Genetics of endometriosis and its association with ovarian cancer

B.K. Iyshwarya, Vajagathali Mohammed, Ramakrishnan Veerabathiran
In: Gynecology and Obstetrics Clinical Medicine · 2021 · vol. 1(4) , pp. 177–185 · doi:10.1016/j.gocm.2021.09.001 · W3210001911
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This paper reviews current data on genetic phenomena and molecular changes in endometriosis, focusing on gene mutations shared with malignancies and the potential for uterine cells to migrate and cause endometriosis-associated ovarian cancer.

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Abstract

Abstract Endometriosis is a chronic and destructive developmental gynecologic condition that affects approximately 10% percent of females worldwide, and is one of the most frequent causes of extreme pelvic pain. The endometrium-like tissue, glands, and stroma outside the uterine cavity are often affected by endometriosis. It is estrogen-dependent and frequently affects the ovaries, fallopian tubes, and pelvic peritoneum. Symptoms such as chronic pelvic pain, infertility, dyspareunia, as well as digestive and urinary symptoms often accompany endometriosis. The overall condition shares characteristics with ovarian carcinoma such as enhanced vascular activation of the endothelial growth factor, local invasion, lymph angiogenesis, neoangiogenic, mechanism tolerance to apoptosis, and genome instability. Genetic studies have shown that endometriotic lesions contain gene mutations related directly to malignancies, particularly the ARID1A, p53, KRAS , and PTEN genes. However, women with endometriosis have a lower risk of ovarian cancer than the general population, where endometriosis was seen in only 1.3%, and did not diagnose ovarian cancer progression among them. We need to look into the connection between endometriosis and uterine carcinomas, as well as the common lesions and correlations in the uterine microenvironment, which may play a role in mutations and malignant exchanges. Although endometriosis is a risk factor of ovarian cancer, malignant cells from the uterus can migrate to the ovary and cause endometriosis-related ovarian cancer. The purpose of this article is to examine current data on genetic phenomena and molecular changes for endometriosis associated with ovarian cancer, focusing primarily on the proliferation of uterine and precise cell biomarkers.
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1 Introduction Endometriosis is a painful long-term gynecological disorder that affects about 10% (190 million)of adolescent and reproductive-aged women globally.1 Women with endometriosis are mostly severely affected between 25 and 35 years of age, when accumulation of endometrium tissue occurs between the cervical canal and the fallopian tubes inside the uterus. Although endometrioses usually begins as a benign rupture, it shares significant characteristics with piercing cancer. Like malignancy, endometriosis can attack and spread extensively.2Significant symptoms associated with endometriosis are infertility, crippling pelvic pain, dyspareunia, dysuria, and dysmenorrhea.3 Also, women with endometriosis often experience aberrant immune reactions and hormonal imbalances.4,5 Although the rudimentary etiology of endometriosis is inconclusive, an epigenetic connection is likely. Complications of endometriosis include bleeding and the proliferation of adhesion bands that link the cervical and midline organs. In addition, there is also an undeniable fertility problem in association to ovaries or fallopian tubes. Furthermore, extreme vulnerability of failed labor or frantic fertilization of an offspring, rupturing cysts causing severe pain, obstructed or distorted digestive tract, and specific types of malignancy with a severe risk of uterine cancer are common.6 Laparoscopy is the backbone in diagnosing endometriosis as it provides visual evidence of endometrial lesions and helps to stage the diseases.7 Four stages of endometriosis are conventionally based upon the location and expanses of aberrantuterine tissue. In Stage1 (minimal) some superficial implants are seen, while in Stage 2 (mild) more implants are involved. Stage 3 (moderate) involves small amounts of endometrium tissue in the ovaries with deep implants and some grafts. Finally, Stage 4(severe) involves multiple deep implants, and large areas of endometrium in both ovaries with multiple dense grafts.8 Pathogenesis, molecular changes, advanced cancer series, ovarian cancer, and mucosal cancer formation often occur in a varying order.9 In addition to the known risk factors of endometriosis-related cancer as shown in Fig. 1. Genetics certainly play a crucial role in both the probability and pathogenesis of uterine cancer.10,11 Familial endometriosis is estimated to be 50%, and identification of involved gene variants is essential for establishing personalized treatments. However, as with many complicated human diseases, discovering causative genetic factors remain a significant challenge. Disease systematic studies evaluating the mechanisms and factors in endometriosis associated ovarian cancer (EAOC) are have provided some understanding. Women with EAOC are generally younger, have an earlier stage of development, and also have a worse oncologic outcome than women with non-EAOC, suggesting that EAOC's biologic activity varies from non-endometriosis-associated endometriosis ovarian cancer.12Clear cell carcinoma and endometriosis carcinoma are the most frequent pathologic forms, according to a detailed investigation of the EAOC, followed by serous carcinoma and mucinous carcinoma.13This study aims to review the existing research on genetic and molecular changes in endometriosis-related ovarian cancer, with a particular emphasis on uterine and precise cell biomarkers. The incidence of endometrial cancer increased by 0.69% worldwide between 1990 and 2019, and mortality increased significantly in more than 40% of countries (highest in low-middle-income countries). The most pronounced increase of EAOC was in the United Kingdom (>1%), followed by Brazil (0.8-1%), and the USA (0.6-0.8%). However, some developed countries (Canada and Sweden) increased by less than 0.2%. Asian and African countries actually had a decrease in prevalence rate (<1%).Gu and colleagues reported that endometrial-related ovarian cancer significantly increased in developed countries (Fig. 2).14 According to epidemiological and molecular results, endometriosis has malignancy potencies that contribute to ovarian cancers. Some pathological trials have shown that 5–10% of women with ovarian endometriosis have ovarian cancer with clear cell and endometrial cancers mostly linked with endometriosis. Furthermore, experiments have shown that ovarian cancers and adjacent endometriotic lesions share genetic mutations, implying a malignant genetic transition spectrum. The prevalence of endometriosis was seen in 39.2% of clear cell ovarian cancer cases and 21.2% of endometrioid ovarian cancer cases compared to 3.3% and 3% of severe and mucinous subtypes, respectively.15

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endometriosischronic_pelvic_paindyspareuniainfertility

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