Publication Date
5-17-2023
Journal
Pediatric Blood & Cancer
DOI
10.1002/pbc.30413
PMID
37194615
PMCID
PMC10654260
PubMedCentral® Posted Date
11-17-2024
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
TP53, germline, predisposition, rhabdomyosarcoma, anaplasia, Li-Fraumeni Syndrome
Abstract
Rhabdomyosarcoma (RMS) is a well-described cancer in Li-Fraumeni syndrome, resulting from germline TP53 pathogenic variants (PVs). RMS exhibiting anaplasia (anRMS) are associated with a high rate of germline TP53 PVs. This study provides updated estimates of the prevalence of TP53 germline PVs in RMS (3%) and anRMS (11%) from a large cohort (n = 239) enrolled in five Children's Oncology Group (COG) clinical trials. Although the prevalence of germline TP53 PVs in patients with anRMS in this series is much lower than previously reported, this prevalence remains elevated. Germline evaluation for TP53 PVs should be strongly considered in patients with anRMS.
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