Endometriosis-associated Malignancy

Abstract

Endometriosis is a common condition in women of reproductive age. According to several epidemiological studies endometriosis may be associated with increased risk of various malignancies. However, endometriosis-associated malignancy (EAM) is defined by certain histological criteria. About 80 % of EAM have been found in the ovary, whereas 20 % are localized in extragonadal sites like intestine, rectovaginal septum, abdominal wall, pleura and others. Some authors suggest that EAM arise from atypical endometriosis as an intermediate lesion between endometriosis and cancer. Moreover, a number of genetic alterations, like loss of heterozygosity (LOH), PTEN, ARID1 A and p53 mutations have been found in both endometriosis and EAM. Endometriosis-associated ovarian cancer (EAOC) is mostly a well or intermediately differentiated tumor of endometrioid or clear cell histological sub-type. Women affected by EAOC are on average five to ten years younger than non-EAOC patients; in most of the cases EAOC is a low stage disease with favorable clinical outcome. Since EAM is a rare condition systematic data on EAM are still missing. A systematic retrospective study on endometriosis-associated malignancies (EAM study) is currently being conducted by the Endometriosis Research Foundation together with the study groups on ovarian and uterine tumors of the working group for gynecological oncology (AGO) ([e-mail]).

Zusammenfassung

Endometriose stellt eine häufige, gutartige Erkrankung der Frau im reproduktiven Alter dar. Epidemiologischen Studien zufolge gibt es eine Assoziation zwischen Endometriose und dem Risiko, an verschiedenen Malignomen zu erkranken. Die Diagnose von endometrioseassoziierten Malignomen (EAM) kann jedoch erst nach Erfüllen einiger histologischer Kriterien erfolgen. Circa 80 % der EAM entstehen im Ovar, während in 20 % der Fälle eine primär extragonadale Manifestation möglich ist (Darm, rektovaginales Septum, Bauchwand, Pleura u. a.). Eine der Entstehungstheorien besagt, dass EAM direkt aus der atypischen Endometriose entstehen. Darüber hinaus wurden bis dato zahlreiche Mutationen wie PTEN-, ARID1 A- oder p53-Mutationen sowie Heterozygotieverlust sowohl in der Endometriose als auch in EAM nachgewiesen. Ein endometrioseassoziiertes Ovarialkarzinom (EAOC) stellt meist ein gut oder mittelgradig differenziertes Karzinom vom endometroiden oder klarzelligen Typ dar. EAOC-Patientinnen sind durchschnittlich 5–10 Jahre jünger als Frauen mit Nicht-EAOC; in den meisten Fällen wird das EAOC im frühen Stadium diagnostiziert und hat eine günstige Prognose. Aufgrund des seltenen Auftretens der EAM liegen in der Literatur nur wenige systematische Studien zu dieser Entität vor. Eine retrospektive Studie zur Charakterisierung endometrioseassoziierter Malignome (EAM-Studie) wird aktuell von der Stiftung Endometrioseforschung gemeinsam mit den Kommissionen Ovar und Uterus der Arbeitsgemeinschaft Gynäkologische Onkologie (AGO) durchgeführt ([e-mail]).

Key words

endometriosis - ovarian cancer - endometriosis-associated malignancy - atypical endometriosis - malignant transformation

Schlüsselwörter

Endometriose - Ovarialkarzinom - Endometriose-assoziierte Malignome - atypische Endometriose - maligne Transformation

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