[Endometriosis-related ovarian tumors]

Zusammenfassung Die Endometriose ist eine häufige gynäkologische Erkrankung, deren Ätiologie und Pathogenese nach wie vor unbekannt ist. Sie betrifft die genitalen Organe und das Peritoneum in unterschiedlicher Häufigkeit und kann zu ausgeprägten Symptomen, v. a. Schmerzen, und zu Infertilität führen. Eine kausale Therapie ist zwar nicht möglich, gleichwohl sind diagnostische und therapeutische Maßnahmen meistens notwendig. Sehr selten ist die Endometriose entweder mit einer Tumorerkrankung assoziiert oder führt über das Stadium der atypischen Endometriose zu einer Neoplasie. Vor allem die Ovarien sind hiervon häufig betroffen. Charakteristische endometrioseassoziierte Ovarialkarzinome sind das endometrioide und das klarzellige Adenokarzinom sowie das niedrigmaligne seröse Karzinom. Nach Ansicht einiger Autoren haben Ovarialkarzinome mit Nachweis einer Endometriose eine günstigere Prognose als solche ohne einen solchen Nachweis. Weitere Tumoren sind das Müller-Adenosarkom, das endometrioide Stromasarkom und der seromuzinöse Borderlinetumor. Neben den morphologischen Befunden sprechen auch neuere molekulare Befunde für die Entstehung der genannten Karzinome aus einer Endometriose. Sowohl beim endometrioiden als auch beim klarzelligen Adenokarzinom ist eine LOH („loss of heterozygosity“) auf verschiedenen Genloci nachweisbar. Beim endometrioiden Adenokarzinom werden Mutationen in den Genen CTNNB1 (β-Catenin), PTEN, KRAS und ARID1a beobachtet, beim klarzelligen Karzinom ebenfalls Mutationen des ARID1a-Gens, darüber hinaus solche des PIK3CA-Gens und weniger häufig Mutationen des PPP2R1A-Gens und des KRAS-Gens. Abstract Endometriosis is a frequent gynecological disease of unknown etiology and pathogenesis. It affects the gynecological organs and the peritoneum with varying frequency and can lead to severe symptoms, mainly pain and to infertility. Despite the fact that causal therapy is not feasible diagnostic and therapeutic procedures are necessary in many cases. In a small percentage of cases endometriosis is associated with neoplastic disease and in some cases it might develop into a neoplasm via the stage of atypical endometriosis, notably in the ovaries. Tumors which are most frequently associated with endometriosis are endometrioid carcinoma, clear cell carcinoma, and low grade serous carcinoma. According to some authors tumors associated with endometriosis have a better prognosis than those without. Other tumors are Mullerian adenosarcoma, endometrioid stromal sarcoma, and seromucinous borderline tumor. In addition to the morphological findings more recent molecular findings serve to demonstrate the origin of the different types of carcinoma from endometriosis. In both endometrioid and clear cell carcinoma, loss of heterozygosity (LOH) can be found in different gene loci. Mutations in CTNNB1 (beta catenin), PTEN, KRAS and ARID1a genes have been demonstrated in endometrioid carcinoma. Cases of clear cell carcinoma have been characterized by mutations of ARID1a gene, PIK3CA and less frequently PPP2R1A and KRAS. Similar content being viewed by others Literatur Ballouk F, Ross JS, Wolf BC (1994) Ovarian endometriotic cysts. An analysis of cytologic atypia and DNA ploidy patterns. Am J Clin Pathol 102:415–419 Brinton LA, Gridley G, Persson I et al (1997) Cancer risk after a hospital discharge diagnosis of endometriosis. Am J Obstet Gynecol 176:572–579 Brinton LA, Sakoda LC, Sherman ME et al (2005) Relationship of benign gynecologic diseases to subsequent risk of ovarian and uterine tumors. Cancer Epidemiol Biomarkers Prev 14:2929–2935 Clement PB (2007) The pathology of endometriosis: a survey of the many faces of a common disease emphasizing diagnostic pitfalls and unusual and newly appreciated aspects. 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Pathologe 35, 348–354 (2014). https://doi.org/10.1007/s00292-014-1949-4 Published: Issue date: DOI: https://doi.org/10.1007/s00292-014-1949-4