SMARCA4缺失性未分化子宫肉瘤1例报告并文献复习  

SMARCA4-deficient undifferentiated uterine sarcoma:one case report and review of the literature

作　　者：卢碧燕 朱莹 禤文婷 罗海波[2] 黄素然[2] 李仲均[2,3] LU Bi-yan;ZHU Ying;XUAN Wen-ting;LUO Hai-bo;HUANG Su-ran;LI Zhong-jun(Department of Basic Medicine,Dongguan Polytechnic,Dongguan 523808,China;The Tenth Affiliated Hospital,Southern Medical University,Dongguan 523059,China;Dongguan Key Laboratory of Major Diseases in Obstetrics and Gynecology,Dongguan 523000,China)

机构地区：[1]东莞职业技术学院基础医学教研室,广东东莞523808 [2]南方医科大学第十附属医院,广东东莞523059 [3]东莞市妇产科重大疾病重点实验室,广东东莞523000

出　　处：《中国实用妇科与产科杂志》2024年第8期845-848,共4页Chinese Journal of Practical Gynecology and Obstetrics

基　　金：国家自然科学基金(82103269);广东省科技厅粤莞联合基金(2022A1515140168);广东省医学科研基金(C2023114、C2022125);东莞市社会科技重点项目(20231800935872);东莞松山湖大科学装置散裂中子源开放课题(KFKT2022B01)。

摘　　要：目的 探讨SMARCA4缺失性未分化子宫肉瘤的临床病理特点、诊断、治疗及预后。方法 回顾分析南方医科大学第十附属医院2023年11月20日收治的1例SMARCA4缺失性未分化子宫肉瘤的临床病理资料,系统检索PubMed、Medline、中国知网、中国生物医学文献数据库,对相关文献进行分析和总结。结果 患者30岁,因发现子宫肿物3个月余入院,行全子宫+双侧输卵管切除术,术后病理证实为SMARCA4缺失性未分化子宫肉瘤。经文献检索,目前国内外仅有35例SMARCA4缺失性未分化子宫肉瘤报道。患者年龄范围24~70(43.03±11.97)岁,临床症状多表现为阴道流血。23例可查阅到治疗方式,以全子宫+双侧附件切除为主。15例有随访资料,其中11例死亡,中位生存时间仅6个月。结论 SMARCA4缺失性未分化子宫肉瘤是一种新近认识的子宫恶性间叶源性肿瘤亚型,恶性程度较高,临床上应予以重视。Objective To investigate the clinicopathological features,diagnosis,treatment and prognosis of SMARCA4-deficient undifferentiated uterine sarcoma.Methods A case of SMARCA4-deficient undifferentiated uterine sarcoma at the Tenth Affiliated Hospital of Southern Medical University on November 20,2023 was analyzed retrospectively.A sys-tematic search was performed to identify articles investigating SMARCA4-deficient undifferentiated uterine sarcoma from PubMed,Medline,CNKI and Chinese biomedical literature database,and the related literatures were analyzed and summarized.Results A 30-year-old patient came to our hospital with uterine mass for more than 3 months.She under-went total hysterectomy and bilateral salpingectomy.Postoperative pathology confirmed the diagnosis of SMARCA4-defi-cient undifferentiated uterine sarcoma.To date only 35 cases of SMARCA4-deficient undifferentiated uterine sarcoma have been reported worldwide.The age of patients ranged from 24 to 70(43.03±11.97)years.Most of them presented with vaginal bleeding.Treatment methods were recorded in 23 cases,21 of them underwent total hysterectomy and bilat-eral salpingo-oophorectomy.Follow-up was available for 15,of whom 11 died and with the median survival time was on-ly 6 months.Conclusion SMARCA4-deficient undifferentiated uterine sarcoma is a newly recognized aggressive sub-type of uterine sarcoma with high malignancy,and should be paid more attention to during clinical practice.

关 键 词：SMARCA4缺失 子宫肉瘤 临床病理特征 治疗 预后 

分 类 号：R711.74[医药卫生—妇产科学]