Uterine leiomyomas (ULM) and uterine leiomyosarcomas (ULMS) represent smooth muscle tumors with similar initial presentations but drastically different outcomes. This literature review analyzes the similarities and differences in their epigenetic profiles to identify diagnostic biomarkers and potential therapeutic targets that could improve clinical management. Both tumor types exhibit mostly distinct epigenetic signatures while sharing key pathway dysregulations. ULMS demonstrates global DNA hypomethylation, increased histone acetyltransferase activity, elevated Histone Deacetylase (HDAC) class I expression, and characteristic microRNA profiles. ULM displays focal methylation patterns and specific microRNA alterations that promote extracellular matrix accumulation. Despite these differences in epigenetic mechanisms, both tumors converge on dysregulation of signaling pathways including PI3K/AKT/mTOR, Wnt/β-catenin, and Transforming Growth Factor beta (TGF-β) signaling, suggesting common downstream effects from distinct epigenetic origins. Understanding the shared and distinct epigenetic landscape between ULM and ULMS will enhance our insights into tumor pathogenesis and may offer promising biomarkers and therapeutic targets.
子宫平滑肌瘤（ULM）与子宫平滑肌肉瘤（ULMS）是临床表现初期相似但预后截然不同的平滑肌肿瘤。本文献综述通过分析两者表观遗传特征的异同，旨在寻找可改善临床管理的诊断生物标志物及潜在治疗靶点。两种肿瘤类型虽共享关键通路失调，但多数表观遗传特征存在显著差异。ULMS表现为整体DNA低甲基化、组蛋白乙酰转移酶活性增强、I类组蛋白去乙酰化酶（HDAC）表达升高以及特征性微小RNA谱；而ULM则呈现局灶性甲基化模式及促进细胞外基质积聚的特异性微小RNA改变。尽管表观遗传机制存在差异，两种肿瘤均出现PI3K/AKT/mTOR、Wnt/β-catenin及转化生长因子β（TGF-β）等信号通路的共同失调，提示不同表观遗传起源可能产生相似的下游效应。深入理解ULM与ULMS之间表观遗传特征的共性与差异，将深化我们对肿瘤发病机制的认识，并为开发新型生物标志物和治疗靶点提供新方向。
Decoding the Epigenome: Comparative Analysis of Uterine Leiomyosarcoma and Leiomyoma
肿瘤(癌症)患者之家