Dawson, A., Fernandez, M. L., Anglesio, M., Yong, P. J., & Carey, M. S. (2018). Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development. Ecancermedicalscience. https://doi.org/10.3332/ecancer.2018.803
Dawson A, Fernandez ML, Anglesio M, Yong PJ, Carey MS. Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development. Ecancermedicalscience. 2018. doi:10.3332/ecancer.2018.803
Dawson, Amy, et al. "Endometriosis and endometriosis-associated cancers: new insights into the molecular mechanisms of ovarian cancer development." Ecancermedicalscience, 2018.
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RRM Academy Synopsis
Endometriosis precedes some ovarian cancers, and overall risk is low
Endometriosis can turn into some ovarian cancers, but the overall risk stays low. This 2018 narrative review examines molecular studies. DNA tests found the same mutations in these cancers and the endometriosis next to them. The authors propose that deep infiltrating endometriosis may be a benign growth that invades nearby tissue but rarely spreads far.
Study at a glance, narrative review: Endometriosis precedes some ovarian cancers, and overall risk is low. Source: Dawson A et al., 2018, PMID 29456620.
Key Findings
Ovarian cancer arose in 0.3–0.8% of patients with a diagnosis of endometriosis in a large epidemiological study. The risk was 2–3 times higher than in controls.
Clear cell and endometrioid ovarian cancers make up approximately 20% of all epithelial ovarian cancers. Only these subtypes have a shown direct clonal link to endometriosis.
A genomic study of deep infiltrating endometriosis found somatic mutations in 79% of 24 cases. Known cancer driver genes carried statistically significant mutations in 26% of all cases screened.
In that study, the driver mutations did not appear to indicate which lesions would progress to a gynecologic cancer. They did not appear to be required for deep infiltrating lesions to develop.
In a 2015 study, 85% of atypical endometriosis lesions showed an immunological gene signature like that of cancer, against 30% of typical endometriosis lesions.
Interpretation
This narrative review brings together earlier lab, pathology and population studies. Tumor DNA tests found the same mutations in endometriosis and the clear cell and endometrioid cancers next to it. The shared mutations back the idea that endometriosis can be a precursor. The authors note that the cancer risk from atypical endometriosis alone is not yet known. The findings support more research into how deep infiltrating endometriosis grows.
RRM Context
The review notes that symptom severity does not match how much disease is present. Many patients get hormone treatment without surgery, based on suspicion alone. The review names surgery with tissue exam as the gold standard for diagnosis. Restorative reproductive medicine looks for the root cause, and excision is the surgical standard for endometriosis. Excision removes the lesion tissue so it can be studied.
Our editorial summary of this paper, not the article's abstract.
Abstract
Endometriosis is a fascinating disease that we strive to better understand. Molecular techniques are shedding new light on many important aspects of this disease: from pathogenesis to the recognition of distinct disease variants like deep infiltrating endometriosis. The observation that endometriosis is a cancer precursor has now been strengthened with the knowledge that mutations that are present in endometriosis-associated cancers can be found in adjacent endometriosis lesions. Recent genomic studies, placed in context, suggest that deep infiltrating endometriosis may represent a benign neoplasm that invades locally but rarely metastasises. Further research will help elucidate distinct aberrations which result in this phenotype. With respect to identifying those patients who may be at risk of developing endometriosis-associated cancers, a combination of molecular, pathological, and inheritance markers may define a high-risk group that might benefit from risk-reducing strategies.
Endometriosis is a chronic inflammatory disease that drives pain, organ dysfunction, and infertility. How RRM-trained clinicians diagnose and treat it through excision surgery, cycle charting, and longitudinal care.
