Introduction/Background*Deep infiltrating endometriosis is an interesting rare subtype of endometriosis which was recently subjected to genomic evaluation. There are three major subtypes of endometriosis up to date, ovarian endometrioma (OMA), superficial peritoneal endometriosis (SPE), and deep infiltrating endometriosis (DIE).Deep endometriosis has the particular nature to locally invade surrounding structures such as bowel, bladder and ureter) but rarely metastasizes. The present knowledge indicates that hormonal function and immunological factors, such as peritoneal macrophages, natural killer cells, and lymphocytes, are sensibly altered in DIE.Invasive mechanisms are more expressed in DIE in comparison to the OMA and SPE. Correlated with the increased invasiveness are the data on very high expression of neuroangiogenesis genes in DIE.
Methodology Our aim was to evaluate the latest data that can correlate the microenvironment of deep infiltrating endometriosis (DIE) with the one of endometrial cancer, discuss the possibility that perhaps even the deep-infiltrating subtype of endometriosis, which demonstrates unequivocal invasion of surrounding tissues, may be more appropriately considered a neoplasm than a benign condition and review the latest treatment algorithm
Result(s)*Three recent studies demonstrated commonly occurring epithelial mutations in PIK3CA and ARID1A in endometriosis that are uniquely shared with clear cell and endometrioid ovarian epithelial cancers. The cytochrome P450 enzyme CYP1B1 convert estrogens to 4-hydroxy-catechol estrogens and, eventually, their depurinating quinone metabolites that cause DNA adducts leading to mutagenic apurinic sites .This would lead to accumulation of additional mutations during epithelial cell division. The estimated rate of malignant transformation for endometriosis is close to 1%, and recent results suggest that the presence of driver mutations alone is neither sufficient to drive the transformation of endometriosis nor indicative of likely progression to cancer.
Conclusion*: Massive concentrations of estrogen in the ovary may exert a direct genotoxic effect on DNA of ectopic endometrial (endometriotic) epithelial cells.. Endometriosis is widely considered to be a benign disorder both clinically and a histopathologically. Well-known cancer-associated somatic mutations were found in the glandular epithelium of some deep infiltrating endometriosis lesions. These are exciting findings that share new light on all forms of endometriosis and their association with endometrial cancer.
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