Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.

ABSTRACT:

Background

The prognosis for Li-Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data for this patient group is lacking, challenging the development of novel therapeutic strategies. Here, we present clinical and molecular data on a retrospective cohort of pediatric LFS MB patients.

Methods

In this multinational, multicenter retrospective cohort study, LFS patients under 21 years with MB and class 5 or class 4 constitutional TP53 variants were included. TP53 mutation status, methylation subgroup, treatment, progression free- (PFS) and overall survival (OS), recurrence patterns, and incidence of subsequent neoplasms were evaluated.

Results

The study evaluated 47 LFS individuals diagnosed with MB, mainly classified as DNA methyla

SUBMITTER: Kolodziejczak AS 

PROVIDER: S-EPMC10708940 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature