Stage IA undifferentiated uterine sarcoma with SMARCA4 and SMARCA2 co-deficiency: a case report
- 1Department of Radiation Oncology, Shaoxing Second Hospital, Shaoxing , ,
- 2School of Medicine, Shaoxing University, Shaoxing , ,
Abstract
Uterine sarcomas represent a rare and heterogeneous group of malignancies whose management remains clinically challenging. They account for approximately 3%–5% of all uterine malignancies. Undifferentiated uterine sarcoma (UUS) is a subtype of uterine sarcomas. SMARCA4 is a tumor suppressor gene that is aberrantly altered in approximately 5%–7% of human malignancies. SMARCA4 -deficient UUS is a highly aggressive, undifferentiated mesenchymal neoplasm associated with a median overall survival (OS) of 7 months. During tumorigenesis, loss of function of either SMARCA4 or SMARCA2 is frequently observed; however, concurrent loss of both genes has been reported to be synthetically lethal and is therefore considered unexpected. In this case report, a 52-year-old Chinese woman with early-stage UUS and SMARCA4 and SMARCA2 co-deficiency underwent surgical resection followed by adjuvant chemotherapy and achieved a disease-free survival (DFS) of 32 months. This case suggests that patients with UUS harboring SMARCA4 and SMARCA2 co-deficiency may derive a survival benefit from early diagnosis and surgical resection. However, owing to the extreme rarity of UUS with co-deficiency of SMARCA4 and SMARCA2 , conducting a high-level phase III randomized controlled trial to validate this observation remains impractical.
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BibTeX
@article{ji2026stage,
title = {{Stage IA undifferentiated uterine sarcoma with SMARCA4 and SMARCA2 co-deficiency: a case report}},
author = {Rong Ji and Xialin Chen and Juan Lang and Zhongkui Xiong},
journal = {Frontiers in oncology},
year = {2026},
month = oct,
doi = {10.3389/fonc.2026.1939651},
url = {https://europepmc.org/article/PMC/PMC13671925},
note = {CC BY},
}
RIS
TY - JOUR
TI - Stage IA undifferentiated uterine sarcoma with SMARCA4 and SMARCA2 co-deficiency: a case report
AU - Rong Ji
AU - Xialin Chen
AU - Juan Lang
AU - Zhongkui Xiong
PY - 2026
DA - 2026/10/02
JO - Frontiers in oncology
DO - 10.3389/fonc.2026.1939651
UR - https://europepmc.org/article/PMC/PMC13671925
AB - Uterine sarcomas represent a rare and heterogeneous group of malignancies whose management remains clinically challenging. They account for approximately 3%–5% of all uterine malignancies. Undifferentiated uterine sarcoma (UUS) is a subtype of uterine sarcomas. SMARCA4 is a tumor suppressor gene that is aberrantly altered in approximately 5%–7% of human malignancies. SMARCA4 -deficient UUS is a highly aggressive, undifferentiated mesenchymal neoplasm associated with a median overall survival (OS) of 7 months. During tumorigenesis, loss of function of either SMARCA4 or SMARCA2 is frequently observed; however, concurrent loss of both genes has been reported to be synthetically lethal and is therefore considered unexpected. In this case report, a 52-year-old Chinese woman with early-stage UUS and SMARCA4 and SMARCA2 co-deficiency underwent surgical resection followed by adjuvant chemotherapy and achieved a disease-free survival (DFS) of 32 months. This case suggests that patients with UUS harboring SMARCA4 and SMARCA2 co-deficiency may derive a survival benefit from early diagnosis and surgical resection. However, owing to the extreme rarity of UUS with co-deficiency of SMARCA4 and SMARCA2 , conducting a high-level phase III randomized controlled trial to validate this observation remains impractical.
SN - 2234-943X
ER -