Endometrial cancer (EC), a prevalent gynecological malignancy, presents significant challenges due to its genetic complexity and heterogeneity. The genomic landscape of EC is underpinned by genetic alterations, such as mutations in PTEN, PIK3CA, and ARID1A, and chromosomal abnormalities. The identification of molecular subtypes—POLE ultramutated, microsatellite instability (MSI), copy number low, and copy number high—illustrates the diverse genetic profiles within EC and underscores the need for subtype-specific therapeutic strategies. The integration of multi-omics technologies such as single-cell genomics and spatial transcriptomics has revolutionized our understanding and approach to studying EC and offers a holistic perspective that enhances the ability to identify novel biomarkers and therapeutic targets. The translation of these multi-omics findings into personalized medicine and precision oncology is increasingly feasible in clinical practice. Targeted therapies such as PI3K/AKT/mTOR inhibitors have demonstrated the potential for improved treatment efficacy tailored to specific genetic alterations. Despite these advancements, challenges persist in terms of variability in patient responses, the integration of genomic data into clinical workflows, and ethical considerations. This review explores the genomic underpinnings of EC, from genes to clinical practice. It highlights the ongoing need for multidisciplinary research and collaboration to address the complexities of EC and improve diagnosis, treatment, and patient outcomes.
子宫内膜癌（EC）作为一种常见的妇科恶性肿瘤，因其遗传复杂性和异质性而面临重大挑战。其基因组特征主要由PTEN、PI3KCA和ARID1A等基因突变及染色体异常构成。分子亚型的识别——包括POLE超突变型、微卫星不稳定型、拷贝数低型和拷贝数高型——揭示了EC内部多样的遗传特征，并强调了针对亚型特异性治疗策略的必要性。单细胞基因组学与空间转录组学等多组学技术的整合，彻底改变了我们对EC的研究理解与方法，提供了整体性视角，从而增强了识别新型生物标志物和治疗靶点的能力。将这些多组学发现转化为个性化医疗和精准肿瘤学在临床实践中日益可行。针对特定遗传改变的靶向治疗，如PI3K/AKT/mTOR抑制剂，已显示出提升治疗效果的潜力。尽管取得这些进展，但在患者反应差异性、基因组数据融入临床工作流程以及伦理考量等方面仍存在挑战。本综述从基因到临床实践探讨了EC的基因组学基础，强调需要持续开展多学科研究与协作，以应对EC的复杂性，改善诊断、治疗及患者预后。
From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer
肿瘤(癌症)患者之家