Title | TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report. |
Publication Type | Journal Article |
Year of Publication | 2023 |
Authors | Fair, 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 |
Journal | Pediatr Blood Cancer |
Pagination | e30413 |
Date Published | 2023 May 17 |
ISSN | 1545-5017 |
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. |
DOI | 10.1002/pbc.30413 |
Alternate Journal | Pediatr Blood Cancer |
PubMed ID | 37194615 |
PubMed Central ID | PMC10654260 |
Grant List | U10 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 |