摘要
目的探讨宫颈胚胎性横纹肌肉瘤(embryonal rhabdomyosarcoma,ERMS)的临床病理及分子遗传学特征。方法回顾性分析北京大学第三医院2017年4月至2023年4月诊断的3例宫颈ERMS患者,总结临床病理、分子遗传学、治疗及预后信息。结果3例宫颈ERMS患者,年龄分别为17、15、23岁,均因阴道口息肉样肿物就诊。镜下观察,黏液水肿性间质中卵圆形或短梭形肿瘤细胞排列成细胞致密区和稀疏区,伴有不同程度的横纹肌母细胞分化。免疫组织化学显示肿瘤细胞不同程度表达MyoD1、Myogenin和Myoglobin。3例均检出DICER1基因突变,其中2例同时检出DICER1胚系突变。患者均接受局部切除术和术后辅助化疗,随访10~76个月,1例局部复发,2例无病生存。结论宫颈ERMS好发于年轻女性,常因宫颈息肉样物脱出就诊,具有独特的分子遗传学特征,常伴有DICER1基因突变,并与DICER1综合征密切相关。
Objective To investigate the clinicopathological characteristics and molecular genetic alterations of cervical embryonal rhabdomyosarcoma(ERMS).Methods Three cases of cervical ERMS diagnosed at Peking University Third Hospital from April 2017 to April 2023 were retrospectively analyzed.Clinicopathological data,molecular genetics,treatments,and follow-up information were examined.Results Three patients with cervical ERMS,aged 17,15,and 23 years,respectively,were included.All presented with polypoid masses at the vaginal opening.Histologically,oval or short-fusiform tumor cells in myxedematous stroma were arranged in dense and sparse regions,accompanied by various degrees of rhabdomyoblastic differentiation.Immunohistochemically,MyoD1,Myogenin and Myoglobin were expressed in all 3 tumors.The DICER1 gene mutation was detected in all 3 tumors,while the DICER1 germline mutation was detected only in 2 cases.All patients received local resection and adjuvant chemotherapies.The follow-up period was 10-76 months.One patient experienced local recurrence,and two remained disease-free.Conclusions Cervical ERMS predominantly affects young females and commonly presents as a prolapsed polypoid cervical lesion.It demonstrates distinctive molecular genetic characteristics,most frequently DICER1 mutations,and shows a strong association with the DICER1 syndrome.
作者
李浩响
胡阿锦
刘从容
Li Haoxiang;Hu Ajin;Liu Congrong(Department of Pathology,Peking University Third Hospital/Peking University School of Basic Medical Sciences,Beijing 100191,China)
出处
《中华病理学杂志》
北大核心
2025年第8期825-830,共6页
Chinese Journal of Pathology
基金
国家自然科学基金(82072882)。
