Endometriosis and Cancer: Prevention and Diagnosis

Endometriosis is a benign reproductive tract disease, characterized by ectopic implantation of endometrial cells with elevated proliferation and migration capacity outside the uterus, mainly in the pelvis. Despite its benign nature, a number of studies support the notion that endometriosis may represent the initial stage of a neoplastic process, especially in the ovary. In fact, endometriosis shares several common features with cancer, including the ability to evade apoptosis, cell migration and proliferation, implantation at distant sites, neovascularization, creating a microenvironment eluding the immune system. A possible genetic link has been suggested in recent studies, highlighting driver mutations in PIK3CA, KRAS, ARID1A, and other genes. However, the underlying molecular and cellular mechanisms are still not fully understood. Endometriosis-associated ovarian cancer (EAOC) represents a heterogeneous group of different types of cancer including clear cell carcinoma, endometrioid carcinoma, and seromucinous borderline tumor, arising from coexistent endometriosis. However, clinical studies show controversial results on the link between endometriosis and cancer. Furthermore, considering the discrepancy between the low prevalence of EAOC and the high frequency of endometriosis, the hypothesis that endometriosis represents an exclusive premalignant condition is yet to be fully demonstrated. Atypical phenotypes of ovarian endometriosis require an appropriate imaging evaluation, but there are no conclusive data indicating that a specific screening protocol or the prophylactic removal of endometriosis lesions reduces the risk of EAOC. Further studies are needed to adequately explore clinical and basic science data on the link between endometriosis and cancer.