European Journal of Medical Research最新文献

{"title":"Cardiovascular disease diagnosis: a holistic approach using the integration of machine learning and deep learning models","authors":"Hossein Sadr, Arsalan Salari, Mohammad Taghi Ashoobi, Mojdeh Nazari","doi":"10.1186/s40001-024-02044-7","DOIUrl":"https://doi.org/10.1186/s40001-024-02044-7","url":null,"abstract":"The incidence and mortality rates of cardiovascular disease worldwide are a major concern in the healthcare industry. Precise prediction of cardiovascular disease is essential, and the use of machine learning and deep learning can aid in decision-making and enhance predictive abilities. The goal of this paper is to introduce a model for precise cardiovascular disease prediction by combining machine learning and deep learning. Two public heart disease classification datasets with 70,000 and 1190 records besides a locally collected dataset with 600 records were used in our experiments. Then, a model which makes use of both machine learning and deep learning was proposed in this paper. The proposed model employed CNN and LSTM, as the representatives of deep learning models, besides KNN and XGB, as the representatives of machine learning models. As each classifier defined the output classes, majority voting was then used as an ensemble learner to predict the final output class. The proposed model obtained the highest classification performance based on all evaluation metrics on all datasets, demonstrating its suitability and reliability in forecasting the probability of cardiovascular disease.","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":4.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Universal penalized regression (Elastic-net) model with differentially methylated promoters for oral cancer prediction","authors":"Shantanab Das, Saikat Karuri, Joyeeta Chakraborty, Baidehi Basu, Aditi Chandra, S. Aravindan, Anirvan Chakraborty, Debashis Paul, Jay Gopal Ray, Matt Lechner, Stephan Beck, E. Andrew Teschendorff, Raghunath Chatterjee","doi":"10.1186/s40001-024-02047-4","DOIUrl":"https://doi.org/10.1186/s40001-024-02047-4","url":null,"abstract":"DNA methylation showed notable potential to act as a diagnostic marker in many cancers. Many studies proposed DNA methylation biomarker in OSCC detection, while most of these studies are limited to specific cohorts or geographical location. However, the generalizability of DNA methylation as a diagnostic marker in oral cancer across different geographical locations is yet to be investigated. We used genome-wide methylation data from 384 oral cavity cancer and normal tissues from TCGA HNSCC and eastern India. The common differentially methylated CpGs in these two cohorts were used to develop an Elastic-net model that can be used for the diagnosis of OSCC. The model was validated using 812 HNSCC and normal samples from different anatomical sites of oral cavity from seven countries. Droplet Digital PCR of methyl-sensitive restriction enzyme digested DNA (ddMSRE) was used for quantification of methylation and validation of the model with 22 OSCC and 22 contralateral normal samples. Additionally, pyrosequencing was used to validate the model using 46 OSCC and 25 adjacent normal and 21 contralateral normal tissue samples. With ddMSRE, our model showed 91% sensitivity, 100% specificity, and 95% accuracy in classifying OSCC from the contralateral normal tissues. Validation of the model with pyrosequencing also showed 96% sensitivity, 91% specificity, and 93% accuracy for classifying the OSCC from contralateral normal samples, while in case of adjacent normal samples we found similar sensitivity but with 20% specificity, suggesting the presence of early disease methylation signature at the adjacent normal samples. Methylation array data of HNSCC and normal tissues from different geographical locations and different anatomical sites showed comparable sensitivity, specificity, and accuracy in detecting oral cavity cancer with across. Similar results were also observed for different stages of oral cavity cancer. Our model identified crucial genomic regions affected by DNA methylation in OSCC and showed similar accuracy in detecting oral cancer across different geographical locations. The high specificity of this model in classifying contralateral normal samples from the oral cancer compared to the adjacent normal samples suggested applicability of the model in early detection.","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":4.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Value of CDR1-AS as a predictive and prognostic biomarker for patients with breast cancer receiving neoadjuvant chemotherapy in a prospective Chinese cohort","authors":"Chenwei Yuan, Yaqian Xu, Liheng Zhou, Jing Peng, Rui Sha, Yanping Lin, Shuguang Xu, Yumei Ye, Fan Yang, Tingting Yan, Xinrui Dong, Yaohui Wang, Wenjin Yin, Jinsong Lu","doi":"10.1186/s40001-024-02015-y","DOIUrl":"https://doi.org/10.1186/s40001-024-02015-y","url":null,"abstract":"Neoadjuvant chemotherapy (NAC) is an effective treatment for locally advanced breast cancer (BC). However, there are no effective biomarkers for evaluating its efficacy. CDR1-AS, well known for its important role in tumorigenesis, is a famous circular RNA involved in the chemosensitivity of cancers other than BC. However, the predictive role of CDR1-AS in the efficacy and prognosis of NAC for BC has not been fully elucidated. We herein aimed to clarify this role. The present study included patients treated with paclitaxel-cisplatin-based NAC. The expression of CDR1-AS was detected by real-time quantitative reverse transcription polymerase chain reaction testing. The predictive value of CDR1-AS expression was examined in pathological complete response (pCR) after NAC using logistic regression analysis. The relationship between CDR1-AS expression and survival was demonstrated using the Kaplan–Meier method, and tested by log-rank test and Cox proportional hazards regression model. The present study enrolled 106 patients with BC. Multivariate logistic regression analysis revealed that CDR1-AS expression was an independent predictive factor for pCR (odds ratio [OR] = 0.244; 95% confidence interval [CI] 0.081–0.732; p = 0.012). Furthermore, pCR benefits with low CDR1-AS expression were observed across all subgroups. The Kaplan–Meier curves and log-rank test suggested that the CDR1-AS high-expression group showed significantly better disease-free survival (DFS; log-rank p = 0.022) and relapse-free survival (RFS; log-rank p = 0.012) than the CDR1-AS low-expression group. Multivariate analysis revealed that CDR1-AS expression was an independent prognostic factor for DFS (adjusted HR = 0.177; 95% CI 0.034–0.928, p = 0.041), RFS (adjusted HR = 0.061; 95% CI 0.006–0.643, p = 0.020), and distant disease-free survival (adjusted HR = 0.061; 95% CI 0.006–0.972, p = 0.047). CDR1-AS may be a potential novel predictive biomarker of pCR and survival benefit in patients with locally advanced BC receiving NAC. This may help identify specific chemosensitive individuals and build personalized treatment strategies.","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":4.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Time to death and its determinant factors of stroke patients at Gambella General Hospital, Gambella, Ethiopia","authors":"Chekol Alemu, Habitamu Wudu, Bizuayehu Bogale, Zerihun Getachew, Abebe Nega","doi":"10.1186/s40001-024-02026-9","DOIUrl":"https://doi.org/10.1186/s40001-024-02026-9","url":null,"abstract":"A stroke or a cerebrovascular accident is a common cause of death and a leading cause of long-term, severe disability in both developed and developing countries. The most recent global burden of disease report states that there were 11.9 million new cases of stroke worldwide; stroke accounts for nearly 1 in 8 deaths globally (12%, 6.5 million deaths) and claims a life every 5 s, making it the second most common cause of death worldwide. The goal of the study was to identify the most important factors influencing stroke patients' time to death at Gambella General Hospital. Data was gathered from patient files in a hospital using a retrospective study methodology, spanning the period from September 2018 to September 2020. R 3.4.0 statistical software and STATA version 14.2 were used for data entry and analysis. The survival time was compared using the log-rank tests and the Kaplan–Meier survival curve. The fitness of the Cox proportional hazard model was examined. The final model that was fitted was the log-logistic AFT model. A statistically significant correlation was defined as having a p value of less than 0.05 and the accelerated factor (γ) with its 95% confidence interval was employed. Eight days was the total median death time (95% CI 6–10). Significant predictors for shortened mortality time were age (γ = 0.94; 95% CI (0.0.920–0.980), hypertension (γ = 0.63; 95% CI (0.605–0.660), and baseline complications (γ = 0.24; 95% CI (0.223–0.256). The shortened timing of death was significantly predicted by age, hypertension, and baseline complications. In light of the study's findings, health administrators and caregivers should work to improve society's overall health.","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":4.2,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between serum alkaline phosphatase and clinical prognosis in patients with acute liver failure following cardiac arrest: a retrospective cohort study","authors":"Yuequn Xie, Liangen Lin, Congcong Sun, Linglong Chen, Wang Lv","doi":"10.1186/s40001-024-02049-2","DOIUrl":"https://doi.org/10.1186/s40001-024-02049-2","url":null,"abstract":"Acute liver failure (ALF) following cardiac arrest (CA) poses a significant healthcare challenge, characterized by high morbidity and mortality rates. This study aims to assess the correlation between serum alkaline phosphatase (ALP) levels and poor outcomes in patients with ALF following CA. A retrospective analysis was conducted utilizing data from the Dryad digital repository. The primary outcomes examined were intensive care unit (ICU) mortality, hospital mortality, and unfavorable neurological outcome. Multivariable logistic regression analysis was employed to assess the relationship between serum ALP levels and clinical prognosis. The predictive value was evaluated using receiver operator characteristic (ROC) curve analysis. Two prediction models were developed, and model comparison was performed using the likelihood ratio test (LRT) and the Akaike Information Criterion (AIC). A total of 194 patients were included in the analysis (72.2% male). Multivariate logistic regression analysis revealed that a one-standard deviation increase of ln-transformed ALP were independently associated with poorer prognosis: ICU mortality (odds ratios (OR) = 2.49, 95% confidence interval (CI) 1.31–4.74, P = 0.005), hospital mortality (OR = 2.21, 95% CI 1.18–4.16, P = 0.014), and unfavorable neurological outcome (OR = 2.40, 95% CI 1.25–4.60, P = 0.009). The area under the ROC curve for clinical prognosis was 0.644, 0.642, and 0.639, respectively. Additionally, LRT analyses indicated that the ALP-combined model exhibited better predictive efficacy than the model without ALP. Elevated serum ALP levels upon admission were significantly associated with poorer prognosis of ALF following CA, suggesting its potential as a valuable marker for predicting prognosis in this patient population.","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":4.2,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chromosomal instability: a key driver in glioma pathogenesis and progression.","authors":"Adele Mazzoleni, Wireko Andrew Awuah, Vivek Sanker, Hareesha Rishab Bharadwaj, Nicholas Aderinto, Joecelyn Kirani Tan, Helen Ye Rim Huang, Jeisun Poornaselvan, Muhammad Hamza Shah, Oday Atallah, Aya Tawfik, Mohamed Elsayed Abdelmeguid Elsayed Elmanzalawi, Sama Hesham Ghozlan, Toufik Abdul-Rahman, Jeremiah Adepoju Moyondafoluwa, Athanasios Alexiou, Marios Papadakis","doi":"10.1186/s40001-024-02043-8","DOIUrl":"10.1186/s40001-024-02043-8","url":null,"abstract":"<p><p>Chromosomal instability (CIN) is a pivotal factor in gliomas, contributing to their complexity, progression, and therapeutic challenges. CIN, characterized by frequent genomic alterations during mitosis, leads to genetic abnormalities and impacts cellular functions. This instability results from various factors, including replication errors and toxic compounds. While CIN's role is well documented in cancers like ovarian cancer, its implications for gliomas are increasingly recognized. CIN influences glioma progression by affecting key oncological pathways, such as tumor suppressor genes (e.g., TP53), oncogenes (e.g., EGFR), and DNA repair mechanisms. It drives tumor evolution, promotes inflammatory signaling, and affects immune interactions, potentially leading to poor clinical outcomes and treatment resistance. This review examines CIN's impact on gliomas through a narrative approach, analyzing data from PubMed/Medline, EMBASE, the Cochrane Library, and Scopus. It highlights CIN's role across glioma subtypes, from adult glioblastomas and astrocytomas to pediatric oligodendrogliomas and astrocytomas. Key findings include CIN's effect on tumor heterogeneity and its potential as a biomarker for early detection and monitoring. Emerging therapies targeting CIN, such as those modulating tumor mutation burden and DNA damage response pathways, show promise but face challenges. The review underscores the need for integrated therapeutic strategies and improved bioinformatics tools like CINdex to advance understanding and treatment of gliomas. Future research should focus on combining CIN-targeted therapies with immune modulation and personalized medicine to enhance patient outcomes.</p>","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11373396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of the lncRNA/Wnt signaling pathway in digestive system cancer: a literature review.","authors":"Penghui Li, Xiao Ma, Di Huang","doi":"10.1186/s40001-024-02033-w","DOIUrl":"10.1186/s40001-024-02033-w","url":null,"abstract":"<p><p>The long noncoding RNA (lncRNA)/Wingless (Wnt) axis is often dysregulated in digestive system tumors impacting critical cellular processes. Abnormal expression of specific Wnt-related lncRNAs such as LINC01606 (promotes motility), SLCO4A1-AS1 (promotes motility), and SH3BP5-AS1 (induces chemoresistance), plays a crucial role in these malignancies. These lncRNAs are promising targets for cancer diagnosis and therapy, offering new treatment perspectives. The lncRNAs, NEF and GASL1, differentially expressed in plasma show diagnostic potential for esophageal squamous cell carcinoma and gastric cancer, respectively. Additionally, Wnt pathway inhibitors like XAV-939 have demonstrated preclinical efficacy, underscoring their therapeutic potential. This review comprehensively analyzes the lncRNA/Wnt axis, highlighting its impact on cell proliferation, motility, and chemoresistance. By elucidating the complex molecular mechanisms of the lncRNA/Wnt axis, we aim to identify potential therapeutic targets for digestive system tumors to pave the way for the development of targeted treatment strategies.</p>","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11367813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of low-purine diet on the serum uric acid of gout patients in different clinical subtypes: a prospective cohort study.","authors":"Zhaoying Chen, Xiaomei Xue, Lidan Ma, Shizhe Zhou, Kelei Li, Can Wang, Wenyan Sun, Changgui Li, Ying Chen","doi":"10.1186/s40001-024-02012-1","DOIUrl":"10.1186/s40001-024-02012-1","url":null,"abstract":"<p><strong>Background: </strong>The pathogenic causes of primary gout include urate overproduction and/or renal or extra-renal urate underexcretion. The aim of this study was to evaluate the association of gout subtypes with the response to low-purine diet (LPD).</p><p><strong>Methods: </strong>This is a single-center prospective clinical study. Gout patients visiting from 2019 to 2022, from Shandong Gout Clinic Center at the Affiliated Hospital of Qingdao University, China, assigned to three groups according to clinical subtypes, were enrolled and all treated with 2-week low-purine diet. General characteristics, serum uric acid (sUA) and other clinical biochemical variables before and after the diet were evaluated.</p><p><strong>Results: </strong>A total of 626 gout patients (age 41.20 ± 13.41 years, male 98.0%) were included. Of these, 69 (11.0%) were overproduction type, 428 (68.37%) were underexcretion type, and 129 (20.61%) were combined type. Overall, there was a substantial decrease in sUA after a 2-week LPD (p < 0.001). In addition, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), serum alanine aminotransferase (ALT), serum aspartate aminotransferase (AST), serum triglycerides (TG), serum total cholesterol (TC), blood urea nitrogen (BUN) and serum creatinine (Scr) levels were lower than those at baseline (p < 0.05). On the other hand, there were significant differences in the reduction of sUA among different types, the rank order being overproduction type (- 88.81 ± 63.01 μmol/L) > combined type (- 65.22 ± 44.13 μmol/L) > underexcretion type (- 57.32 ± 61.19 μmol/L). After adjusting for age, BMI and baseline sUA and eGFR, there were still significant differences in the decline of serum uric acid among different types. Higher baseline sUA (95%CI - 0.285, - 0.191; p < 0.001) and BUN (95%CI - 6.751, - 0.602; p < 0.001) were correlated with greater decrease of sUA.</p><p><strong>Conclusions: </strong>Our findings support the protective role of low-purine diet on sUA levels in gout patients, especially overproduction type. Furthermore, LPD could exert a beneficial effect on gout patients' blood pressure, BMI, blood lipid, BUN and Scr levels. Trial registration Registered with ChiCTR, No. ChiCTR1900022981 at 06/05/2019.</p>","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ginsenoside Rh2 suppresses ferroptosis in ulcerative colitis by targeting specific protein 1 by upregulating microRNA-125a-5p.","authors":"Xun Zhao, WenQiang Yuan, LiuChan Yang, Fang Yan, DeJun Cui","doi":"10.1186/s40001-024-02025-w","DOIUrl":"10.1186/s40001-024-02025-w","url":null,"abstract":"<p><strong>Background: </strong>Worldwide, ulcerative colitis (UC) is becoming increasingly fast growing. Ginsenoside Rh2 has been reported to alleviate UC. However, the latent biological mechanism of Rh2 in the treatment of UC remains uncertain. In this study, the goal was to determine the therapeutic effect of Rh2 on dextran sulfate sodium (DSS)-induced UC.</p><p><strong>Methods: </strong>A DSS-induced UC mouse model was established and divided into 7 groups for Rh2 gavage and/or miR-125a-5p lentivirus injection (n = 10 per group). Colonic specimens were collected for phenotypic and pathological analysis. miR-125a-5p and specific protein 1 (SP1) expression, inflammation-related factors IL-6 and IL-10, and apoptosis were detected in mice. Human normal colon epithelial cell line NCM460 was treated with H₂O₂ and ferric chloride hexahydrate to construct an in vitro cell model of colitis and induce ferroptosis. Independent sample t-test was used to compare cell proliferation, cell entry, apoptosis, and oxidative stress between the two groups. One way analysis of variance combined with the least significant difference t test was used for comparison between groups. Multiple time points were compared by repeated measurement analysis of variance.</p><p><strong>Results: </strong>DSS-induced UC mice had significantly decreased body weight, increased disease activity index, decreased colon length, and decreased miR-125a-5p expression (all P < 0.05). In the DSS-induced mouse model, the expression of miR-125a-5p rebounded and ferroptosis was inhibited after Rh2 treatment (all P < 0.05). Inhibition of miR-125a-5p or upregulation of SP1 expression counteracted the protective effects of Rh2 on UC mice and ferroptosis cell models (all P < 0.05).</p><p><strong>Conclusions: </strong>Rh2 mitigated DSS-induced colitis in mice and restrained ferroptosis by targeting miR-125a-5p. Downregulating miR-125a-5p or elevating SP1 could counteract the protective impacts of Rh2 on ferroptotic cells. The findings convey that Rh2 has a latent application value in the treatment of UC.</p>","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia.","authors":"Jing-Ying Zhang, Chun-Rong Chen, Jia-Yue Qin, Di-Ying Shen, Li-Xia Liu, Hua Song, Tian Xia, Wei-Qun Xu, Yan Wang, Feng Zhu, Mei-Xin Fang, He-Ping Shen, Chan Liao, Ao Dong, Shan-Bo Cao, Yong-Min Tang, Xiao-Jun Xu","doi":"10.1186/s40001-024-02042-9","DOIUrl":"10.1186/s40001-024-02042-9","url":null,"abstract":"<p><strong>Background: </strong>NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important.</p><p><strong>Methods: </strong>Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML.</p><p><strong>Results: </strong>Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P < 0.001 and P = 0.001, respectively). Multivariate Cox regression analyses demonstrated that patients harboring NUP98-r (P < 0.001) and WT1 mutations (P = 0.030) had worse relapse-free survival, and patients harboring NUP98-r (P < 0.008) presented lower overall survival.</p><p><strong>Conclusions: </strong>These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients.</p>","PeriodicalId":11949,"journal":{"name":"European Journal of Medical Research","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}