Distinct β-Catenin and PIK3CA Mutation Profiles in Endometriosis-Associated Ovarian Endometrioid and Clear Cell Carcinomas

Matsumoto, Toshihide; Yamazaki, Masaaki; Takahashi, Hiroyuki; Kajita, Sabine; Suzuki, Erina; Tsuruta, Tomoko; Saegusa, Makoto

doi:10.1309/ajcpz5t2poofmqvn

Cited by 64 publications

(54 citation statements)

References 36 publications

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“…218 Tumors carrying PIK3CA mutations may respond to PI3K/AKT/mTOR inhibitors. 222 In endometriosis, PIK3CA mutation is reported in the context of its link with ovarian cancer 223,224 but none was found among 23 patients with only endometriosis, 87 possibly due to the lack of adequate statistical power. However, PI3K/AKT/mTOR signaling pathway has been strongly implicated in the development of endometriosis.…”

Section: Pik3camentioning

confidence: 99%

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Guo

2018

Reprod Medicine & Biology

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BackgroundOne recent study reports cancer driver mutations in deep endometriosis, but its biological/clinical significance remains unclear. Since the natural history of endometriosis is essentially gradual progression toward fibrosis, it is thus hypothesized that the six driver genes reported to be mutated in endometriosis (the RP set) may play important roles in fibrogenesis but not necessarily malignant transformation.MethodsExtensive PubMed search to see whether RP and another set of driver genes not yet reported (NR) to be mutated in endometriosis have any roles in fibrogenesis. All studies reporting on the role of fibrogenesis of the genes in both RP and NR sets were retrieved and evaluated in this review.ResultsAll six RP genes were involved in various aspects of fibrogenesis as compared with only three NR genes. These nine genes can be anchored in networks linking with their upstream and downstream genes that are known to be aberrantly expressed in endometriosis, piecing together seemingly unrelated findings.ConclusionsGiven that somatic driver mutations can and do occur frequently in physiologically normal tissues, it is argued that these mutations in endometriosis are not necessarily synonymous with malignancy or premalignancy, but the result of enormous pressure for fibrogenesis.

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Section: Pik3camentioning

confidence: 99%

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Guo

2018

Reprod Medicine & Biology

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“…Mutations in catenin beta 1 ( CTNNB1 ) are seen in 60% of ovarian endometrioid carcinomas (Matsumoto et al 2015). Mutations in AT Rich Interactive Domain 1A ( ARID1A ) and phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ( PIK3CA ) appear most consistently in clear cell ovarian carcinomas (Gadducci et al 2014, Anglesio et al 2015, Matsumoto et al 2015). Mutations in ARID1A , involved in chromatin remodeling, are present in both clear cell (15-75%) and endometrioid carcinomas (30-55%) (Wiegand et al 2010, Gadducci et al 2014).…”

Section: Association Between Endometriosis and Cancermentioning

confidence: 99%

Endometriosis: where are we and where are we going?

Greene¹,

Lang²,

Kendziorski³

et al. 2016

Reproduction

146

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Endometriosis currently affects ∼5.5 million reproductive-aged women in the U.S. with symptoms such as painful periods (dysmenorrhea), chronic pelvic pain, pain with intercourse (dyspareunia), and infertility. It is defined as the presence of endometrial tissue outside the uterine cavity and is found predominately attached to sites within the peritoneal cavity. Diagnosis for endometriosis is solely made through surgery as no consistent biomarkers for disease diagnosis exist. There is no cure for endometriosis and treatments only target symptoms and not the underlying mechanism(s) of disease. The nature of individual predisposing factors or inherent defects in the endometrium, immune system, and/or peritoneal cavity of women with endometriosis remains unclear. The literature over the last 5 years (2010-2015) has advanced our critical knowledge related to hormones, hormone receptors, immune dysregulation, hormonal treatments, and the transformation of endometriosis to ovarian cancer. In this review, we cover the aforementioned topics with the goal of providing the reader an overview and related references for further study to highlight the progress made in endometriosis research, while concluding with critical areas of endometriosis research that are urgently needed.

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“…This inflammatory microenvironment may cause DNA damage, possibly leading to malignant transformation . Findings of subtype‐specific molecular alterations within these tumors and endometriotic precursor lesions support this theory, for example somatic gene mutations in ARID1A, PIK3CA, β‐catenin, and PTEN and loss of heterozygosity . Low‐grade serous ovarian carcinoma is hypothesized to arise from endosalpingiosis or by shedding of normal fallopian tube epithelium into inclusion cysts at time of ovulation , but the role of this mechanism in endometriosis‐related ovarian cancer is unknown.…”

Section: Introductionmentioning

confidence: 99%

Risk factors of epithelial ovarian carcinomas among women with endometriosis: a systematic review

Thomsen

Schnack

Buchardi

et al. 2016

Acta Obstet Gynecol Scand

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Introduction. The objective of this review was to evaluate the published literature on epidemiologic risk factors for epithelial ovarian cancer among women with a diagnosis of endometriosis. Material and methods. A systematic literature search was conducted in PubMed and Scopus. Studies comparing epidemiologic risk factors of epithelial ovarian cancer among women with endometriosis were included. A quality assessment was conducted using the Newcastle-Ottawa Scale. Results. Eight of 794 articles met the inclusion criteria. A lower risk of epithelial ovarian cancer was observed in women with documented complete surgical excision of endometriotic tissue and suggested among women with unilateral oophorectomy. The use of oral contraceptives (≥10 years) may be associated with a lower risk of epithelial ovarian cancer among women with endometriosis, whereas older age at endometriosis diagnosis (≥45 years, pre-or postmenopausal), nulliparity, hyperestrogenism (endogenous or exogenous), premenopausal status at endometriosis diagnosis, solid compartments as well as larger size of endometrioma (≥9 cm in diameter at endometriosis diagnosis) were all associated with an increased risk of ovarian cancer. Conclusions. A subgroup of women with endometriosis characterized by endometriosis observed through surgery or imaging after the age of 45 years, nulliparity, postmenopausal status at endometriosis diagnosis, larger size of endometrioma (>9 cm) at endometriosis diagnosis, hyperestrogenism (endogenous or exogenous) and/or cysts with solid compartments may have an elevated risk of epithelial ovarian cancer. However, due to the limited number and size of studies in this area we cannot draw definitive conclusions. Further research into a risk factor profile among women with endometriosis is needed before clear recommendations can be made.

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Distinct β-Catenin and PIK3CA Mutation Profiles in Endometriosis-Associated Ovarian Endometrioid and Clear Cell Carcinomas

Abstract: Distinct molecular events may occur in relatively early stages of tumorigenesis of endometriosis-associated OEMCas and OCCCas.

Cited by 64 publications

References 36 publications

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Endometriosis: where are we and where are we going?

Risk factors of epithelial ovarian carcinomas among women with endometriosis: a systematic review

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