Travaglino Antonio, Arciuolo Damiano, Ronchi Susanna, Raffone Antonio, Giovannoni Isabella, Barresi Sabina, Casarin Jvan, Zannoni Gian Franco, Alaggio Rita, La Rosa Stefano
Pathology Unit, Department of Oncology, ASST Sette Laghi, Varese, Italy.
Department of Medicine and Technological Innovation, University of Insubria, Varese, Italy.
Virchows Arch. 2025 May 14. doi: 10.1007/s00428-025-04127-0.
Endometrial stromal tumors with whorling and CTNNB1 rearrangement (ESTW-CTNNB1) are recently described gynecological mesenchymal neoplasms with unique clinicopathological and molecular features. To date, only four of these tumors have been reported. Herein, we describe a case of ESTW-CTNNB1 in a 67-year-old woman. The tumor measured 10 cm and had well-defined margins. On histology, the neoplasm was mostly composed of whorls of epithelioid cells immersed in a loose fibroblastic background, with a delicate vasculature and focal sex cord-like pattern. Tumor cells were mildly atypical, and mitotic index was < 1/10HPF. The tumor showed areas of ischemic necrosis and hydropic changes; no coagulative tumor cell necrosis was observed. On immunohistochemistry, tumor cells were diffusely positive for β-catenin (nuclear), CD10, WT1, calretinin, SATB2, estrogen, and progesterone receptor and negative for CDX2, CK8/18, and p63, with Ki67 = 10%. Molecular analysis revealed a GREB1::CTNNB1 fusion. In conclusion, we reported we 5th case of ESTW-CTNNB1, confirming the previously described features and highlighting positivity for SATB2.
具有漩涡状结构和CTNNB1重排的子宫内膜间质瘤（ESTW-CTNNB1）是最近报道的具有独特临床病理和分子特征的妇科间质性肿瘤。迄今为止，仅报道过4例此类肿瘤。在此，我们描述1例67岁女性的ESTW-CTNNB1病例。肿瘤大小为10 cm，边界清晰。组织学上，肿瘤主要由沉浸在疏松成纤维细胞背景中的上皮样细胞漩涡组成，有纤细的脉管系统和局灶性性索样结构。肿瘤细胞轻度异型，有丝分裂指数<1/10HPF。肿瘤可见缺血性坏死和水肿改变区域；未观察到凝固性肿瘤细胞坏死。免疫组化显示，肿瘤细胞β-连环蛋白（核）、CD10、WT1、钙视网膜蛋白、SATB2、雌激素和孕激素受体弥漫阳性，CDX2、CK8/18和p63阴性，Ki67=10%。分子分析显示GREB1::CTNNB1融合。总之，我们报道了第5例ESTW-CTNNB1病例，证实了先前描述的特征并突出了SATB2的阳性表达。
