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Gynecological lesions in hereditary cancer predisposition syndromes


Authors: Pavel Dundr 1;  David Cibula 2;  Lenka Foretová 3;  Milan Macek jr. 4;  Kateřina Kopečková 5;  Luboš Petruželka 6;  Kristýna Němejcová 1;  Michaela Bártů 1;  Jan Hojný 1;  Nikola Hájková 1;  Radek Jakša 1;  Pavol Janega 7,8;  Ivana Stružinská 1
Authors‘ workplace: Ústav patologie 1. LF UK a VFN v Praze 1;  Onkogynekologické centrum, Gynekologicko-porodnická klinika 1. LF UK a VFN v Praze 2;  Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno 3;  Ústav biologie a lékařské genetiky 2. LF UK a FN Motol 4;  Onkologická klinika 2. LF UK a FN Motol 5;  Onkologická klinika 1. LF UK a VFN v Praze 6;  Ústav patologickejanatómie, Lekárská fakulta, Univerzita Komenského v Bratislave 7;  Medirex Group Academy, Trnava, n. o. 8
Published in: Čes.-slov. Patol., 57, 2021, No. 2, p. 96-104
Category: Reviews Article

Overview

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:

mesenchymal uterine tumors – smooth muscle tumors – endometrial stromal tumors – undifferentiated uterine sarcoma – immunohistochemistry – molecular classification – hereditary cancer predisposition syndromes – female genital tract – Lynch syndrome – hereditary breast and ovarian cancer syndrome – Peutz-Jeghers syndrome


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