子宫-卵巢同步性内膜样癌临床病理学及分子遗传学分析  

Synchronous endometrial and ovarian endometrioid carcinoma(SEO-EC):clinicopathological and molecular features

作　　者：赵肖雅 曹芳 宋子秀 刘岩[1] 张晓波[3] 沈丹华[3] 刘从容[1] Zhao Xiaoya;Cao Fang;Song Zixiu;Liu Yan;Zhang Xiaobo;Shen Danhua;Liu Congrong(Department of Pathology,Peking University Third Hospital,Beijing 100191,China;Department of Pathology,Hunan Cancer Hospital,Changsha 410031,China;Department of Pathology,Peking University People′s Hospital,Beijing 100044,China)

机构地区：[1]北京大学第三医院病理科,北京100191 [2]湖南省肿瘤医院病理科,长沙410031 [3]北京大学人民医院病理科,北京100044

出　　处：《中华医学杂志》2025年第8期584-591,共8页National Medical Journal of China

基　　金：国家自然科学基金(82072882);北京大学第三医院临床重点项目(BYSYZD2022015)。

摘　　要：目的探究子宫-卵巢同步性内膜样癌(SEO-EC)患者的临床病理学及分子遗传学特征。方法回顾性纳入2016年9月至2023年7月北京大学第三医院、北京大学人民医院及湖南省肿瘤医院这三家大型医疗中心确诊的SEO-EC患者共28例。利用二代测序技术分别对28例患者的宫体和卵巢癌灶配对样本进行测序,其中4例同时对宫体-卵巢外转移灶进行了检测,27例对外周血/正常组织进行了检测。依据2020版世界卫生组织(WHO)女性生殖道肿瘤分类组织学标准和国际妇产科联盟(FIGO)2023版子宫内膜癌分期标准进行分组和临床分期,回顾临床病理特征。结果28例患者的年龄为(47.3±8.5)岁,85.7%(24/28)SEO-EC发生在绝经前,82.1%(23/28)和96.4%(27/28)患者的宫体和卵巢癌灶具有一致的组织学分级和分子分型结果。所有病例的宫体和卵巢癌灶均具有克隆性,最常见的共享体细胞基因变异依次为PTEN(64.3%,18/28)、PIK3CA(46.4%,13/28)、ARID1A(28.6%,8/28)、CTNNB1(25.0%,7/28)和KRAS(21.4%,6/28)。82.1%(23/28)的患者预后良好,仅5例WHO高危组且FIGO晚期患者出现复发和肿瘤特异性死亡。遗传性肿瘤综合征患者在本组占比较高(22.2%,6/27)。结论绝大多数SEO-EC宫体和卵巢癌灶具有一致的组织学分级和分子分型结果,所有病例的宫体和卵巢癌灶均具有克隆性;WHO高危组且FIGO晚期患者可能提示预后不良。Objective To investigate the clinicopathological characteristics and molecular features of synchronous endometrial and ovarian endometrioid carcinoma(SEO-EC).Methods A total of 28 patients diagnosed with SEO-EC at the Peking University Third Hospital,Hunan Cancer Hospital and Peking University People′s Hospital between September 2016 and July 2023 were included retrospectively.Next-generation sequencing(NGS)was performed to assess the clonal relatedness of 28 paired endometrial and ovarian tumors.Extra-uterine-ovarian disease specimens in four patients diagnosed with SEO-EC were further tested with comprehensive NGS analysis.Normal tissue/blood samples of 27 patients were available for NGS analysis.All cases were classified according to WHO 2020 histologic criteria and FIGO 2023 staging system.Relevant clinicopathological features were also analyzed.Results The age of 28 patients was(47.3±8.5)years.Most patients(85.7%,24/28)were premenopausal.In most instances,ovarian and endometrial carcinomas exhibited consistent morphology(82.1%,23/28)as well as molecular subtypes(96.4%,27/28).NGS confirmed a clonal relationship in all cases.The most common somatic mutations shared between endometrial and ovarian tumors were PTEN(64.3%,18/28),PIK3CA(46.4%,13/28),ARID1A(28.6%,8/28),CTNNB1(25.0%,7/28),and KRAS(21.4%,6/28).A majority of patients(82.1%,23/28)exhibited a favorable prognosis,with only 5 patients identified as the WHO high-risk group and FIGO advanced-stage experiencing recurrence and tumor-specific death.In addition,22.2%(6/27)of patients carried pathogenic germline mutations.Conclusions In this study,there is a high degree of concordance between the histologic and molecular subtypes of the endometrial and ovarian tumors in SEO-EC.We confirmed a clonal relationship in all tested paired SEO-EC.Patients identified as the WHO high-risk group and advanced FIGO stages may exhibit a poor prognosis in SEO-EC.

关 键 词：癌 子宫内膜样 子宫-卵巢同步性内膜样癌 克隆性 WHO风险分组 国际妇产科联盟2023版分期 遗传性肿瘤综合征 

分 类 号：R737.3[医药卫生—肿瘤]