Gadducci Angiolo, Multinu Francesco, De Vitis Luigi Antonio, Cosio Stefania, Carinelli Silvestro, Aletti Giovanni Damiano
Department of Clinical and Experimental Medicine, Division of Gynecology and Obstetrics, University of Pisa, Pisa, Italy.
Department of Gynecologic Surgery, IRCCS European Institute of Oncology, Milan, Italy.
Gynecol Oncol. 2023 Apr;171:95-105. doi: 10.1016/j.ygyno.2023.02.009. Epub 2023 Feb 24.
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.
子宫内膜间质肿瘤（EST）是一种子宫间叶组织肿瘤，在组织学上类似于功能正常的子宫内膜的间质。大多数EST是恶性肿瘤，分为低级别子宫内膜间质肉瘤（LG-ESS）、高级别子宫内膜间质肉瘤（HG-ESS）和未分化子宫肉瘤（UUS）。总体而言，EST是罕见的恶性肿瘤，年发病率约为每10万名女性中有0.30例，主要影响围绝经期或绝经后女性。在LG-ESS中发现的最常见基因改变是JAZF1-SUZ12重排，而t(10;17)(q23,p13)易位和BCOR基因异常是HG-ESS的两种主要亚型的特征。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。不进行粉碎术的全子宫切除术和双侧输卵管卵巢切除术（BSO）是早期LG-ESS的一线治疗方法。在某些特定情况下，保留卵巢、保留生育功能的治疗以及辅助激素治疗±放疗可能是一种选择。对于晚期或复发性LG-ESS，手术减瘤后进行激素治疗，或反之，都是可接受的治疗方法。对于明显早期的HG-ESS和UUS，标准治疗方法是不进行粉碎术的全子宫切除术加BSO。保留卵巢和辅助化疗±放疗可能是一种选择。对于晚期或复发性HG-ESS，可以考虑手术减瘤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方法正在研究中。LG-ESS是惰性肿瘤，5年总生存率（OS）为80-100%，三分之二的患者在诊断时为I-II期。HG-ESS预后较差，中位OS为11至24个月，70%的患者在就诊时为III-IV期。UUS的中位OS为12至23个月，在诊断时，70% 的患者为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。
