Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.

ABSTRACT:

Background

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome caused by germline TP53 gene mutations. It is characterized by high risk of early-onset cancer, and has been confirmed as associated with multiple tumors clinically. So pediatricians should be more alert to LFS in children with tumors. Choroid plexus carcinoma (CPC) is a rare, malignant tumor which account for less than 1% of all central nervous system (CNS) tumors. However, when such tumorigenesis occurs, it is important to be vigilant for the presence of LFS.

Case presentation

The first patient is a 32-month-old boy admitted for convulsions and then was found intracranial space-occupying lesion. Underwent operation, he was diagnosis as choroid plexus carcinoma (WHO Grade III).

SUBMITTER: Fang Z 

PROVIDER: S-EPMC8711161 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature