摘要
1例伴有双微体同源基因2(murine double minute 2,MDM2)和细胞周期蛋白依赖性激酶4(cyclindependent kinase 4,CDK4)扩增的ZC3H7B::B细胞淋巴瘤6协同抑制蛋白(B-cell lymphoma 6 corepressor,BCOR)基因融合的高级别子宫内膜间质肉瘤患者,45岁,女,因经量增多伴血块行超声检查,发现子宫占位,肿块最大径为10.3 cm,行全子宫+双附件切除术。光镜下肿瘤组织在肌壁间呈浸润性生长,有细胞致密区和稀疏区,致密区细胞呈卵圆形或胖梭形,细胞呈中度异型,核分裂象约为14个/10 HPF(HPF为高倍镜视野);稀疏区瘤细胞呈梭形,轻至中度异型,间质富于黏液,核分裂象约为8个/10 HPF,可见多灶坏死。免疫组织化学染色示肿瘤细胞的细胞周期蛋白D1(cyclin D1)、细胞周期依赖性激酶抑制蛋白2A(cyclindependent kinase inhibitor 2A,CDKN2A,又称为P16)和富含AT序列结合蛋白2(special AT-rich sequence-binding protein 2,SATB2)呈弥漫表达,BCOR)呈弱阳性表达,急性淋巴母细胞白血病共同抗原(common acute lymphoblastic leukemia antigen,CALLA,又称CD10)呈部分阳性表达,肌源性标记的平滑肌肌动蛋白(smooth muscle actin,SMA)和高分子量钙调素结合蛋白(high molecular weight caldesmon,h-Caldesmon)呈少量阳性表达。荧光原位杂交和二代测序检测存在ZC3H7B::BCOR基因融合,并伴有MDM2和CDK4基因扩增。术后随访22个月患者死亡。此类患者有望能从MDM2/CDK4共抑制剂中获益。
We report a rare case of high-grade endometrial stromal sarcoma harboring a ZC3H7B::Bcell 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(hcaldesmon)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.
作者
车稳
李芹芹
罗方秀
方旭前
CHE Wen;LI Qinqin;LUO Fangxiu;FANG Xuqian(Department of Pathology,Ruijin Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200025,China)
出处
《临床与病理杂志》
2025年第2期239-247,共9页
Journal of Clinical and Pathological Research
