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

Crit Rev Oncol Hematol. 2023 Aug:188:104055. doi: 10.1016/j.critrevonc.2023.104055. Epub 2023 Jun 8.


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.

Keywords: Lynch syndrome; MSH2; Rhabdomyosarcoma; Sarcomas.

Publication types

  • Systematic Review
  • Review

MeSH terms

  • Colorectal Neoplasms* / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / pathology
  • DNA Mismatch Repair
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Microsatellite Instability
  • Rhabdomyosarcoma*
  • Sarcoma* / diagnosis
  • Sarcoma* / epidemiology
  • Sarcoma* / etiology