Case Report: Successful treatment of a case of Lynch syndrome with double primary ovarian and rectal cancer.

ABSTRACT:

Background

Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer (CRC), is an autosomal dominant disorder characterized by germline variants in the mismatch repair (MMR) gene (e.g., MLH1 and MSH2) with microsatellite instability (MSI), which leads to the development of CRC in 80% of cases with LS. Proximal colon is always involved in LS. LS is accompanied by an increased risk of developing glioblastoma, gastric cancer, and colorectal, endometrial, urothelial (ureteral and bladder), small intestinal, ovarian, biliary tract, and skin tumors (keratoacanthomas and sebaceous adenomas). The U.S. Food and Drug Administration has approved the use of pembrolizumab in the treatment of solid tumors with MMR defects or high MSI. Studies have shown that CRCs with MM

SUBMITTER: Yu Z 

PROVIDER: S-EPMC12537393 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature