摘要
目的 探讨SMARCA4缺失性子宫未分化肉瘤(SDUS)的临床病理特征、诊断、鉴别诊断及预后。方法 收集1例SDUS的临床资料,总结其组织病理学特征,对其进行免疫组织化学染色及分子检测,分析其临床病理特征,并复习相关文献。结果 患者女性,52岁,宫腔内见一最大径11.1 cm占位。镜下见肿瘤由弥漫分布的胞浆嗜酸的细胞组成,肿瘤细胞呈圆形或多边形,核仁明显,黏附性差,部分区域间质呈黏液样变并浸润子宫肌壁内。免疫表型:失表达BRG1,保留表达INI-1,p53野生型表达,vimentin部分表达、错配修复蛋白未见缺失,CKpan、CK8/18均阴性表达。分子检测:SMARCA4基因突变。结果SMARCA4缺失的子宫未分化肉瘤临床罕见,结合临床病理特征、免疫表型、分子特征有助于正确诊断。
Objective To explore the clinicopathological features, diagnosis, differential diagnosis and prognosis of SMARCA4-deficient undifferentiated uterine sarcoma(SDUS). Methods Clinical data of one case of SDUS were collected, histopathological features were summarized, immunohistochemical staining and molecular detection were performed to analyze its relationship with clinicopathological features and prognosis, and relevant literature was reviewed.Results The patient was a female, 52 years old, with vaginal bleeding with abdominal pain. MRI showed an occupying space with a maximum diameter of 11.1 cm in the uterine cavity. Microscopically, the tumor cells consisted of diffusely distributed cytoplasmic eosinophilic cells with round or polygonal shapes, obvious nuclei, poor adhesion, obvious heterogeneity, and some areas of interstitial mucinous degeneration and infiltration of the uterine myometrial wall. Immunophenotypically loss of expression of BRG1, preserved expression of INI-1, wild-type expression of p53, partial expression of vimentin. CKpan and CK8/18 were negatively expressed. Molecular detection showed mutations of the SMARCA4 gene. Conclusion SDUS is clinically rare, and the combination of clinicopathological features, immunophenotypes, and molecular features helps to make a correct diagnosis.
作者
张巍
陈洁
李文生
ZHANG Wei;CHEN Jie;LI Wen-sheng(Department of Pathology,Shaanxi Provincial People's Hospital,Xi'an 710068,China)
出处
《诊断病理学杂志》
2024年第5期400-404,共5页
Chinese Journal of Diagnostic Pathology
基金
陕西省自然科学基础研究计划(2021JQ-914)
陕西省人民医院科技人才支持计划“菁英人才”项目(2021JY-50)。
