The presence of KRAS, PPP2R1A and ARID1A mutations in 101 Chinese samples with ovarian endometriosis

Zou, Yang; Zhou, Jiangyan; Guo, Jiubai; Wang, Liqun; Luo, Yong; Zhang, Ziyu; Liu, Faying; Tan, Jun; Wang, Rui; Huang, Ouping

doi:10.1016/j.mrfmmm.2018.03.001

Cited by 36 publications

(21 citation statements)

References 22 publications

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“…In the previous study, none of the seven DIE samples from Asian patients harboured a KRAS mutation. A recent study reported that KRAS mutation in ovarian endometriosis was rare (1/101, 1%), which was in agreement with our data (0/12). Taken together, our results suggest that somatic mutation of hotspot KRAS in codons 12 and 13 is rare in endometriosis, including cases of DIE in Korean patients.…”

Section: Kras Mutation In Endometriosis Lesions Of 19 Patientssupporting

confidence: 93%

Absence of KRAS hotspot mutations in endometriosis of Korean patients

et al. 2018

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Section: Kras Mutation In Endometriosis Lesions Of 19 Patientssupporting

confidence: 93%

Absence of KRAS hotspot mutations in endometriosis of Korean patients

et al. 2018

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“…Recent microarray, targeted sequencing and whole genome studies have identified that somatic mutations of AT-rich interaction domain 1A (ARID1A), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), PTEN, KRAS proto-oncogene, GTPase (KRAS), catenin beta 1 (CTNNB1) and mutL homolog 1 (MLH1) were commonly found across EAOC (55)(56)(57)(58)(59)(60)(61). EAOC and adjacent endometriotic lesions exhibited common multiple cancer driver gene mutations, suggesting that they can share extensive genetic similarity, a common genomic origin and a common lineage (62)(63)(64)(65).…”

Section: Similar Epigenetic Modifications: Gene-environment Interactimentioning

confidence: 99%

Integrating modern approaches to pathogenetic concepts of malignant transformation of endometriosis

et al. 2018

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In the present study, we summarize the role of the shared and independent (epi)genetic background between endometrioid carcinoma (EC) and clear cell carcinoma (CCC), two histological subtypes of endometriosis-associated ovarian cancer (EAOC). Using the PubMed database, we conducted a literature review of various studies related to the malignant transformation of endometriosis. Both endometriosis and EAOC face potential environmental hazards, including hemoglobin (Hb), heme and free iron, which induces DNA damage and mutations. Although EC is distinguished from CCC due to different morphologies, both represent common environmental profiles and maintain the similar (epi)genomic abnormalities with multiple overlaps and share similar molecular signatures. By contrast, EAOC also has diseasespecific gene signatures corresponding with each histological subtype: Estrogen receptor promotes EC cell proliferation ('go') and hepatocyte nuclear factor-1β (HNF-1β) induces CCC cell cycle arrest ('stop') under oxidative stress conditions. This model underscores a subtype-dependent 'go or stop' dichotomy, possibly through better ability to adapt in a changing environment. It was found that cyst fluid Hb and iron concentrations were significantly lower in EAOC when compared to benign ovarian endometrioma (OE), supporting the hypothesis that the redox imbalance plays a key role in the pathogenesis of EAOC. There are at least two phases of iron carcinogenesis and tumor progression: The initial wave of iron-induced oxidative stress and DNA mutations would be followed by the second big wave of subsequent synthesis of the antioxidants, which diminishes cellular oxidative stress capacity, increases apoptosis resistance and promotes tumor initiation and progression. Special emphasis is given to novel pathophysiological concepts of malignant transformation of endometriosis.

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“…Activation of the oncogenic KRAS and PI3K pathways and inactivation of the tumor suppressor genes PTEN and ARID1A may be the main pathogenic mechanisms of this progression [17]. Accordingly, genetic mutations can explain their occurrence [18,19]. In previous studies, gene expression profiling has been conducted to understand the molecular mechanisms associated with the transition from endometriosis to OCCC [20,21].…”

Section: Introductionmentioning

confidence: 99%

Tetraspanin 1 promotes endometriosis leading to ovarian clear cell carcinoma

et al. 2021

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Ovarian clear cell carcinoma (OCCC) reportedly develops from endometriosis. However, the molecular mechanism underlying its malignant progression to OCCC remains elusive. This study aimed to identify an essential gene in the malignant transformation of endometriosis to OCCC. We performed RNA sequencing in formalin‐fixed, paraffin‐embedded (FFPE) tissues of endometriosis (n = 9), atypical endometriosis (AtyEm) (n = 18), adjacent endometriosis to OCCC (AdjEm) (n = 7), and OCCC (n = 17). We found that tetraspanin 1 (TSPAN1) mRNA level was significantly increased by 2.4‐ (DESeq2) and 3.4‐fold (edgeR) in AtyEm and by 80.7‐ (DESeq2) and 101‐fold (edgeR) in OCCC relative to endometriosis. We confirmed that TSPAN1 protein level was similarly overexpressed in OCCC tissues and cell lines. In immortalized endometriosis cell lines, TSPAN1 overexpression enhanced cell growth and invasion. Mechanistically, TSPAN1 triggered AMP‐activated protein kinase (AMPK) activity, promoting endometriosis and cell growth. Upregulated levels of TSPAN1 are considered an early event in the development of high‐risk endometriosis that could progress to ovarian cancer. Our study suggests the potential of TSPAN1 as a screening candidate for high‐risk endometriosis.

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The presence of KRAS, PPP2R1A and ARID1A mutations in 101 Chinese samples with ovarian endometriosis

Cited by 36 publications

References 22 publications

Absence of KRAS hotspot mutations in endometriosis of Korean patients

Absence of KRAS hotspot mutations in endometriosis of Korean patients

Integrating modern approaches to pathogenetic concepts of malignant transformation of endometriosis

Tetraspanin 1 promotes endometriosis leading to ovarian clear cell carcinoma

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