: </strong>To establish a novel GBC cell line to investigate the molecular mechanisms underlying GBC progression and evaluate potential therapeutic targets.</p><p><strong>Methods: </strong>We developed a unique GBC cell line, named OCUG-2, derived from a metastatic peritoneal implant, and verified its authenticity using short tandem repeat (STR) profiling. RT-PCR and RNA sequencing (RNA-seq) were performed to assess gene expression profiles, with functional enrichment analyzed through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. The MTT cell proliferation assay and an invasion assay were performed to evaluate response to nine inhibitors. Immunohistochemistry (IHC) was conducted on 34 GBC samples to analyze insulin-like growth factor 1 receptor (IGF1R) expression.</p><p><strong>Results: </strong>OCUG-2 cells displayed adhesive growth with dendritic morphology and a 30-hour doubling time. Subcutaneous inoculation of OCUG-2 cells into mice confirmed their tumorigenic potential. STR analysis authenticated the cell line, and there was high mRNA and protein expression of IGF1R in OCUG-2 cells. The IGF1R inhibitor picropodophyllotoxin significantly inhibited OCUG-2 cell proliferation, yielding an IC₅₀ of 0.49 μM. RNA-seq analysis identified gene fusions, and GO/KEGG functional enrichment analyses revealed pathways implicated in cancer progression. IHC analysis showed IGF1R positivity in 18 of 34 GBC cases, with significant association between IGF1R expression and poor prognosis. In invasion assays, an IGF1R inhibitor effectively reduced OCUG-2 cell invasiveness.</p><p><strong>Conclusion: </strong>IGF1R might be a promising target for GBC. The newly established OCUG-2 cell line serves as a valuable model for investigating the molecular mechanisms of GBC and evaluating therapeutic strategies.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"100443"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MicroRNA-155 modulation by renin-angiotensin system inhibitors may underlie their enigmatic role in COVID-19.","authors":"Konstantinos I Papadopoulos, Alexandra Papadopoulou, Tar Choon Aw","doi":"10.5493/wjem.v15.i2.100748","DOIUrl":"10.5493/wjem.v15.i2.100748","url":null,"abstract":"<p><p>Severe acute respiratory coronavirus-2 (SARS-CoV-2) infection course differs between the young and healthy and the elderly with co-morbidities. In the latter a potentially lethal coronavirus disease 2019 (COVID-19) cytokine storm has been described with an unrestrained renin-angiotensin (Ang) system (RAS). RAS inhibitors [Ang converting enzyme inhibitors and Ang II type 1 receptor (AT1R) blockers] while appearing appropriate in COVID-19, display enigmatic effects ranging from protection to harm. MicroRNA-155 (miR-155)-induced translational repression of key cardiovascular (CV) genes (<i>i.e., AT1R</i>) restrains SARS-CoV-2-engendered RAS hyperactivity to tolerable and SARS-CoV-2-protective CV phenotypes supporting a protective erythropoietin (EPO) evolutionary landscape. MiR-155's disrupted repression of the <i>AT1R</i> 1166C-allele associates with adverse CV and COVID-19 outcomes, confirming its decisive role in RAS modulation. RAS inhibition disrupts this miR-155-EPO network by further lowering EPO and miR-155 in COVID-19 with co-morbidities, thereby allowing unimpeded RAS hyperactivity to progress precariously. Current pharmacological interventions in COVID-19 employing RAS inhibition should consider these complex but potentially detrimental miR-155/EPO-related effects.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"100748"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatitis B virus genotype distribution and mutation patterns: Insights and clinical implications for hepatitis B virus positive patients.","authors":"Manisha M Ratnaparkhi, Chanda R Vyawahare, Nageswari R Gandham","doi":"10.5493/wjem.v15.i2.102395","DOIUrl":"10.5493/wjem.v15.i2.102395","url":null,"abstract":"<p><p>Hepatitis B virus (HBV) infection is still a major worldwide health concern, contributing to chronic liver disorders like hepatocellular carcinoma (HCC). This review comprehensively analyzes HBV genotype distribution, mutation patterns, and their clinical implications, focusing on diagnostic and therapeutic strategies for HBV-positive patients. The discussion begins with HBV virology, emphasizing its capacity for chronic hepatitis and its association with severe liver complications, notably HCC. Understanding HBV genotypes (A-J) and their distinct geographic distributions is crucial, as genotype variations influence disease progression and treatment responses. Genotypes like C are particularly linked to heightened HCC risk, highlighting the need for genotype-specific management strategies. The genomic structure of HBV, consisting of four open reading frames (ORFs) encoding essential viral proteins, is detailed, with emphasis on mutations within these ORFs influenced by host immune responses and antiviral therapies. These mutations contribute to viral resistance and virulence, impacting treatment outcomes through alterations in viral replication dynamics. Clinical implications are explored through genotype-specific impacts on disease outcomes and treatment approaches. Genotype and mutation analysis guide personalized treatment regimens, optimizing therapeutic efficacy while minimizing adverse effects and preventing drug resistance. Diagnostic molecular techniques such as polymerase chain reaction and sequencing are pivotal in genotype and mutation detection, facilitating tailored treatment decisions.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"102395"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunomodulatory effect of allium sativum in type 2 diabetes mellitus.","authors":"Elva Manuela Mejía Delgado, Juan Eduardo Quiroz-Aldave, María Del Carmen Durand-Vásquez, Lea Noemí Aldave-Pita, Jenyfer María Fuentes-Mendoza, Luis Alberto Concepción-Urteaga, José Paz-Ibarra, Marcio José Concepción-Zavaleta","doi":"10.5493/wjem.v15.i2.103481","DOIUrl":"10.5493/wjem.v15.i2.103481","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a metabolic disorder marked by chronic hyperglycemia and low-grade inflammation, contributing to various complications. Natural agents with immunomodulatory and antioxidant properties have gained attention as adjunct therapies. To review the effects of Allium sativum on inflammatory pathways and metabolic alterations associated with T2DM. A narrative review was performed using PubMed/MEDLINE, EMBASE, and Scielo databases. The search included terms such as \"allium sativum\", \"inflammation\", \"oxidative stress\", and \"diabetes mellitus\". Studies in English and Spanish - ranging from clinical trials to meta-analyses - were selected based on relevance. Bioactive compounds such as allicin, S-allyl cysteine, and diallyl disulfide exhibit anti-inflammatory, antioxidant, hypoglycemic, and lipid-lowering actions. Preclinical studies show improved glucose metabolism, insulin sensitivity, and organ function. Moreover, clinical evidence supports reductions in fasting glucose, hemoglobin A1c, blood pressure, and oxidative stress, with good safety profiles. Allium sativum appears to be a promising adjuvant in T2DM management, offering metabolic and anti-inflammatory benefits. Nonetheless, further high-quality clinical trials are needed to confirm its long-term efficacy and standardize its therapeutic use.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"103481"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamics of inflammatory signals within the tumor microenvironment.","authors":"Hala Issa, Lokjan Singh, Kok-Song Lai, Tina Parusheva-Borsitzky, Shamshul Ansari","doi":"10.5493/wjem.v15.i2.102285","DOIUrl":"10.5493/wjem.v15.i2.102285","url":null,"abstract":"<p><p>Tumor stroma, or tumor microenvironment (TME), has been in the spotlight during recent years for its role in tumor development, growth, and metastasis. It consists of a myriad of elements, including tumor-associated macrophages, cancer-associated fibroblasts, a deregulated extracellular matrix, endothelial cells, and vascular vessels. The release of proinflammatory molecules, due to the inflamed microenvironment, such as cytokines and chemokines is found to play a pivotal role in progression of cancer and response to therapy. This review discusses the major key players and important chemical inflammatory signals released in the TME<i>.</i> Furthermore, the latest breakthroughs in cytokine-mediated crosstalk between immune cells and cancer cells have been highlighted. In addition, recent updates on alterations in cytokine signaling between chronic inflammation and malignant TME have also been reviewed.