METHODS: A 59-year-old female underwent biopsy for post-menopausal bleeding, yielding a diagnosis of \"low-grade spindle cell neoplasm with myxoid stroma and endometrial glands\", favouring endometrial stromal sarcoma (ESS). She was then referred for total hysterectomy and bilateral salpingo-oophorectomy. The resected uterine neoplasm was both intracavitary and deeply myoinvasive with morphology consistent with that of the biopsy specimen. Characteristic immunohistochemistry (IHC) was noted, and fluorescence in situ hybridization confirmed BCOR rearrangement, supporting a diagnosis of BCOR HG-ESS. A few months postoperatively, the patient underwent needle core biopsy of the breast which revealed metastatic HG-ESS.
CONCLUSIONS: This case highlights some of the diagnostic challenges posed by uterine mesenchymal neoplasms, and exemplifies the emerging histomorphologic, immunohistochemical, molecular and clinicopathologic features of the recently described HG-ESS with ZC3H7B-BCOR fusion. It adds to the body of evidence supporting the inclusion of BCOR HG-ESS as a sub-entity of HG-ESS within the endometrial stromal and related tumours subcategory of uterine mesenchymal tumors, as well as the poor prognosis and high metastatic potential of this tumor.
方法:一名59岁女性因绝经后出血而接受活检,诊断为“具有粘液样基质和子宫内膜腺体的低度梭形细胞肿瘤”,有利于子宫内膜间质肉瘤(ESS)。然后,她被转诊为全子宫切除术和双侧附件卵巢切除术。切除的子宫肿瘤既是腔内的,也是深部的,形态与活检标本一致。注意到特征性免疫组织化学(IHC),荧光原位杂交证实了BCOR重排,支持BCORHG-ESS的诊断。术后几个月,患者接受了乳腺穿刺活检,发现转移性HG-ESS。
结论:该病例突出了子宫间充质肿瘤的一些诊断挑战,并举例说明了新兴的组织形态,免疫组织化学,最近描述的HG-ESS与ZC3H7B-BCOR融合的分子和临床病理特征。它增加了支持将BCORHG-ESS作为HG-ESS亚实体纳入子宫间充质肿瘤的子宫内膜间质和相关肿瘤亚类的证据。以及该肿瘤的不良预后和高转移潜力。