Fair Douglas, Maese Luke, Chi Yueh-Yun, Li Minjie, Hawkins Douglas S, Venkatramani Rajkumar, Rudzinski Erin, Parham David, Teot Lisa, Malkin David, Plon Sharon E, Li He, Sabo Aniko, Lupo Philip J, Schiffman Joshua D
Department of Pediatrics, Division of Hematology/Oncology, University of Utah, Primary Children's Hospital, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Family Cancer Assessment Clinic, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Pediatr Blood Cancer. 2023 May 17:e30413. doi: 10.1002/pbc.30413.
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.
横纹肌肉瘤（RMS）是李-佛美尼综合征中一种已被充分描述的癌症，由种系TP53致病性变异（PVs）引起。表现为间变的RMS（anRMS）与种系TP53 PVs的高发生率相关。本研究提供了来自五项儿童肿瘤学组（COG）临床试验的大型队列（n = 239）中TP53种系PVs在RMS（3%）和anRMS（11%）中的患病率的最新估计。尽管本系列中anRMS患者种系TP53 PVs的患病率远低于先前报道，但该患病率仍然较高。对于anRMS患者，应强烈考虑对TP53 PVs进行种系评估。
