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Research Article: Case series analysis of immunophenotypic evolution during recurrence of low-grade endometrial stromal sarcoma: implications for molecular stability and clinical management

Date Published: 2026-06-02

Abstract:
To investigate the pathological morphology, immunophenotype, and molecular genetic characteristics of recurrent low-grade endometrial stromal sarcoma (LG-ESS) through the analysis of paired primary and recurrent tumor samples. A single-center retrospective analysis was conducted using the clinical data, pathological morphology, immunohistochemical results of estrogen receptor, progesterone receptor (PR), CD10, Ki-67, and fluorescence in situ hybridization findings for JAZF1 and PHF1 gene rearrangements in paired tumor tissues from four patients with LG-ESS. Patients’ ages ranged from 22 to 34 years. All cases showed consistent JAZF1 or PHF1 gene rearrangements in both primary and recurrent tumors. However, immunophenotypic alterations were observed during recurrence: one recurrent lesion showed loss of PR expression accompanied by a decreased Ki-67 index, whereas another demonstrated loss of CD10 expression. The median follow-up time was 84 months (range, 36–144 months). The recurrence interval ranged from 3 to 12 years, and all patients remained alive following comprehensive treatment. This case series indicates that core driver gene rearrangements remain stable during recurrence in LG-ESS, whereas immunophenotypic evolution may occur in some cases. These preliminary findings suggest that the re-evaluation of biomarkers such as hormone receptors at recurrence may provide valuable guidance for individualized treatment selection (e.g., hormonal therapy). Given the characteristic tendency for late recurrence in LG-ESS, long-term follow-up is essential.

Introduction:
Low-grade endometrial stromal sarcoma (LG-ESS) is a rare uterine mesenchymal tumor that predominantly affects young women. Standard treatment includes surgery, chemotherapy, and hormonal therapy ( 1 ). A significant clinical characteristic is its strong propensity for recurrence, which can occur many years after initial treatment ( 2 , 3 ). Such recurrence imposes substantial long-term physical and psychological burdens on patients. Molecularly, characteristic gene fusions such as JAZF1 - SUZ12 are highly stable…

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