SMARCA4-deficient undifferentiated sarcoma of the uterine:report of a case and review of literatures
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 IN1-1,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.
Undifferentiated sarcomaUterineSMARCA4SWI/SNFUndifferentiated and dedifferentiated endometrial carcinoma