Hereditary tumor syndromes with a possible manifestation in the female internal genital tract represent a heterogeneous group of diseases. The two most common entities are the hereditary breast and ovarian cancer syndrome, and the Lynch syndrome. The less common syndromes include the rhabdoid tumor predisposition syndrome, Cowden syndrome, tuberous sclerosis complex, DICER1 syndrome, nevoid basal cell carcinoma syndrome, Peutz-Jeghers syndrome, von Hippel-Lindau disease, and hereditary leiomyomatosis and renal cell cancer syndrome. The goal of this manuscript is to provide a comprehensive overview of those hereditary tumor syndromes which can manifest in the area of the female genital system, with an emphasis on their summary, the characteristics of the tumors which can develop in association with these syndromes, and the approach to the processing of prophylactically removed tissues and organs. The issue of Lynch syndrome screening is also discussed.
Keywords: Lynch syndrome; Peutz-Jeghers syndrome; endometrial stromal tumors; female genital tract; hereditary breast and ovarian cancer syndrome; hereditary cancer predisposition syndromes; hereditary neoplastic syndromes; immunohistochemistry; mesenchymal uterine tumors; molecular classification; smooth muscle tumors; undifferentiated uterine sarcoma.