Endometrial stromal sarcoma (ESS) is a rare malignant tumor of uterine mesenchyme, accounting for 15–20% of uterine sarcomas. It is classified into low-grade (LG-ESS) and high-grade (HG-ESS) subtypes, each defined by distinct histopathological and molecular features. LG-ESS exhibits slow progression, resembling proliferative-phase endometrial stroma, with genetic alterations like JAZF1-SUZ12 fusions. HG-ESS is more aggressive, characterized by high mitotic activity, necrosis, and genetic markers such as BCOR internal tandem duplication, often leading to advanced-stage diagnosis. Surgical resection is the cornerstone for managing early-stage ESS. A total hysterectomy with bilateral salpingo-oophorectomy (BSO) is recommended to prevent recurrence. Fertility-preserving approaches may be considered in LG-ESS but are associated with high recurrence rates. Lymphadenectomy is not routinely performed, given its limited prognostic value. HG-ESS, due to its aggressiveness, often requires additional treatment, including chemotherapy. Adjuvant therapy varies by subtype. LG-ESS responds well to hormonal treatments such as aromatase inhibitors and progestins, while tamoxifen is contraindicated. HG-ESS, lacking hormonal receptor expression, is managed with chemotherapy, often incorporating doxorubicin-based regimens. Radiotherapy may improve local control in select cases but shows limited impact on overall survival. Advanced-stage ESS treatment focuses on complete cytoreduction, supplemented by systemic therapies. Hormonal therapy remains the standard for advanced LG-ESS, whereas HG-ESS relies on chemotherapy. Prognosis depends on the subtype and stage. LG-ESS has favorable outcomes, with five-year survival exceeding 90% in early stages, but recurrent disease remains common. HG-ESS is associated with poorer survival due to its aggressive nature. Advances in molecular profiling offer promising avenues for personalized therapies, integrating genomic insights with targeted treatments to improve outcomes in this rare malignancy.
子宫内膜间质肉瘤（ESS）是一种罕见的子宫间叶组织恶性肿瘤，占子宫肉瘤的15%-20%。根据组织病理学及分子特征差异，可分为低级别（LG-ESS）与高级别（HG-ESS）两种亚型。LG-ESS进展缓慢，形态类似增殖期子宫内膜间质，常伴有JAZF1-SUZ12基因融合等遗传学改变；HG-ESS侵袭性更强，以高核分裂活性、坏死为特征，多存在BCOR基因内部串联重复等分子标记，确诊时多已进展至晚期。 手术切除是早期ESS治疗的基石。推荐全子宫切除联合双侧附件切除术以降低复发风险。LG-ESS患者可考虑保留生育功能的手术方案，但复发率较高。淋巴结清扫术因预后价值有限，不作为常规操作。HG-ESS因侵袭性强，常需联合化疗等辅助治疗。 辅助治疗方案因亚型而异：LG-ESS对芳香化酶抑制剂、孕激素等激素治疗反应良好，但禁用他莫昔芬；HG-ESS缺乏激素受体表达，主要采用以多柔比星为基础的化疗方案。放疗在特定病例中可增强局部控制，但对总生存期的改善有限。 晚期ESS治疗以肿瘤细胞减灭术为主，联合全身性治疗。晚期LG-ESS仍以激素治疗为标准方案，而HG-ESS则依赖化疗。预后与亚型及分期密切相关：LG-ESS早期五年生存率超90%，但复发仍较常见；HG-ESS因侵袭性强，生存率显著降低。分子谱分析技术的进展为个体化治疗提供了新方向，通过基因组学特征与靶向治疗的结合，有望改善这一罕见恶性肿瘤的临床结局。
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