Dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma with loss of expression of SMARCA4:clinicopathological features analysis
Objective To investigate the clinicopathological characteristics of dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma(DDEC/UDEC)with loss of expression of SMARCA4.Methods A total of 10 cases with loss of expression of SMARCA4 were diagnosed at Fujian Cancer Hospital between January 2019 and December 2023.A retrospective analysis was conducted on the clinical characteristics,morphology,immunophenotype,molecular classification,and prognosis.Results(1)Clinical characteristics:among 10 cases of DDEC/UDEC with loss of expression of SMARCA4,the patients'age ranged from 48 to 65 years,with a median age of 56 years.Five cases were classified as International Federation of Gynecology and Obstetrics(FIGO)stages Ⅰ-Ⅱ,while the remaining five were categorized as stages Ⅲ-Ⅳ.(2)Pathological features:tumor cells exhibited poor cell adhesion,with common intravascular tumor emboli(8/10),occasional vacuolated nuclei(6/10),rhabdoid cells(4/10),and starry sky phenomenon formed by tissue cell phagocytosis apoptosis bodies or fragments(4/10).Six cases(6/10)showed loss of mismatch repair(MMR)protein expression,two cases(2/10)exhibited p53 mutant expression,and five cases(5/10)tested positive for programmed cell death ligand 1(PD-L1).(3)Molecular subtyping:molecular subtyping revealed POLEmut in 1 case(1/10),mismatch repair defiicient(MMR-d)in 5 cases(5/10),p53 abn in 1 case(1/10),and no specific molecular profile(NSMP)in 3 cases(3/10).(4)Prognosis:the follow-up period ranged from 7 to 42 months,with a median of 20 months.Five patients succumbed to the tumor,whereas the remaining five exhibited no recurrence during subsequent postoperative evaluations.The 2-year progression-free survival rates and overall survival rates were 58.3％and 52.5％,respectively.Conclusions Loss of expression of SMARCA4 occurs in approximately 1/5 of DDEC/UDEC,which presents with an aggressive clinical course and a poor prognosis.About half ofthem show MMR protein loss expression and PD-L1 positive expression,suggesting that there might be benefit from treatment with immune checkpoint inhibitors.
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维普
