Genetic and Biomarker Approaches to Uterine Fibroids: Toward Precision Medicine

Uterine fibroids (UFs) are the most common benign tumors of the female reproductivesystem, affecting 70–80% of women by age 50. Early detection is challenging due to theabsence of initial symptoms, and diagnosis primarily relies on ultrasound and magneticresonance imaging (MRI). However, biomarker-driven approaches could enable earlierand more precise detection. This review explores emerging biomarkers and geneticfactors in fibroid pathogenesis. Potential biomarkers, including PLP1, FOS, versican,LDH, and IGF-1, show promise for diagnosis and recurrence prediction. Genetic studieshave identified key mutations in MED12, FH, HMGA2, and COL4A5-COL4A6, alongsidegenome-wide association studies (GWAS) that highlight fibroid risk loci. Interestingly,biomarkers may also be mutation-type specific, suggesting potential for more precisemolecular classification. Gene therapy offers an innovative treatment approach but thegenetic landscape of fibroids remains underexplored, limiting advancements in researchand funding. Integrating biomarker-based diagnostics and genetic profiling couldtransform fibroid detection and management, reducing reliance on invasive procedures.This review highlights the urgent need for improved diagnostic tools, prognostic markers,and targeted therapies for uterine fibroids.