The Role of The Surgical Pathologist in the Recognition of Hereditary Gynecologic Cancer

A wide spectrum of tumors can affect the gynecologic tract in the context of hereditary cancer syndromes. Over the past two decades, the approach to germline testing initiated by pathologic findings has evolved considerably. This shift began with the identification and integration of specific tumor characteristics and molecular pathways in the most common hereditary syndromes involving the female genital tract, namely, hereditary breast and ovarian cancer syndrome and Lynch syndrome. Subsequently, tumors linked to less common syndromes, such as Peutz-Jeghers syndrome, DICER1 syndrome, tuberous sclerosis complex, hereditary leiomyomatosis and renal cell carcinoma syndrome, and rhabdoid tumor predisposition syndrome type 2 have also been recognized. This review focuses on the clinicopathologic features of these hereditary conditions, with particular emphasis on histologic patterns and genetic testing.