ArticleGenes, chromosomes & cancer2014
Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis.
Article in Genes, chromosomes & cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 155 citations in OpenAlex.
- Rhabdomyosarcoma of the head and neck in pediatric patients: a systematic review.Medicina oral, patologia oral y cirugia bucal · 2022Pooled it
- Phase II Study of Samotolisib in Children and Young Adults With Tumors Harboring Phosphoinositide 3-Kinase/Mammalian Target of Rapamycin Pathway Alterations: Pediatric MATCH APEC1621D.JCO precision oncology · 2024Trial
- Target and Agent Prioritization for the Children's Oncology Group-National Cancer Institute Pediatric MATCH Trial.Journal of the National Cancer Institute · 2017Trial
- High-Risk Rhabdomyosarcomas Feature a Convergent Cell State.Cancer research · 2026Article
- Establishment of a ZFP64::NCOA3 fusion-positive spindle cell/sclerosing rhabdomyosarcoma organoid model and evaluation of fusion-gene dependency.Human cell · 2026Article
- MYOD1 mutation drives cancer stem cell pathways and therapy-resistance in spindle cell/sclerosing rhabdomyosarcoma.Nature communications · 2026Article
- Single-cell protein activity analysis reveals aberrant myogenesis and IGF2-PI3K pathway dependencies inScience advances · 2026Article
- Exploring drug sensitivity guided individualized treatment in pediatric spindle cell/sclerosing rhabdomyosarcoma.Frontiers in pharmacology · 2026Article
- A global clinicopathologic and molecular portrait of spindle cell/sclerosing rhabdomyosarcoma with emphasis on retroperitoneal cases.Frontiers in oncology · 2026Article
- Review
- Clinicopathological and treatment response characteristics of updated rhabdomyosarcoma histomolecular subtypes: An Asian population-based study.Asia-Pacific journal of clinical oncology · 2025Article
- Rhabdomyosarcoma in children and young adults.Virchows Archiv : an international journal of pathology · 2025Review
- Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.The American journal of surgical pathology · 2024Article
- Spindle cell embryonal rhabdomyosarcoma of the prostate in an adult patient: a case report and review of the literature.The Journal of international medical research · 2024Review
- Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- The 3D chromatin landscape of rhabdomyosarcoma.NAR cancer · 2023Article
- First Reported Case of Malignant Ectomesenchymoma with p.Leu122Arg Mutation in MYOD1 Gene: Extensive Intra- and Extracranial Tumor in a 15-Year-Old Female.Head and neck pathology · 2023Article
- Biphenotypic Sinonasal Sarcoma with a Novel PAX7::PPARGC1 Fusion: Expanding the Spectrum of Gene Fusions Beyond the PAX3 Gene.Head and neck pathology · 2023Article
- Clinical-pathologic profile of head and neck rhabdomyosarcoma in children: a systematic review.Journal of the Korean Association of Oral and Maxillofacial Surgeons · 2023Review
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
7 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Sclerosing and spindle cell rhabdomyosarcoma (RMS) are rare types of RMS recently reclassified as a stand-alone pathologic entity, separate from embryonal RMS (ERMS). Although sclerosing and spindle cell RMS share clinical and morphologic features, a pathogenetic link based on shared molecular alterations has not been established. Spindle cell RMS in children have been associated with a less aggressive clinical course compared to adults. Recently, recurrent MYOD1 mutations were described in 44% of adult spindle cell RMS, but no pediatric tumors or sclerosing RMS were studied for comparison. Thus, we investigated 16 RMS (5 sclerosing and 11 spindle cell) in children and adults for the presence of MYOD1 mutations by targeted Polymerase Chain Reaction (PCR). Remarkably, all 5 sclerosing RMS and 4 of 11 spindle cell RMS showed the MYOD1 p.L122R hot-spot mutation. Of the five pediatric tumors, 2/2 sclerosing RMS and 2/3 spindle cell RMS showed MYOD1 mutations. Three of nine MYOD1-mutant RMS showed coexistent PIK3CA mutations, while no MDM2 amplifications were identified. All four pediatric MYOD1-mutated RMS patients died of the disease at 12-35 months following diagnosis. In conclusion, spindle cell and sclerosing RMS show recurrent MYOD1 mutations, in keeping with a single pathologic entity, regardless of age at presentation. This group however, is distinct from the infantile RMS associated with NCOA2 fusions. Although our study suggests that pediatric MYOD1-mutant RMS follow an aggressive behavior with high mortality, further studies are required to confirm this finding.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.