Endometriosis and ovarian cancer: links, risks, and challenges faced

Abstract

Endometriosis is a benign gynecological condition characterized by specific histological, molecular, and clinical findings. It affects 5%–10% of premenopausal women, is a cause of infertility, and has been implicated as a precursor for certain types of ovarian cancer. Advances in technology, primarily the ability for whole genome sequencing, have led to the discovery of new mutations and a better understanding of the function of previously identified genes and pathways associated with endometriosis associated ovarian cancers (EAOCs) that include PTEN, CTNNB1 (β-catenin), KRAS, microsatellite instability, ARID1A, and the unique role of inflammation in the development of EAOC. Clinically, EAOCs are associated with a younger age at diagnosis, lower stage and grade of tumor, and are more likely to occur in premenopausal women when compared with other ovarian cancers. A shift from screening strategies adopted to prevent EAOCs has resulted in new recommendations for clinical practice by national and international governing bodies. In this paper, we review the common histologic and molecular characteristics of endometriosis and ovarian cancer, risks associated with EAOCs, clinical challenges and give recommendations for providers.

Molecular signatures of ovarian diseases: Insights from network medicine perspective

“…Though the relationships between endometriosis, ovarian cancer, and PCOS have been studied [Chittenden et al 2009;Sayasneh et al 2011;Pavone and Lyttle 2015], the molecular mechanisms behind their connections are not yet certain.…”

“…Though the relationship between endometriosis and ovarian cancer has been studied [Sayasneh et al 2011], the molecular mechanistic basis, if any, for this connection are not yet certain. It was proposed that malignant transformation of endometriosis to ovarian cancer is multi-factorial, including genetic and hormonal factors [Pavone and Lyttle 2015]. Considering the observation that the risk of developing ovarian cancer is increased in women with PCOS [Chittenden et al 2009], a relationship between these two diseases is also highly probable.…”

Analytical Hypotheses on Possible Etiology and Types of Endometriosis

“…Most likely when women present with menstrual disorder, endometrial aspirate may be analyzed for viremia to assess viral load of the uterine cavity. Hepatitis B virus infection has been linked with B-cell non-Hodgkins lymphoma [47] and to ovarian cancer [7]. If viremia or high viral load in uterine aspirate is found more in patients with endometriosis and can be ascertained as causal, then it would be interesting to follow these patients up and observe outcome of antiviral therapy on them, especially those that present with secondary infertility.…”

“…Modern research supports the concept of malignant transformation and the current consensus is that the histogenesis of endometriosis is multifactorial, combining genetic, hormonal, and immunological factors [7].…”

“…Globally, there is no definitive prevalence of endometriosis because the disease often occurs devoid of any noteworthy warning signs, though the common opinion is that it occurs in 6 to 10% of the general female population, in women with pain, infertility, or both, and with a frequency is 35-50% [5]. The prevalence of endometriosis in general population of women aged years is put at 1% to 8% [6] or up to 10% [6,7] and more recent data have shown that the incidence of endometriosis stabilized in the last 30 years at 2.37-2.49/1000/y [7], supporting the general view of its approximate prevalence being 6-8% [8]. However, the absence of reliable non-invasive marker for the diagnosis of endometriosis makes the true prevalence problematic.…”