Cervical embryonal rhabdomyosarcoma: a clinicopathological and molecular analysis of three cases
10.3760/cma.j.cn112151-20250327-00213
- VernacularTitle:宫颈胚胎性横纹肌肉瘤3例临床病理及分子遗传学特征
- Author:
Haoxiang LI
1
;
Ajin HU
1
;
Congrong LIU
1
Author Information
1. 北京大学第三医院病理科/北京大学医学部病理学系，北京100191
- Publication Type:Journal Article
- Keywords:
Uterine cervical neoplasms;
Rhabdomyosarcoma;
DICER1
- From:
Chinese Journal of Pathology
2025;54(8):825-830
- CountryChina
- Language:Chinese
-
Abstract:
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.
