Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival

Cancer research · Leiomyosarcoma · TP53

Leiomyosarcomas displaying a leiomyoma‑like expression profile have improved disease‑specific survival and are associated with distinct diagnostic biomarkers.

Uterine leiomyosarcomas are rare and aggressive cancers with poor survival. Their non‑cancerous counterparts, uterine leiomyomas, are common tumors affecting many women during reproductive years. Distinguishing leiomyosarcomas from leiomyomas remains a diagnostic challenge. This study aimed to identify molecular biomarkers that differentiate leiomyosarcomas from leiomyomas and to assess their prognostic value. We analysed RNA‑sequencing data from 51 leiomyosarcomas and 44 leiomyomas, conducted differential gene expression analysis and machine learning classification, and validated selected markers by immunohistochemistry. The retinoblastoma and cell‑cycle pathways were dysregulated. A subset of leiomyosarcomas with a leiomyoma‑like expression profile was associated with better survival. Immunohistochemistry confirmed TOP2A and CDK1 as potential diagnostic biomarkers, with higher expression linked to worse survival. The findings highlight molecular heterogeneity and provide potential diagnostic and prognostic biomarkers for uterine leiomyosarcoma.

Identifying a leiomyoma‑like expression signature in uterine leiomyosarcoma enables better risk stratification and informs targeted diagnostic testing, potentially improving patient management.

Evidence level: Korai humán adat. Kis vagy feltáró emberi adat.

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