摘要
目的探讨SMARCA4(是SWI/SNF染色质重塑复合物中的核心催化亚基)蛋白表达缺失性子宫内膜去分化癌/未分化癌(DDEC/UDEC)的临床病理特征。方法收集2019年1月至2023年12月在福建省肿瘤医院确诊的DDEC/UDEC患者共48例,其中SMARCA4蛋白表达缺失性DDEC/UDEC患者10例,分析其临床和病理特征(形态学、免疫表型)、分子分型及预后。结果(1)临床特征:10例SMARCA4蛋白表达缺失性DDEC/UDEC患者的中位年龄为56岁(范围:48~65岁),国际妇产科联盟(FIGO)分期Ⅰ~Ⅱ期和Ⅲ~Ⅳ期各5例。(2)病理特征:肿瘤细胞黏附性差,常见脉管内癌栓(8/10),部分可见泡状核细胞(6/10)、横纹肌样细胞(4/10)及组织细胞吞噬凋亡小体或碎片形成的星空现象(4/10);6例(6/10)错配修复(MMR)蛋白表达缺失,2例(2/10)p53蛋白突变型表达,5例(5/10)细胞程序性死亡配体1(PD-L1)阳性表达。(3)分子分型:10例患者中,POLE突变(POLEmut)型1例(1/10),错配修复缺陷(MMR-d)型5例(5/10),p53异常型1例(1/10),无特异性分子改变(NSMP)型3例(3/10)。(4)预后:10例患者的中位随访时间20个月(范围:7~42个月),随访期内5例(5/10)因肿瘤进展、多发转移死亡,其余5例(5/10)术后定期复查,未见复发征象。2年无进展生存率和总生存率分别为58.3%和52.5%。结论SMARCA4蛋白表达缺失见于约1/5的DDEC/UDEC患者,具有较高的侵袭性,预后较差。SMARCA4蛋白表达缺失性DDEC/UDEC患者中,约半数存在MMR蛋白表达缺失和PD-L1蛋白阳性表达,提示其可能会从免疫检查点抑制剂治疗中获益。
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)stagesⅠ-Ⅱ,while the remaining five were categorized as stagesⅢ-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 deficient(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 of them show MMR protein loss expression and PD-L1 positive expression,suggesting that the
作者
刘伟
师怡
王晓江
崔艳梅
何同梅
柳景成
朱伟峰
徐沁
胡丹
Liu Wei;Shi Yi;Wang Xiaojiang;Cui Yanmei;He Tongmei;Liu Jingcheng;Zhu Weifeng;Xu Qin;Hu Dan(Department of Pathology,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou 350014,China;Department of Molecular Pathology Laboratory,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou 350014,China;Department of Pathology,People′s Hospital Affiliated to Fujian University of Traditional Chinese Medicine,Fuzhou 350004,China;Department of Gynecology,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou 350014,China)
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2024年第11期856-863,共8页
Chinese Journal of Obstetrics and Gynecology
基金
福建省卫生健康科技计划(2023CXA037)
福建省科技创新联合资金项目(2023Y9436)。
