Allelo typing of Endometriosis with Adjacent Ovarian Carcinoma Reveals Evidence of a Common Lineage1

Endometriosis is a common gynecological disease in which tissue sim ilar to the endometrium proliferates at sites outside the uterine cavity. Malignant transformation of endometriosis to endometrioid and clear cell ovarian carcinomas has been documented in histolÃ3gica!studies, but no molecular genetic evidence exists to support that endometriosis is the clonal precursor of such malignancies. We examined 14 cases of endo metriosis synchronous with ovarian cancer for loss of heterozygosity on 12 chromosome arms, X chromosome inactivation, and TP53 mutation to determine whether they shared genetic alterations. In all four of the cases where the carcinoma had arisen within endometriosis and in five of the seven cases where the carcinoma was adjacent to the endometriosis, common genetic lesions were detected, consistent with a common lineage. A 77*53mutation was also detected in one case of endometriosis adjacent to carcinoma. These findings support the numerous histolÃ3gica! observa tions that endometrioid and clear cell ovarian carcinomas may arise through malignant transformation of endometriotic lesions.