Endometriosis is a chronic inflammatory and hormone-dependent disease characterized by the ectopic growth of endometrial tissue outside the uterus. Endometriosis affects approximately 10% of reproductive-age women and has a significant adverse impact on the quality of life due to debilitating pelvic pain and infertility. Despite intense research, the disease pathogenesis and pathophysiology of endometriosis remain enigmatic. While considered a benign disease, convincing evidence suggests that endometriosis is associated with an elevated risk of malignant transformation to ovarian cancer, particularly clear cell ovarian and endometrioid ovarian carcinomas. The notion that endometriosis is a cancer precursor is reinforced by the recent identification of somatic cancer driver mutations affecting components of the PI3K/mTOR pathway and the chromatin remodeling factor ARID1A in histologically normal endometriotic tissue. Moreover, there is mounting evidence implicating microenvironmental factors in disease development and progression. In this review, we will highlight the key mutational hallmarks, epigenetic modifications, and gene expression changes driving the development of endometriosis and its malignant transformation and summarize the substantial progress that has been made toward unraveling the genetic and molecular basis underlying the disorder.
|Journal||Frontiers in Oncology|
|Publication status||Submitted - Sep 6 2021|