TP53 Germline Pathogenic Variant Frequency in Anaplastic
Rhabdomyosarcoma: A Children’s Oncology Group Report
Abstract
Rhabdomyosarcoma (RMS) is a well-described cancer in Li-Fraumeni
Syndrome (LFS), resulting from germline TP53 pathogenic variants (PVs).
RMS exhibiting anaplasia (anRMS) have been associated with a high rate
of germline TP53 PVs. This study provides an updated estimate of the
prevalence of TP53 germline PVs from a large cohort of patients (n=239)
enrolled in five Children’s Oncology Group (COG) clinical trials.
Although the prevalence of germline TP53 PVs in anRMS patients in this
series is much lower than previously reported, this prevalence remains
significantly elevated. Germline genetic evaluation for TP53 PVs should
be strongly considered in patients with anRMS.