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Allelotyping of Endometriosis with Adjacent Ovarian Carcinoma Reveals Evidence of a Common Lineage¹

Obstetrics and Gynecology, University of Southampton, Princess Anne Hospital, Southampton SO16 5YA [X. J., S. J. M., E. J. T., I. G. C.], and Department of Histopathology, Southampton General Hospital, Southampton SO16 6YD [A. H.], United Kingdom

Endometriosis is a common gynecological disease in which tissue similar 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 histological studies, but no molecular genetic evidence exists to support that endometriosis is the clonal precursor of such malignancies. We examined 14 cases of endometriosis synchronous with ovarian cancer for loss of heterozygosity on 12 chromosome arms, X chromsome 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 TP53 mutation was also detected in one case of endometriosis adjacent to carcinoma. These findings support the numerous histological observations that endometrioid and clear cell ovarian carcinomas may arise through malignant transformation of endometriotic lesions.

¹ Supported by grants from Wellbeing and The Wessex Medical Trust.

² To whom reprints should be addressed, at Obstetrics and Gynaecology, University of Southampton, Level F, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.

Received 9/18/97. Accepted 2/18/98.

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