Cancer-associated mutations in endometriosis reframe a benign disease through molecular oncology

Endometriosis is a benign yet debilitating condition, and its molecular complexity remains unexplored. Although clinically recognized, its genetic landscape has long been overlooked. This review analyses cancer-associated mutations (CAMs) identified in endometriotic lesions, revealing parallels with malignancy. Recurrent mutations in key oncogenic and tumour suppressor genes-PIK3CA, CTNNB1, KRAS, PTEN and ARID1A-emerge with patterns distinct from cancer, yet suggesting shared mechanisms. Despite the limited genomic data, these findings position endometriosis as a valuable model for investigating early tumour-like processes. By reframing endometriosis through the lens of molecular oncology, this study offers new insights into its pathogenesis and proposes a translational framework for advancing diagnostics and understanding disease progression at the benign-malignant interface.