临床与病理杂志2025，Vol.45Issue(2)：239-247,9.DOI:10.11817/j.issn.2095-6959.2025.240506
伴有MDM2和CDK4基因扩增的ZC3H7B::BCOR基因融合的高级别子宫内膜间质肉瘤1例并文献复习
High-grade endometrial stromal sarcoma with ZC3H7B::BCOR gene fusion and concurrent MDM2 and CDK4 amplification:A case report and literature review
车稳 1李芹芹 1罗方秀 1方旭前1
作者信息
- 1. 上海交通大学医学院附属瑞金医院病理科,上海 200025
- 折叠
摘要
Abstract
We report a rare case of high-grade endometrial stromal sarcoma harboring a ZC3H7B::B-cell lymphoma 6 corepressor(BCOR)gene fusion with concurrent amplification of murine double minute 2(MDM2)and cyclin-dependent kinase 4(CDK4).The patient was a 45-year-old woman who presented with menorrhagia and blood clots.Pelvic ultrasound revealed a uterine mass measuring 10.3 cm at its greatest dimension.The patient underwent total hysterectomy with bilateral salpingo-oophorectomy.Histologically,the tumor showed infiltrative growth within the myometrium,consisting of alternating hypercellular and hypocellular areas.The hypercellular areas contained oval to plump spindle cells with moderate atypia and a mitotic rate of approximately 14 per 10 high-power fields(HPF),while the hypocellular areas showed spindle cells with mild to moderate atypia in a myxoid stroma,with a mitotic rate of about 8/10 HPF and multifocal necrosis.Immunohistochemistry revealed diffuse positivity for cyclin D1,cyclindependent kinase inhibitor 2A(P16),and special AT-rich sequence-binding protein 2(SATB2).BCOR showed weak positivity,and common acute lymphoblastic leukemia antigen(CD10)was partially positive.Smooth muscle actin(SMA)and high molecular weight caldesmon(h-caldesmon)were focally positive.Fluorescence in situ hybridization and next-generation sequencing confirmed the presence of the ZC3H7B::BCOR fusion and concurrent amplification of MDM2 and CDK4.The patient died at 22 months postoperatively.This case suggests that patients with this molecular profile may benefit from dual MDM2/CDK4 inhibitors.关键词
ZC3H7B::BCOR基因融合/高级别子宫内膜间质肉瘤/MDM2和CDK4基因扩增/MDM2-P53相互作用/MDM2/CDK4抑制剂Key words
ZC3H7B::BCOR gene fusion/high-grade endometrial stromal sarcoma/MDM2 and CDK4 amplification/interaction between MDM2 and P53/MDM2/CDK4 inhibitor引用本文复制引用
车稳,李芹芹,罗方秀,方旭前..伴有MDM2和CDK4基因扩增的ZC3H7B::BCOR基因融合的高级别子宫内膜间质肉瘤1例并文献复习[J].临床与病理杂志,2025,45(2):239-247,9.
