Embryonal Rhabdomyosarcoma (ERMS)

Overview

Embryonal Rhabdomyosarcoma is a Soft Tissue Sarcoma subtype of RMS, typically fusion-negative.

Cohorts in the corpus

• rms_msk_2023: 7 fusion-negative ERMS cases within the 61-patient extremity RMS cohort at MSK PMID:37315267.

Recurrent alterations

• ERMS in this cohort is fusion-negative (FOXO1-negative) PMID:37315267.
• FN-RMS (ERMS): TP53 loss-of-function in 41%, BCOR alterations in 30%, RAS/PIK3CA pathway alterations in 5/17 cases PMID:37730754.
• SMARCA2 missense mutations and frameshift deletions (24%) found exclusively at relapse in FN-RMS; FN-RMS acquired an average of 4.3 new alterations per patient at relapse (range 0–17) PMID:37730754.
• PAX-fusion-negative (PFN) rhabdomyosarcomas — the dominant ERMS genotype — accumulate ~17.8 non-synonymous somatic mutations/tumor (vs 6.4 in PFP, P=2×10⁻⁴) and concentrate hits in NRAS (11.7%), FGFR4 (9.6%), PIK3CA (7.4%), FBXW7 (7.4%), KRAS (6.4%), BCOR (7%), and TP53 (5.3%) PMID:24436047.
• PIPseq cohort included embryonal RMS cases; FGFR4 hotspot mutations G528C, V550L, R650L identified in two RMS patients as FGFR4-inhibitor targets; NRAS activating mutations also present in RMS cases PMID:28007021

Subtypes

• Fusion-negative ERMS is contrasted with FOXO1 fusion–positive ARMS and MYOD1-mutant spindle cell/sclerosing RMS (SCRMS) PMID:37315267.

Therapeutic landscape

• Treated under sequential COG/institutional RMS protocols at MSKCC PMID:37315267.

Sources

• PMID:37315267

• PMID:37730754

• PMID:24436047

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