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"102285"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the clinical efficacy of green tea extract gel as local drug delivery for periodontitis.","authors":"Santhiya Rengaraj, Sri Sivashankari Thilagar, Pradeep Kumar Yadalam, Priyanka Pampani, Ebenezer Mani, Carlos M Ardila","doi":"10.5493/wjem.v15.i2.105636","DOIUrl":"10.5493/wjem.v15.i2.105636","url":null,"abstract":"<p><strong>Background: </strong>Periodontal disease is a chronic inflammatory condition characterized by periodontal pocket formation, clinical attachment loss, and destruction of alveolar bone. Its conventional treatment primarily involves mechanical debridement and plaque control, but localized antimicrobial therapy offers site-specific advantages. While antibiotics such as metronidazole and doxycycline are commonly used, green tea extract, which is rich in epigallocatechin gallate, has been proposed as a promising alternative for local drug delivery due to its anti-inflammatory and antimicrobial properties.</p><p><strong>Aim: </strong>To compare the clinical efficacy of green tea extract gel and ornidazole gel as adjuncts to scaling and root planing (SRP) in patients with periodontitis.</p><p><strong>Methods: </strong>Teeth with probing pocket depths (PPD) of 4-7 mm were selected. Participants' baseline oral hygiene index-simplified, plaque index, clinical attachment loss, and PPD were recorded. The participants were randomized into two groups: One received green tea extract gel after SRP, and the other received ornidazole gel. Subgingival drug delivery was performed, and participants refrained from brushing or interproximal cleaning for ten days. Their clinical parameters were re-evaluated after one month.</p><p><strong>Results: </strong>The PPD decreased significantly from baseline to one month in both groups. However, the green tea extract gel group exhibited superior outcomes to the ornidazole gel group, with a mean difference in PPD of 0.28 ± 0.78 mm at one month (<i>P</i> < 0.007).</p><p><strong>Conclusion: </strong>As an adjunct to SRP, green tea extract gel showed greater efficacy in improving clinical periodontal parameters than ornidazole gel.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"105636"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrative review of the gut microbiome's role in pain management for orthopaedic conditions.","authors":"Naveen Jeyaraman, Madhan Jeyaraman, Priya Dhanpal, Swaminathan Ramasubramanian, Arulkumar Nallakumarasamy, Sathish Muthu, Gabriel Silva Santos, Lucas Furtado da Fonseca, José Fábio Lana","doi":"10.5493/wjem.v15.i2.102969","DOIUrl":"10.5493/wjem.v15.i2.102969","url":null,"abstract":"<p><p>The gut microbiome, a complex ecosystem of microorganisms, has a significant role in modulating pain, particularly within orthopaedic conditions. Its impact on immune and neurological functions is underscored by the gut-brain axis, which influences inflammation, pain perception, and systemic immune responses. This integrative review examines current research on how gut dysbiosis is associated with various pain pathways, notably nociceptive and neuroinflammatory mechanisms linked to central sensitization. We highlight advancements in meta-omics technologies, such as metagenomics and metaproteomics, which deepen our understanding of microbiome-host interactions and their implications in pain. Recent studies emphasize that gut-derived short-chain fatty acids and microbial metabolites play roles in modulating neuroinflammation and nociception, contributing to pain management. Probiotics, prebiotics, synbiotics, and faecal microbiome transplants are explored as potential therapeutic strategies to alleviate pain through gut microbiome modulation, offering an adjunct or alternative to opioids. However, variability in individual microbiomes poses challenges to standardizing these treatments, necessitating further rigorous clinical trials. A multidisciplinary approach combining microbiology, immunology, neurology, and orthopaedics is essential to develop innovative, personalized pain management strategies rooted in gut health, with potential to transform orthopaedic pain care.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"102969"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Weak D phenotype in transfusion medicine and obstetrics: Challenges and opportunities.","authors":"Prasanna Bharathi Sainath, Velmurugan Ramaiyan","doi":"10.5493/wjem.v15.i2.102345","DOIUrl":"10.5493/wjem.v15.i2.102345","url":null,"abstract":"<p><p>The Rh blood group system, especially the D antigen, is crucial in transfusion medicine and obstetrics. Weak D phenotypes, caused by mutations in the Rhesus D antigen (RhD) blood group (<i>RHD</i>) gene, result in reduced antigen expression, posing challenges in serological testing and clinical management. Variability in detection methods leads to inconsistent results, making accurate classification difficult. Molecular techniques like polymerase chain reaction and DNA sequencing have significantly improved the identification of weak D variants, offering more reliable transfusion strategies and reducing the risk of alloimmunization. However, challenges such as lack of standardized protocols, cost constraints, and population-specific variations remain. In obstetrics, proper management of pregnant women with weak D is essential to prevent hemolytic disease of the fetus and newborn. Non-invasive prenatal testing using cell-free fetal DNA shows promise in predicting RhD incompatibility and minimizing unnecessary Rh immune globulin administration. Future advancements in high-throughput genotyping and discovery of novel <i>RHD</i> alleles could enhance RhD testing accuracy and efficiency. Standardizing <i>RHD</i> genotyping and adopting genotype-based management strategies for Rh immune globulin therapy and red blood cell transfusions will improve patient safety and clinical outcomes. This review examines the molecular basis, challenges, and future prospects in weak D phenotype management.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 2","pages":"102345"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12019613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of <i>RUNX1</i> gene alterations in <i>de novo</i> adult acute myeloid leukemia.","authors":"Hoda M Abd El-Ghany, Mona S El Ashry, Mona S Abdellateif, Ahmed Rabea, Nada Sultan, Omnia Y Abd El Dayem","doi":"10.5493/wjem.v15.i1.99516","DOIUrl":"10.5493/wjem.v15.i1.99516","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia (AML) is a complicated disease with uncontrolled hematopoietic precursor proliferation induced by various genetic alterations. Runt-related transcription factor-1 (<i>RUNX1</i>) is commonly disrupted by chromosomal translocations in hematological malignancies.</p><p><strong>Aim: </strong>To characterize <i>RUNX1</i> gene rearrangements and copy number variations in newly diagnosed adult AML patients, with an emphasis on the impact of clinical and laboratory features on the outcome.</p><p><strong>Methods: </strong>Fluorescence in situ hybridization was used to test <i>RUNX1</i> gene alterations in 77 newly diagnosed adult AML cases. <i>NPM1</i>, <i>FLT3/ITD</i>, <i>FLT3/TKD</i>, and <i>KIT</i> mutations were tested by PCR. Prognostic clinical and laboratory findings were studied in relation to <i>RUNX1</i> alterations.</p><p><strong>Results: </strong><i>RUNX1</i> abnormalities were detected by fluorescence in situ hybridization in 41.6% of patients: 20.8% had translocations, 22.1% had amplification, and 5.2% had deletion. Translocations prevailed in AML-M2 (<i>P</i> = 0.019) with a positive expression of myeloperoxidase (<i>P</i> = 0.031), whereas deletions dominated in M4 and M5 subtypes (<i>P</i> = 0.008) with a positive association with CD64 expression (<i>P</i> = 0.05). The modal chromosomal number was higher in cases having amplifications (<i>P</i> = 0.007) and lower in those with deletions (<i>P</i> = 0.008). <i>RUNX1</i> abnormalities were associated with complex karyotypes (<i>P</i> < 0.001) and were mutually exclusive of <i>NPM1</i> mutations. After 44 months of follow-up, <i>RUNX1</i> abnormalities affected neither patients' response to treatment nor overall survival.</p><p><strong>Conclusion: </strong><i>RUNX1</i> abnormalities were mutually exclusive of <i>NPM1</i> mutations. <i>RUNX1</i> abnormalities affected neither patients' response to treatment nor overall survival.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"15 1","pages":"99516"},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671968","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}