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Monday, November 30, 2015

Lynch syndrome in the gynecologic population



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Increased public awareness on cancer prevention has focused efforts on inherited cancer predispositions. Risk assessment and mitigation are integral components in this prevention strategy. Most inherited cancer syndromes cross multiple disciplines and require a collaborative approach to management. In the gynecologic cancer arena, hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) have garnered the most attention. Inherited disorders that are associated with both colorectal cancer and gynecologic malignancies include LS and less commonly, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, and Cowden syndrome. Significantly, approximately half of women with LS will have an endometrial cancer as their sentinel malignancy with a median of 11 years prior to a colon cancer diagnosis (1). Therefore, an understanding of the associated cancers and recommended screening and management guidelines are critical to optimize patient care and ultimately outcomes. In this review, we will specifically focus on LS and its implications for the gynecologist......

.....LS-related ovarian cancer is diagnosed at a younger age than sporadic cases, and is more likely to be early stage. Endometrioid and clear cell histologies are more common in the Lynch cases. In a histopathologic study of cases with nonserous ovarian cancer, 21% were determined to have loss of mismatch repair on immunohistochemistry, and in their cohort of Lynch-associated ovarian cancers, there were no serous or mucinous cancers (11). There is very limited information regarding survival comparing the sporadic and familial cases, but it appears there are no significant differences (5,12). Synchronous primary endometrial cancer is found in approximately 22% of LS-associated ovarian cancer (5). Conversely, about 7% of patients with synchronous primary endometrial and ovarian cancer at time of diagnosis are found to have LS (13).....

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