Endometriosis is a common gynecologic disease, which generally follows a benign course. Notwithstanding, several clinical and histologic studies as well as molecular data show that endometriosis could be a precursor of sporadic endometrioid and clear cell carcinomas at extrauterine loci. Several reports have implicated alterations of the hMLH1 and p16 ink4a (p16) genes, in particular hypermethylation of the promoter region, and of the PTEN gene, principally genetic mutations, in endometrial and ovarian cancers and have indicated that these alterations are already present in precancer conditions. In this report, we analyzed the methylation status of hMLH1 and p16 and the protein expression of PTEN and hMLH1 in 46 cases of endometriosis stages III and IV to better define the possible involvement of these genes in the malignant transformation of endometriosis. We found abnormal methylation of hMLH1 in 4 of the 46 cases (8.6%). In addition, these cases had no detectable hMLH1 protein expression. Regarding patients with hMLH1 alterations, 2 were classified as stage IV and 2 showed coexistent endometriosis and carcinoma. Only 1 case of endometriosis (2.17%), classified as atypical, showed abnormal methylation of p16. Reduced PTEN protein expression was detected in 7 of 46 cases (15.21%): 5 were clinically classified as stage IV, and the other 2 presented both cancer and hypermethylated hMLH1. Our preliminary study suggests that reduced expression of both hMLH1 and PTEN may be involved in the malignant evolution of endometriosis and should be used as markers of neoplastic transformation in aggressive endometriosis with elevated tumor markers. The term endometriosis strictly indicates the presence of ectopic endometrial glands and stroma outside the uterus. When endometrial tissue is instead located within the myometrium, the conventional term is adenomyosis. Endometriosis is an important clinical condition, whose principal symptoms are dysmenorrhea, deep dyspareunia and chronic pelvic pain. There is a high prevalence of endometriosis, ranging between 20% and 90%, in women with pelvic pain and/or infertility, while among multiparous women, the prevalence is very low (3.7%). 1-5 Even if endometriosis generally follows a benign course, it may show some malignant features, such as invasiveness and metastatic capacity. 6 In addition, a strict relationship between endometriosis and extrauterine clear cell and endometrioid carcinomas has been suspected as evidenced by their frequent coexistence in surgical specimens (17%). 7-9 The risk factors for endometriosis and ovarian malignancy are similar and include early menarche, regular periods, short menstrual cycles and low parity. Tubal ligation is protective for endometrioid and clear cell carcinomas of the ovary but not for serous and mucinous carcinomas. 9 Several molecular data indicate the malignant precursor role of endometriosis. Endometriosis exhibits LOH at 1 or more chromosomal loci (5q, 6q, 9p, 11q and 22q) in about 82% of cases. 10,11 Analysis of clonality in endomet...

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• MRI is increasingly used for endometriosis and chronic pelvic pain (CPP). • Magnetic resonance tractography can demonstrate microarchitectural abnormalities in sacral nerve roots. • Tractography shows altered microstructure of sacral roots affected by endometriosis and CPP. • S1-S3 fractional anisotropy values are lower in endometriosis than in healthy women. • Sacral nerve root alteration may explain the nature of endometriosis-related CPP.

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