内膜间质肿瘤（EST）是子宫间质性肿瘤，组织学上类似于功能性内膜的内膜间质。EST的大多数为恶性肿瘤，分为低级别内膜间质肉瘤（LG-ESS）、高级别内膜间质肉瘤（HG-ESS）和未分化子宫肉瘤（UUS）。总体来说，EST是罕见的恶性肿瘤，每年发病率约为每十万妇女0.30例，主要影响围绝经期或绝经后的女性。LG-ESS中最常见的基因改变是JAZF1-SUZ12重排，而t(10;17)(q23,p13)易位和BCOR基因异常则表征了HG-ESS的两个主要亚型。缺乏特定的基因异常是UUS的实际标志。与HG-ESS不同，LG-ESS通常表达雌激素和孕激素受体。早期LG-ESS的一线治疗是全子宫切除术和双侧输卵管、卵巢切除术（BSO）。在选择的情况下，可以考虑卵巢保留、保育生育治疗以及辅助激素治疗±放疗。在晚期或复发LG-ESS中，手术细胞减容随后进行激素治疗或反之亦可接受。明显早期的HG-ESS和UUS的标准治疗是全子宫切除术和双侧输卵管、卵巢切除术。卵巢保留和辅助化疗±放疗可能是一种选择。在晚期或复发HG-ESS中，可以考虑手术细胞减容和新辅助或辅助化疗。包括生物制剂和免疫治疗在内的替代治疗正在研究中。LG-ESS是一种缓慢进展的肿瘤，在诊断时有三分之二的患者处于I-II期，5年总生存率（OS）为80-100％。 HG-ESS具有不良预后，中位OS为11-24个月，在70％的患者中处于III-IV期。UUS的中位OS范围为12-23个月，在诊断时，70％的患者处于III-IV期。本综述的目的是评估恶性EST的临床、病理和生物学特征以及治疗选择。 版权所有©2023 Elsevier Inc.

Endometrial stromal tumors (EST) are uterine mesenchymal tumors, which histologically resemble endometrial stroma of the functioning endometrium. The majority of EST are malignant tumors classified as low-grade endometrial stromal sarcoma (LG-ESS), high-grade endometrial stromal sarcoma (HG-ESS), and undifferentiated uterine sarcoma (UUS). Overall, ESTs are rare malignancies, with an annual incidence of approximately 0.30 per 100'000 women, mainly affecting peri- or postmenopausal women. The most common genetic alteration identified in LG-ESS is the JAZF1-SUZ12 rearrangement, while t(10;17)(q23,p13) translocation and BCOR gene abnormalities characterize two major subtypes of HG-ESS. The absence of specific genetic abnormalities is the actual hallmark of UUS. Unlike HG-ESSs, LG-ESSs usually express estrogen and progesterone receptors. Total hysterectomy without morcellation and bilateral salpingo-oophorectomy (BSO) is the first-line treatment of early-stage LG-ESS. Ovarian preservation, fertility-sparing treatment, and adjuvant hormonal therapy ± radiotherapy may be an option in selected cases. In advanced or recurrent LG-ESS, surgical cytoreduction followed by hormonal treatment, or vice versa, are acceptable treatments. The standard treatment for apparently early-stage HG-ESS and UUS is total hysterectomy without morcellation with BSO. Ovarian preservation and adjuvant chemotherapy ± radiotherapy may be an option. In advanced or recurrent HG-ESS, surgical cytoreduction and neoadjuvant or adjuvant chemotherapy can be considered. Alternative treatments, including biological agents and immunotherapy, are under investigation. LG-ESSs are indolent tumor with a 5-year overall survival (OS) of 80-100% and present as stage I-II at diagnosis in two third of patients. HG-ESSs carry a poor prognosis, with a median OS ranging from 11 to 24 months, and 70% of patients are in stage III-IV at presentation. UUS median OS ranges from 12 to 23 months and, at diagnosis, 70% of patients are in stage III-IV. The aim of this review is to assess the clinical, pathological, and biological features and the therapeutic options for malignant ESTs.Copyright © 2023 Elsevier Inc. All rights reserved.