Deena Jalal, Mohamed Y Ali, Naglaa Elkinaai, Abdelaziz S Abdelaziz, Wael Zekri, Ahmed A Sayed
{"title":"甲基化变化和 INS-IGF2 表达可预测早期 Wilms 肿瘤的进展。","authors":"Deena Jalal, Mohamed Y Ali, Naglaa Elkinaai, Abdelaziz S Abdelaziz, Wael Zekri, Ahmed A Sayed","doi":"10.1186/s13148-024-01775-y","DOIUrl":null,"url":null,"abstract":"<p><p>Wilms tumor, the most common pediatric kidney cancer, accounts for 5% of childhood cancers and is classified by stage and histological subtype. Despite high survival rates (80-85%), approximately 15% of patients experience relapse, reducing survival to around 50%. Epigenetic changes, particularly DNA methylation, play a critical role in Wilms tumor pathogenesis. This study investigates the prognostic potential of DNA methylation in stage I and II patients with favorable histology, aiming to identify early relapse biomarkers. Genome-wide methylation was assessed using methylation microarrays in tumor tissues from relapsed patients (n = 9) and those with complete responses (n = 9), alongside normal tissues (n = 3 each). Differentially methylated probes and regions were analyzed, with additional ROC and survival analyses. Real-time PCR was used to measure IGF2 and INS-IGF2 gene expression. The analysis revealed hypomethylation in intergenic regions in remission patients, identifying 14 differentially methylated positions as potential biomarkers. Increased INS-IGF2 expression was associated with relapse, suggesting its role in disease progression. While the study concentrated on stages I and II patients, where relapse rates are lower, this focus inherently led to a smaller sample size. Despite this, the findings provide valuable insights into the potential role of DNA methylation markers for monitoring disease progression and guiding personalized treatment in Wilms tumor patients.</p>","PeriodicalId":10366,"journal":{"name":"Clinical Epigenetics","volume":"16 1","pages":"170"},"PeriodicalIF":4.8000,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Methylation changes and INS-IGF2 expression predict progression in early-stage Wilms tumor.\",\"authors\":\"Deena Jalal, Mohamed Y Ali, Naglaa Elkinaai, Abdelaziz S Abdelaziz, Wael Zekri, Ahmed A Sayed\",\"doi\":\"10.1186/s13148-024-01775-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Wilms tumor, the most common pediatric kidney cancer, accounts for 5% of childhood cancers and is classified by stage and histological subtype. Despite high survival rates (80-85%), approximately 15% of patients experience relapse, reducing survival to around 50%. Epigenetic changes, particularly DNA methylation, play a critical role in Wilms tumor pathogenesis. This study investigates the prognostic potential of DNA methylation in stage I and II patients with favorable histology, aiming to identify early relapse biomarkers. Genome-wide methylation was assessed using methylation microarrays in tumor tissues from relapsed patients (n = 9) and those with complete responses (n = 9), alongside normal tissues (n = 3 each). Differentially methylated probes and regions were analyzed, with additional ROC and survival analyses. Real-time PCR was used to measure IGF2 and INS-IGF2 gene expression. The analysis revealed hypomethylation in intergenic regions in remission patients, identifying 14 differentially methylated positions as potential biomarkers. Increased INS-IGF2 expression was associated with relapse, suggesting its role in disease progression. While the study concentrated on stages I and II patients, where relapse rates are lower, this focus inherently led to a smaller sample size. Despite this, the findings provide valuable insights into the potential role of DNA methylation markers for monitoring disease progression and guiding personalized treatment in Wilms tumor patients.</p>\",\"PeriodicalId\":10366,\"journal\":{\"name\":\"Clinical Epigenetics\",\"volume\":\"16 1\",\"pages\":\"170\"},\"PeriodicalIF\":4.8000,\"publicationDate\":\"2024-11-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Epigenetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13148-024-01775-y\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Epigenetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13148-024-01775-y","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
Wilms 肿瘤是最常见的儿童肾癌,占儿童癌症的 5%,按分期和组织学亚型分类。尽管存活率很高(80%-85%),但约有 15%的患者会复发,使存活率降至 50%左右。表观遗传学变化,尤其是 DNA 甲基化,在 Wilms 肿瘤发病机制中起着至关重要的作用。本研究调查了组织学良好的 I 期和 II 期患者 DNA 甲基化的预后潜力,旨在确定早期复发的生物标志物。使用甲基化芯片对复发患者(9 人)和完全缓解患者(9 人)的肿瘤组织以及正常组织(各 3 人)进行了全基因组甲基化评估。对差异甲基化探针和区域进行了分析,并进行了额外的 ROC 和生存分析。实时 PCR 被用于测量 IGF2 和 INS-IGF2 基因的表达。分析结果显示,缓解期患者基因间区域存在低甲基化,并确定了 14 个不同甲基化位置作为潜在的生物标志物。INS-IGF2表达的增加与复发有关,表明其在疾病进展中的作用。虽然研究集中于复发率较低的I期和II期患者,但这一重点必然导致样本量较小。尽管如此,研究结果还是为 DNA 甲基化标记物在监测疾病进展和指导 Wilms 肿瘤患者个性化治疗方面的潜在作用提供了有价值的见解。
Methylation changes and INS-IGF2 expression predict progression in early-stage Wilms tumor.
Wilms tumor, the most common pediatric kidney cancer, accounts for 5% of childhood cancers and is classified by stage and histological subtype. Despite high survival rates (80-85%), approximately 15% of patients experience relapse, reducing survival to around 50%. Epigenetic changes, particularly DNA methylation, play a critical role in Wilms tumor pathogenesis. This study investigates the prognostic potential of DNA methylation in stage I and II patients with favorable histology, aiming to identify early relapse biomarkers. Genome-wide methylation was assessed using methylation microarrays in tumor tissues from relapsed patients (n = 9) and those with complete responses (n = 9), alongside normal tissues (n = 3 each). Differentially methylated probes and regions were analyzed, with additional ROC and survival analyses. Real-time PCR was used to measure IGF2 and INS-IGF2 gene expression. The analysis revealed hypomethylation in intergenic regions in remission patients, identifying 14 differentially methylated positions as potential biomarkers. Increased INS-IGF2 expression was associated with relapse, suggesting its role in disease progression. While the study concentrated on stages I and II patients, where relapse rates are lower, this focus inherently led to a smaller sample size. Despite this, the findings provide valuable insights into the potential role of DNA methylation markers for monitoring disease progression and guiding personalized treatment in Wilms tumor patients.
期刊介绍:
Clinical Epigenetics, the official journal of the Clinical Epigenetics Society, is an open access, peer-reviewed journal that encompasses all aspects of epigenetic principles and mechanisms in relation to human disease, diagnosis and therapy. Clinical trials and research in disease model organisms are particularly welcome.