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Article

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

Science advances - 27 Feb 2026

Dermawan Josephine K, Vanoli Fabio, de Traux de Wardin Henry, Levi Jonathan N, Sanchez Glorymar Ibanez, Siddiquee Armaan, Brosius Samantha, You Daoqi, Tirode Franck, Sung Patricia, Karanian Marie, Pissaloux Daniel, Wexler Leonard H, Kung Andrew, Soragni Alice, Dela Cruz Filemon S, Pavisic Jovana, Antonescu Cristina R

Abstract excerpt

Myogenic differentiation 1 (MYOD1)L122R-mutant spindle cell rhabdomyosarcoma (SRMS) is an ultrarare, treatment-resistant sarcoma with dismal outcomes. We performed regulatory network analysis of single-nucleus RNA sequencing (snRNA-seq) from six patient tumors, revealing disrupted myogenesis and actionable master regulator (MR) dependencies across three coexisting tumor cell states, also conserved in...

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Share to Cell Line, Tumor
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41758938
DOI: 10.1126/sciadv.aea6453
PMCID: PMC12947870

Genes

MYOD1
IGF2
IGF1R
IGF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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