DNA polymerase ε-mutant endometrial carcinosarcoma: A case report and literature review.
- 1Department of Pathology, The Second People's Hospital of Xiaoshan District, Hangzhou, Zhejiang 311200, P.R. China.
- 2Department of Pathology, The First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang 311200, P.R. China.
Abstract
DNA polymerase ε (POLE)-mutant endometrial carcinosarcoma (ECS) is a rare clinical lesion. The current study describes the diagnosis and treatment of a woman who presented with yellow vaginal discharge for >2 months; in addition, a literature review was conducted, and the clinical and pathological characteristics, treatment and prognosis of POLE-mutant ECS are discussed. Preoperative endometrial curettage was performed and the patient was diagnosed with poorly differentiated adenocarcinoma. Based on this finding, a total hysterectomy, bilateral adnexectomy and lymph node dissection were performed. A postoperative pathological examination revealed the morphological characteristics of a high-grade carcinosarcoma in the endometrial tumor. The results of immunohistochemical staining showed that the carcinoma was cytokeratin 7-positive (sarcoma, -) and both the carcinoma and sarcoma were vimentin-positive (carcinoma, weak +; sarcoma, +). Additionally, TP53 showed aberrant immunohistochemical overexpression in the carcinoma and sarcoma, and the Ki-67 proliferation index was 80% in carcinosarcoma. Molecular testing revealed a c.1231G>T (p.Val411Leu) mutation in exon 13 of the POLE gene, and mutations in the TP53 gene were detected in exons 5, 6 and 8. Adjuvant therapy was not administered to the patient after surgery, and no recurrence/metastasis was detected during the 18-month follow-up period. These findings indicate that molecular subtyping should be performed routinely in ECS to identify the POLE-mutant subtype and to avoid overtreatment.
Related
- Uterine Carcinosarcoma With an Adenosquamous Carcinoma and Low-Grade Endometrial Stromal Sarcoma-like Component: A Case Report
- Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review
- Case report and literature review: histologic transformation from EGFR-mutant lung adenocarcinoma to squamous cell carcinoma with newly detected SMAD4 and ATM variants
- Post-radiation Uterine Carcinosarcoma: A Case Report
- RNA polymerase I inhibitor BMH-21 promotes mutant p53 reactivation through nuclear zinc mobilization
BibTeX
@article{zhang2026polymerase,
title = {{DNA polymerase ε-mutant endometrial carcinosarcoma: A case report and literature review.}},
author = {Yanjie Zhang and Bin Huang and Haiyan Ge},
journal = {Experimental and therapeutic medicine},
year = {2026},
month = oct,
doi = {10.3892/etm.2026.13340},
url = {https://europepmc.org/article/MED/42948049},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - DNA polymerase ε-mutant endometrial carcinosarcoma: A case report and literature review.
AU - Yanjie Zhang
AU - Bin Huang
AU - Haiyan Ge
PY - 2026
DA - 2026/10/19
JO - Experimental and therapeutic medicine
DO - 10.3892/etm.2026.13340
UR - https://europepmc.org/article/MED/42948049
AB - DNA polymerase ε (POLE)-mutant endometrial carcinosarcoma (ECS) is a rare clinical lesion. The current study describes the diagnosis and treatment of a woman who presented with yellow vaginal discharge for >2 months; in addition, a literature review was conducted, and the clinical and pathological characteristics, treatment and prognosis of POLE-mutant ECS are discussed. Preoperative endometrial curettage was performed and the patient was diagnosed with poorly differentiated adenocarcinoma. Based on this finding, a total hysterectomy, bilateral adnexectomy and lymph node dissection were performed. A postoperative pathological examination revealed the morphological characteristics of a high-grade carcinosarcoma in the endometrial tumor. The results of immunohistochemical staining showed that the carcinoma was cytokeratin 7-positive (sarcoma, -) and both the carcinoma and sarcoma were vimentin-positive (carcinoma, weak +; sarcoma, +). Additionally, TP53 showed aberrant immunohistochemical overexpression in the carcinoma and sarcoma, and the Ki-67 proliferation index was 80% in carcinosarcoma. Molecular testing revealed a c.1231G>T (p.Val411Leu) mutation in exon 13 of the POLE gene, and mutations in the TP53 gene were detected in exons 5, 6 and 8. Adjuvant therapy was not administered to the patient after surgery, and no recurrence/metastasis was detected during the 18-month follow-up period. These findings indicate that molecular subtyping should be performed routinely in ECS to identify the POLE-mutant subtype and to avoid overtreatment.
SN - 1792-0981
SN - 1792-1015
ER -