Department of Pathology and Laboratory Medicine (S.M., C.H.K., A.P.C.W., S.K.L.-T., K.T.E.C.) Department of Gynaecological Oncology (S.L.L., T.Y.K.L.), KK Women's and Children's Hospital Division of Medical Oncology, National Cancer Centre (R.Q.), Singapore, Singapore.
Int J Gynecol Pathol. 2019 Sep;38(5):420-425. doi: 10.1097/PGP.0000000000000523.
A 41-yr-old lady with abnormal uterine bleeding underwent total abdominal hysterectomy. Histologic assessment revealed an endometrial stromal sarcoma (ESS) with minimal cytologic atypia and low mitotic count (up to 7/10 high-power fields) with only focal myxoid areas, morphologically corresponding to a low-grade ESS. Immunohistochemical stains showed cyclin D1 and CD10 positivity, and negative staining for CD117 and progesterone receptor. This tumor was clinically aggressive and recurred 6 mo later. The patient died 19 mo following initial diagnosis. Molecular analysis revealed a ZC3H7B (exon 10)-BCOR (exon 7) gene fusion. Subsequent BCOR immunohistochemistry was weakly positive. ESS with ZC3H7B-BCOR gene fusion is classified as a low-grade ESS in some classification schemes, and is also characterized as being typically myxoid. This report supports emerging evidence that ESS with ZC3H7B-BCOR gene fusion may have an aggressive clinical course in spite of its low-grade histology. This report further expands the morphologic spectrum of ZC3H7B-BCOR fusion ESS to include nonmyxoid histology. Finally, this report underlines the value of molecular analysis in the proper classification of this aggressive tumor with deceptive low-grade histology.
一位 41 岁的女性因异常子宫出血接受了全子宫切除术。组织学评估显示为子宫内膜间质肉瘤（ESS），具有最小的细胞学异型性和低有丝分裂计数（最多 7/10 高倍视野），仅局灶黏液样区域，形态上对应于低级别 ESS。免疫组织化学染色显示 cyclin D1 和 CD10 阳性，CD117 和孕激素受体阴性。该肿瘤临床侵袭性强，6 个月后复发。患者在初次诊断后 19 个月死亡。分子分析显示 ZC3H7B（外显子 10）-BCOR（外显子 7）基因融合。随后的 BCOR 免疫组化弱阳性。具有 ZC3H7B-BCOR 基因融合的 ESS 在某些分类方案中被归类为低级别 ESS，其特征还通常为黏液样。本报告支持这样一种观点，即尽管具有低级别组织学，但具有 ZC3H7B-BCOR 基因融合的 ESS 可能具有侵袭性的临床病程。本报告进一步扩展了 ZC3H7B-BCOR 融合 ESS 的形态谱，包括非黏液样组织学。最后，本报告强调了分子分析在正确分类这种具有欺骗性的低级别组织学的侵袭性肿瘤中的价值。
