子宫平滑肌肉瘤（uLMS）是子宫肉瘤最常见的亚型。他们的预后较差，复发率和转移率高。 uLMS 患者的五年生存率为 25% 至 76%，初次诊断时患有转移性疾病的患者的生存率接近 10-15%。越来越多的证据表明，uLMS 发病机制涉及多种生物学途径。值得注意的是，阻断这些通路异常功能的药物可以显着提高 uLMS 患者的生存率。然而，由于化疗耐药，仍然需要能够有效靶向这些途径的新药物。在这篇综述文章中，我们从异常生物途径的角度概述了uLMS的生物学功能和调节机制的最新进展，包括DNA修复、免疫检查点阻断、蛋白激酶和细胞内信号传导途径以及hedgehog途径。我们回顾了表观遗传学和表观转录组在 uLMS 发病机制中的新作用。此外，我们还讨论了血清标志物、人工智能 (AI) 与机器学习相结合、剪切波弹性成像、当前的管理和医疗选择，以及针对 uLMS 患者正在进行的临床试验。对 uLMS 的病理学和潜在分子机制的全面、综合和更深入的了解将有助于开发治疗这种侵袭性肿瘤患者的新策略。

Uterine leiomyosarcoma (uLMS) is the most common subtype of uterine sarcomas. They have a poor prognosis with high rates of recurrence and metastasis. The five-year survival for uLMS patients is between 25 and 76%, with survival rates approaching 10-15% for patients with metastatic disease at the initial diagnosis. Accumulating evidence suggests that several biological pathways are involved in uLMS pathogenesis. Notably, drugs that block abnormal functions of these pathways remarkably improve survival in uLMS patients. However, due to chemotherapy resistance, there remains a need for novel drugs that can target these pathways effectively. In this review article, we provide an overview of the recent progress in ascertaining the biological functions and regulatory mechanisms in uLMS from the perspective of aberrant biological pathways, including DNA repair, immune checkpoint blockade, protein kinase and intracellular signaling pathways, and the hedgehog pathway. We review the emerging role of epigenetics and epitranscriptome in the pathogenesis of uLMS. In addition, we discuss serum markers, artificial intelligence (AI) combined with machine learning, shear wave elastography, current management and medical treatment options, and ongoing clinical trials for patients with uLMS. Comprehensive, integrated, and deeper insights into the pathobiology and underlying molecular mechanisms of uLMS will help develop novel strategies to treat patients with this aggressive tumor.