Endometriosis-associated ovarian cancer: What have we learned so far?

Abstract

Endometriosis is defined as the presence of ectopic endometrial tissue outside of the uterine cavity, most commonly in the ovaries and peritoneum. It is a complex disease that is influenced by multiple factors. It is also a common gynecological disorder and affects approximately 10-15% of all women of reproductive age. Recent molecular and pathological studies indicate that endometriosis may serve as a precursor of ovarian cancer (endometriosis-associated ovarian cancer, EAOC), particularly endometrioid and clear cell ovarian cancers. Although histological and epidemiological studies have demonstrated that endometriosis has a malignant potential, the molecular mechanism that underlies the malignant transformation of endometriosis is still controversial, and the precise mechanism of carcinogenesis must be fully elucidated. Currently, the development and improvement of a new sequencing technology, next-generation sequencing (NGS), has been increasingly relevant in cancer genomics research. Recently, NGS has also been utilized in clinical oncology to advance the personalized treatment of cancer. In addition, the sensitivity, speed, and cost make NGS a highly attractive platform compared to other sequencing modalities. For this reason, NGS may lead to the identification of driver mutations and underlying pathways associated with EAOC. Here, we present an overview of the molecular pathways that have led to the current opinions on the relationship between endometriosis and ovarian cancer.

Keywords: Endometriosis; Endometriosis-associated ovarian cancer; Gene mutations; Malignant transformation; Next-generation sequencing.