Special features of sarcomas developed in patients with Lynch syndrome: A systematic review

• Published in: Critical reviews in oncology/hematology 2023-08, Vol.188, p.104055-104055, Article 104055
• Main Authors: Poumeaud, François, Valentin, Thibaud, Vande Perre, Pierre, Jaffrelot, Marion, Bonnet, Delphine, Chibon, Frédéric, Chevreau, Christine, Selves, Janick, Guimbaud, Rosine, Fares, Nadim
• Format: Article
• Language: English
• Subjects: Lynch syndrome; MSH2; Rhabdomyosarcoma; Sarcomas
• ISSN: 1040-8428; 1879-0461
• DOI: 10.1016/j.critrevonc.2023.104055

Lynch syndrome (LS) is a genetic predisposition leading to colorectal and non-colorectal tumors such as endometrial, upper urinary tract, small intestine, ovarian, gastric, biliary duct cancers and glioblastoma. Though not classically associated with LS, growing literature suggests that sarcomas might develop in patients with LS. This systematic review of literature identified 44 studies (N = 95) of LS patients who developed sarcomas. It seems that most sarcomas developed in patients with a germline mutation of MSH2 (57 %) exhibit a dMMR (81 %) or MSI (77 %) phenotype, as in other LS-tumors. Although undifferentiated pleomorphic sarcoma (UPS), leiomyosarcoma, and liposarcoma remain the most represented histologic subtype, a higher proportion of rhabdomyosarcoma (10 %, especially pleomorphic rhabdomyosarcoma) is reported. Further studies are required to better characterize this sub-population. with the courtesy of (Sajjadi et al., 2021). [Display omitted] •Literature suggests that sarcomas might develop in patients with Lynch syndrome (LS).•Most sarcomas developed in patients with a germline mutation of MSH2 (57 %) exhibit a dMMR (81 %) or MSI (77 %) phenotype.•Undifferentiated pleomorphic sarcoma (UPS), leiomyosarcoma, and liposarcoma are the most represented histologic subtype.•Unusual proportion of pleomorphic rhabdomyosarcomas (10 %) is reported.