Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

ABSTRACT:

Background

Individuals with Lynch syndrome are at increased hereditary risk of colorectal and endometrial carcinomas with microsatellite instability (MSI-H) and mismatch repair-deficiency (dMMR), which make these tumors vulnerable to therapy with immune checkpoint inhibitors. Our aim is to assess how often other tumor types in these individuals share these characteristics.

Methods

We retrieved the full tumor history of a historical clinic-based cohort of 1745 individuals with Lynch syndrome and calculated the standardized incidence ratio for all tumor types. MSI status, somatic second hit alterations, and immunohistochemistry-based MMR status were analyzed in 236 noncolorectal and nonendometrial malignant tumors.

Results

In individuals with Lynch syndrome MSI-H/dMMR o

SUBMITTER: Elze L 

PROVIDER: S-EPMC10323896 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature