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Review
. 2023 Feb 22;15(5):1400.
doi: 10.3390/cancers15051400.

Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer

Ilaria Capasso  1   2 , Angela Santoro  3 , Emanuela Lucci Cordisco  4 , Emanuele Perrone  1 , Francesca Tronconi  5 , Ursula Catena  1 , Gian Franco Zannoni  3 , Giovanni Scambia  1 , Francesco Fanfani  1 , Domenica Lorusso  6 , Simona Duranti  6
Affiliations
Review

Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer

Ilaria Capasso et al. Cancers (Basel). .

Abstract

This review provides a comprehensive update on recent evidence regarding gynecologic tumors associated with Lynch Syndrome (LS). Endometrial cancer (EC) and ovarian cancer (OC) are the first and second most common gynecologic malignancies in developed countries, respectively, and LS is estimated to be the hereditary cause in 3% of both EC and OC. Despite the increasing evidence on LS-related tumors, few studies have analyzed the outcomes of LS-related EC and OC stratified by mutational variant. This review aims to provide a comprehensive overview of the literature and comparison between updated international guidelines, to help outline a shared pathway for the diagnosis, prevention, and management of LS. Through the widespread adoption of the immunohistochemistry-based Universal Screening, LS diagnosis and identification of mutational variants could be standardized and recognized by international guidelines as a feasible, reproducible, and cost-effective method. Furthermore, the development of a better understanding of LS and its mutational variants will support our ability to better tailor EC and OC management in terms of prophylactic surgery and systemic treatment in the light of the promising results shown by immunotherapy.

Keywords: endometrial cancer; immunohistochemistry markers; lynch syndrome; microsatellite instability; mismatch repair deficiency; ovarian cancer.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 2
Figure 2
Gene-specific cancer risk and average age at diagnosis [5,45,46,50,51].
Figure 1
Figure 1
Flowchart for the identification of Lynch Syndrome by Universal Screening. IHC: immunohistochemistry; EC: endometrial cancer; CRC: colorectal cancer; MMRd: mismatch repair deficient; MMRp: mismatch repair proficient; LS: Lynch Syndrome.
See this image and copyright information in PMC

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