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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