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Article

MYOD1 mutation drives cancer stem cell pathways and therapy-resistance in spindle cell/sclerosing rhabdomyosarcoma.

Nature communications - 3 Jun 2026

Wei Yun, Corchete Sánchez Luis Antonio, Mathavarajah Sabateeshan, Antelo Diego, Wang Shuze, Lee Jihee, Weissman Alexander Daiki, Kannambadi Devika D, Qin Qian, Danielli Sara G, Quantin Elisa J, Eng Tiffany C, Veloso Alexandra, Wang Yueyang, Neilsen Gunnlaugur P, Yan Chuan, Yang Valerie Shiwen, Patel Anand G, Koo Selene C, Odeniyide Patience, Pratilas Christine A, Rivera Miguel N, Rheinbay Esther, Langenau David M

Abstract excerpt

Tumor growth and relapse are often driven by cancer stem cells, but self-renewal mechanisms and genetic mutations that elevate their number are not fully understood. Here, we show that recurrent L122R mutation (Leucine to Argine change at amino acid 122) in the DNA-binding site of the Myogenic Differentiation 1 (MYOD1) transcription factor increases cancer stem cell frequency in aggressive Spindle cell/sclerosing...

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Share to Cell Line, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drug Resistance, Neoplasm

Share to Gene Expression Regulation, Neoplastic

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Share to Receptor Tyrosine Kinase-like Orphan Receptors

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Source

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Identifiers

PMID: 42236477
DOI: 10.1038/s41467-026-73546-7
PMCID: PMC13396186

Genes

MYOD1
ROR2
MYC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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MYOD1 mutation drives cancer stem cell pathways and therapy-resistance in spindle cell/sclerosing rhabdomyosarcoma.PMID 42236477Read ↗

Biological Role and Clinical Implications of MYOD1L122R Mutation in RhabdomyosarcomaSemantic proximity Read ↗

Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.Semantic proximity Read ↗

A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.Semantic proximity Read ↗

MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes.Semantic proximity Read ↗

MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification.Semantic proximity Read ↗

Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.Semantic proximity Read ↗

The expanding morphological and genetic spectrum of MYOD1 ‐mutant spindle cell/sclerosing rhabdomyosarcomas: a clinicopathological and molecular comparison of mutated and non‐mutated casesSemantic proximity Read ↗

Single-cell protein activity analysis reveals aberrant myogenesis and IGF2-PI3K pathway dependencies in MYOD1-mutant rhabdomyosarcoma.Semantic proximity Read ↗

Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma.Semantic proximity Read ↗

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SIX1 reprograms myogenic transcription factors to maintain the rhabdomyosarcoma undifferentiated stateSemantic proximity Read ↗

SIX1 Reprograms Myogenic Transcription Factors to Maintain the Rhabdomyosarcoma undifferentiated stateSemantic proximity Read ↗

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