Distribution of RET proto-oncogene variants in children with appendicitis.

ABSTRACT:

Background

In addition to patient-related systemic factors directing the immune response, the pathomechanisms of appendicitis (AP) might also include insufficient drainage leading to inflammation caused by decreased peristalsis. Genetic predisposition accounts for 30%-50% of AP. M. Hirschsprung (HSCR), also characterized by disturbed peristalsis, is associated with variants in the RET proto-oncogene. We thus hypothesized that RET variants contribute to the etiology of AP.

Methods

DNA from paraffin-embedded appendices and clinical data of 264 children were analyzed for the RET c.135A>G variant (rs1800858, NC_000010.11:g.43100520A>G). In 46 patients with gangrenous or perforated AP (GAP), peripheral blood DNA was used for RET sequencing.

Results

Germline mutations were

SUBMITTER: Schultz J 

PROVIDER: S-EPMC8830807 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature