TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.

TitleTP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.
Publication TypeJournal Article
Year of Publication2023
AuthorsFair, D, Maese, L, Chi, Y-Y, Li, M, Hawkins, DS, Venkatramani, R, Rudzinski, E, Parham, D, Teot, L, Malkin, D, Plon, SE, Li, H, Sabo, A, Lupo, PJ, Schiffman, JD
JournalPediatr Blood Cancer
Paginatione30413
Date Published2023 May 17
ISSN1545-5017
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.
DOI10.1002/pbc.30413
Alternate JournalPediatr Blood Cancer
PubMed ID37194615
PubMed Central IDPMC10654260
Grant ListU10 CA098413 / CA / NCI NIH HHS / United States
U10 CA098543 / CA / NCI NIH HHS / United States
U10 CA180886 / CA / NCI NIH HHS / United States
U10 CA180899 / CA / NCI NIH HHS / United States