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Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted
Bo Yang1,2,3, Ryan J Schmidt1,2, Gordana Raca1,2
1Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Virchows Archiv : an International Journal of Pathology
|August 14, 2025
Summary
This study identifies new genetic mutations in pediatric embryonal rhabdomyosarcoma (ERMS), linking specific genetic alterations like chromosome 2 gain and TP53 loss to tumor characteristics and prognosis.
Area of Science:
- Pediatric Oncology
- Cancer Genomics
- Molecular Pathology
Background:
- Embryonal rhabdomyosarcoma (ERMS) is the most common pediatric soft tissue sarcoma.
- Genetic aberrations in ERMS are known but their clinicopathological significance requires further investigation.
- Integrated research correlating genetic findings with clinical features and outcomes is needed.
Purpose of the Study:
- To analyze the correlations among clinicopathological features, molecular genetic aberrations, and prognosis in pediatric ERMS.
- To expand the understanding of the genetic landscape of ERMS.
- To identify potential biomarkers for prognosis and therapeutic targets.
Main Methods:
- Collected data from 15 pediatric ERMS cases, including clinicopathological features.
- Utilized pan-cancer targeted next-generation sequencing (OncoKids® panel) and chromosomal microarray analysis.
- Performed clinical follow-up for all patients.
Main Results:
- Identified recurrent mutations in NRAS, FGFR4, and CTNNB1, and novel mutations in MAP2K1 and PPM1D.
- Observed a germline mutation in CBL associated with cartilaginous differentiation in one case.
- Found frequent gain of whole chromosome 2 (64.3%) and concurrent homozygous loss of CDKN2A/B and TP53 in a case with anaplastic features and adverse prognosis.
Conclusions:
- New mutations in MAP2K1 and PPM1D expand the known mutation spectrum of ERMS.
- A germline CBL mutation may influence cartilage differentiation in ERMS.
- Gain of chromosome 2 is a common alteration, and concurrent loss of CDKN2A/B and TP53 may indicate a poor prognosis in pediatric ERMS.
