Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)

Overview

Single-center retrospective MSK cohort of patients with extremity rhabdomyosarcoma treated between 2000 and 2021, integrating clinicopathologic features, fusion testing, and MSK-IMPACT targeted sequencing to refine risk stratification PMID:37315267.

Composition

  • 61 patients with extremity RMS treated at MSKCC, January 2000–December 2021; median age 8 years; ~two-thirds lower extremity; histology 85% FOXO1 fusion–positive ARMS, 7 fusion-negative ERMS, 2 MYOD1-mutant spindle cell/sclerosing RMS (SCRMS) PMID:37315267.

Assays / panels (linked)

Papers using this cohort

  • PMID:37315267 — de Traux de Wardin et al., Extremity Rhabdomyosarcoma: An Integrated Clinicopathologic and Genomic Study to Improve Risk Stratification.

Notable findings derived from this cohort

  • Metastatic disease, high-risk group, and age ≥10 years significantly affected OS (HR 2.68, P=.004; HR 2.78, P=.010; HR 2.26, P=.034) PMID:37315267.
  • PAX3::FOXO1 ARMS had worse prognosis and afflicted older children than PAX7::FOXO1 (HR 3.45, P=.016) PMID:37315267.
  • Most common ARMS genomic events were MED12 alterations, CDK4 amplifications, and CDKN2A deletions (each 8%–17%); CDK4 amplifications and CDKN2A deletions were mutually exclusive, enriched in acral and high-risk lesions, and correlated with poor OS (P=.02) PMID:37315267.

Sources

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