Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

ABSTRACT:

Background

Mismatch repair (MMR) deficiency can lead to constitutional mismatch repair deficiency (CMMRD) syndrome and Lynch syndrome (LS). These two genetic disorders are associated with a broad spectrum of tumor types, including a variety of brain tumors. Usually, tumors associated with LS are more common in adults and rarely occur in children. The characterizations of café-au-lait macules (CALMs) are relatively similar in CMMRD syndrome and neurofibromatosis type 1 (NF1), which often causes difficulties in the diagnosis of CMMRD syndrome.

Case description

We identified five patients with MMR gene germline mutations and tumors from the University of Hong Kong - Shenzhen Hospital (four cases) and Hong Kong Children's Hospital (one case) within a 2-year period (June 2

SUBMITTER: Li CY 

PROVIDER: S-EPMC11543129 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature