MYOD1

Overview

MYOD1 is a myogenic transcription factor; activating (L122R) mutations define an aggressive spindle cell/sclerosing rhabdomyosarcoma subtype.

Alterations observed in the corpus

  • Activating mutation defining the 2 spindle cell/sclerosing rhabdomyosarcoma (SCRMS) cases in the MSKCC extremity RMS cohort (n=61) PMID:37315267.
  • MYOD1 L122R mutation noted as a marker for spindle/sclerosing RMS in a sequential multi-platform genomic study of RMS progression and relapse (n=35 tumor pairs) PMID:37730754.
  • Altered in fusion-negative rhabdomyosarcoma (PFN) as a known downstream target of the PAX3-FOXO1 fusion oncogene; pathway-level alteration (P=1.54×10⁻³) linking myogenic differentiation disruption to PFN pathogenesis PMID:24436047

Cancer types (linked)

Co-occurrence and mutual exclusivity

  • None reported.

Therapeutic relevance

  • None reported.

Open questions

  • Small sample size (n=2) limits inference about prognosis or therapy response PMID:37315267.

Sources

This page was processed by crosslinker on 2026-05-04. - PMID:24436047

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