Rhabdomyosarcoma (RMS)

Overview

Rhabdomyosarcoma is a Soft Tissue Sarcoma (parent SOFT_TISSUE). Subtypes include alveolar (ARMS), embryonal (ERMS), and spindle cell/sclerosing (SCRMS) variants.

Cohorts in the corpus

  • rms_msk_2023: 61 patients with extremity RMS treated at MSKCC January 2000–December 2021; median age 8; ~two-thirds lower extremity. MSK-IMPACT targeted DNA sequencing (410–505 genes) in 40% of patients PMID:37315267.
  • 35 paired primary/relapse RMS samples (18 FP-RMS / ARMS, 17 FN-RMS / ERMS) from MSKCC (n=20) and Institut Curie (n=15); 5-year OS 33%; 10 patients with longitudinal ctDNA analysis from 62 plasma samples PMID:37730754.

Recurrent alterations

  • 85% FOXO1 fusion–positive ARMS, 7 fusion-negative ERMS, 2 MYOD1-mutant spindle cell/sclerosing RMS PMID:37315267.
  • 70% of ARMS carried PAX3::FOXO1; remainder PAX7::FOXO1 PMID:37315267.
  • MED12 alterations, CDK4 amplifications, CDKN2A deletions each 8–17% in ARMS; CDK4/CDKN2A events mutually exclusive, enriched in acral/high-risk lesions, correlated with poor OS (P=.02) PMID:37315267.
  • WGS/WES/RNA-seq of 147 rhabdomyosarcoma tumor/normal pairs showed PAX-fusion status (PFP vs PFN) outperforms ARMS/ERMS histology for molecular classification; the RTK/RAS/PIK3CA axis is altered in 93% of WGS tumors, with NRAS, KRAS, HRAS, FGFR4, PIK3CA, and novel drivers FBXW7 (7.4% of PFN) and BCOR (7%) as recurrent targets PMID:24436047.
  • Germline WES of 372 pediatric cancer patients (Düsseldorf) included rhabdomyosarcoma cases; TP53 LP/PV carriers presented with rhabdomyosarcoma (solid tumor subgroup, 29.6% of LP/PV carriers); TP53 burden OR=32.8 (p=7.83×10⁻⁸) PMID:29489754

Subtypes

Therapeutic landscape

  • One-third localized, 18% regional nodal, 51% distant metastases at diagnosis PMID:37315267.
  • Metastatic disease (HR 2.68, P=.004), high-risk group (HR 2.78, P=.010), and age ≥10 years (HR 2.26, P=.034) significantly affected OS PMID:37315267.
  • 5-year EFS/OS: metastatic 19%/29%; nodal involvement without distant mets 43%/66% PMID:37315267.
  • CDK4/6-directed strategies for CDK4-amplified or CDKN2A-deleted extremity RMS are untested PMID:37315267.
  • Liquid biopsy (36-gene custom panel + shallow WGS) detects alterations in 88% of patients at diagnosis and 90% at relapse; ctDNA monitoring of FP-RMS is implemented in the prospective FaR-RMS trial (NCT04625907) PMID:37730754.

Sources

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