Mukherjee Pooja
Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA, United States.
Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, United States.
Front Glob Womens Health. 2025 Apr 22;6:1581823. doi: 10.3389/fgwh.2025.1581823. eCollection 2025.
Uterine fibroids (UFs) are the most common benign tumors of the female reproductive system, affecting 70%-80% of women by age 50. Early detection is challenging due to the absence of initial symptoms, and diagnosis primarily relies on ultrasound and magnetic resonance imaging (MRI). However, biomarker-driven approaches could enable earlier and more precise detection. This review explores emerging biomarkers and genetic factors in fibroid pathogenesis. Potential biomarkers, including and , show promise for diagnosis and recurrence prediction. Genetic studies have identified key mutations in and , alongside genome-wide association studies (GWAS) that highlight fibroid risk loci. Interestingly, biomarkers may also be mutation-type specific, suggesting potential for more precise molecular classification. Gene therapy offers an innovative treatment approach but the genetic landscape of fibroids remains underexplored, limiting advancements in research and funding. Integrating biomarker-based diagnostics and genetic profiling could transform fibroid detection and management, reducing reliance on invasive procedures. This review highlights the urgent need for improved diagnostic tools, prognostic markers, and targeted therapies for uterine fibroids.
子宫肌瘤（UFs）是女性生殖系统最常见的良性肿瘤，到50岁时，70%-80%的女性会受其影响。由于缺乏初始症状，早期检测具有挑战性，诊断主要依靠超声和磁共振成像（MRI）。然而，基于生物标志物的方法能够实现更早、更精确的检测。本综述探讨了子宫肌瘤发病机制中新兴的生物标志物和遗传因素。包括[具体生物标志物1]和[具体生物标志物2]在内的潜在生物标志物在诊断和复发预测方面显示出前景。遗传研究已经确定了[基因1]和[基因2]中的关键突变，同时全基因组关联研究（GWAS）也突出了子宫肌瘤风险位点。有趣的是，生物标志物可能也具有突变类型特异性，这表明更精确的分子分类具有潜力。基因治疗提供了一种创新的治疗方法，但子宫肌瘤的遗传情况仍未得到充分探索，限制了研究进展和资金投入。整合基于生物标志物的诊断和基因谱分析可以改变子宫肌瘤的检测和管理方式，减少对侵入性程序的依赖。本综述强调了迫切需要改进子宫肌瘤的诊断工具、预后标志物和靶向治疗方法。
