Clinicopathological and Molecular Characterization of Uterine Tumors Resembling Ovarian Sex Cord Tumors: An Eight-Case Series with Novel Fusion Gene Insights and Literature Review

Abstract

Uterine tumors resembling ovarian sex cord tumors (UTROSCTs) are characterized by an uncertain malignant potential and exhibit prominent sex cord-like differentiation. The purpose of this study was to comprehensively review the clinicopathological characteristics of UTROSCTs and analyze eight cases of UTROSCTs treated at our hospital. We conducted an extensive review of the relevant literature and gathered pertinent data. In addition, we identified eight patients with UTROSCTs and analyzed their clinical and pathological features, diagnosis, treatment, and prognosis. Patients presented with symptoms such as abnormal vaginal bleeding or uterine mass detection. Surgical interventions varied, including total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymphadenectomy, with adjuvant therapy given to one patient. All eight patients are currently disease-free, with the longest follow-up period being nearly 10 years. Our systematic review of UTROSCTs summarized the clinical and pathological features and revealed several novel markers, including ESR1-NCOA2-3, GREB1-NCOA1-3, GREB1-CTNNB1, and GREB1-NR4A3. UTROSCTs are rare mesenchymal tumors with unclear histogenesis and uncertain malignant potential. Although our understanding of UTROSCTs remains incomplete, the promising findings and increasing availability of clinical data will contribute to the further understanding and development of this rare neoplasm.

Keywords

Uterine tumors resembling ovarian sex cord tumors / UTROSCT / Fusion genes / GREB1 rearrangement / ESR1 rearrangement / Biomarkers / Clinicopathology / Prognosis / Fertility-sparing surgery / Molecular diagnostics

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