Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (613 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (rhabdomyosarcoma, alveolar), mainly in adolescents and young adults; embryonal (rhabdomyosarcoma, embryonal), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles and Practice of Oncology, 3d ed, pp1647-9)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Rhabdomyosarcomas.
Where it fits in the MeSH classification
- Broader topics
- Myosarcoma
- Narrower topics
- Rhabdomyosarcoma, Alveolar; Rhabdomyosarcoma, Embryonal
Related concepts
- Rhabdomyosarcoma
- Alveolar
- Embryonal
Research landscape
PubMed indexes 11,983 records tagged with the MeSH heading “Rhabdomyosarcoma” (counts retrieved 2026-10-29). 1,485 of them (12.4%) were published from 2020 onward, and the busiest period so far is through 1999 with 6,105 records.
Reviews account for 1,276 records (10.6%) and meta-analyses for 17. Randomized controlled trials number 64 (0.5%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 6,105 |
| 2000-2009 | 2,134 |
| 2010-2019 | 2,259 |
| 2020 onward | 1,485 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 1,276 | 10.6% |
| Meta-analyses | 17 | 0.1% |
| Randomized controlled trials | 64 | 0.5% |
Method: PubMed query "Rhabdomyosarcoma"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cancer and oncology
Cancer research spans very different kinds of evidence. Laboratory studies in cell lines and animal models reveal mechanisms but often do not translate to patients. Early-phase trials mainly test safety and dosing, while phase 3 randomized trials and their meta-analyses are the usual basis for treatment conclusions. Outcomes also differ in meaning: tumour shrinkage, progression-free survival and overall survival are not interchangeable, and screening studies can be distorted by lead-time and overdiagnosis. When reading a result, check the cancer type and stage studied, the comparison treatment, and which outcome was measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Single-cell profiling of alveolar rhabdomyosarcoma reveals RAS pathway inhibitors as cell-fate hijackers with therapeutic relevance | 2023 | Research article Design not recorded in structured metadata | 66 | cc by PMID 36753540 · DOI · PMC9908029 |
| Single-cell transcriptomics reveals immune suppression and cell states predictive of patient outcomes in rhabdomyosarcoma | 2023 | Research article Design not recorded in structured metadata | 55 | cc by PMID 37244912 · DOI · PMC10224926 |
| Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes | 2022 | Research article Design not recorded in structured metadata | 50 | cc by PMID 35916583 · DOI · PMC9549731 |
| Therapeutic targeting of YOD1 disrupts the PAX-FOXO1/N-Myc feedback loop in rhabdomyosarcoma | 2026 | Research article Design not recorded in structured metadata | 2 | cc by PMID 41401084 · DOI · PMC12892920 |
Single-cell profiling of alveolar rhabdomyosarcoma reveals RAS pathway inhibitors as cell-fate hijackers with therapeutic relevance [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Rhabdomyosarcoma (RMS) is a group of pediatric cancers with features of developing skeletal muscle.
- Closing excerpt
- Overall, our work provides insights into the developmental states underlying aRMS aggressiveness, chemoresistance, and progression and identifies the RAS pathway as a promising therapeutic target.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (147 words)
Rhabdomyosarcoma (RMS) is a group of pediatric cancers with features of developing skeletal muscle. The cellular hierarchy and mechanisms leading to developmental arrest remain elusive. Here, we combined single-cell RNA sequencing, mass cytometry, and high-content imaging to resolve intratumoral heterogeneity of patient-derived primary RMS cultures. We show that the aggressive alveolar RMS (aRMS) subtype contains plastic muscle stem-like cells and cycling progenitors that drive tumor growth, and a subpopulation of differentiated cells that lost its proliferative potential and correlates with better outcomes. While chemotherapy eliminates cycling progenitors, it enriches aRMS for muscle stem-like cells. We screened for drugs hijacking aRMS toward clinically favorable subpopulations and identified a combination of RAF and MEK inhibitors that potently induces myogenic differentiation and inhibits tumor growth. Overall, our work provides insights into the developmental states underlying aRMS aggressiveness, chemoresistance, and progression and identifies the RAS pathway as a promising therapeutic target.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 36753540 · DOI · PMC9908029
Single-cell transcriptomics reveals immune suppression and cell states predictive of patient outcomes in rhabdomyosarcoma [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Paediatric rhabdomyosarcoma (RMS) is a soft tissue malignancy of mesenchymal origin that is thought to arise as a consequence of derailed myogenic differentiation.
- Closing excerpt
- Our study reveals the potential of therapies targeting the immune microenvironment of RMS and suggests that assessing tumour differentiation states may enable a more refined risk stratification.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (164 words)
Paediatric rhabdomyosarcoma (RMS) is a soft tissue malignancy of mesenchymal origin that is thought to arise as a consequence of derailed myogenic differentiation. Despite intensive treatment regimens, the prognosis for high-risk patients remains dismal. The cellular differentiation states underlying RMS and how these relate to patient outcomes remain largely elusive. Here, we use single-cell mRNA sequencing to generate a transcriptomic atlas of RMS. Analysis of the RMS tumour niche reveals evidence of an immunosuppressive microenvironment. We also identify a putative interaction between NECTIN3 and TIGIT, specific to the more aggressive fusion-positive (FP) RMS subtype, as a potential cause of tumour-induced T-cell dysfunction. In malignant RMS cells, we define transcriptional programs reflective of normal myogenic differentiation and show that these cellular differentiation states are predictive of patient outcomes in both FP RMS and the less aggressive fusion-negative subtype. Our study reveals the potential of therapies targeting the immune microenvironment of RMS and suggests that assessing tumour differentiation states may enable a more refined risk stratification.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37244912 · DOI · PMC10224926
Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Rhabdomyosarcomas (RMS) are mesenchyme-derived tumors and the most common childhood soft tissue sarcomas.
- Closing excerpt
- Tumors of mesenchymal origin can therefore be used to generate organoid models, relevant for a variety of preclinical and clinical research questions.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (153 words)
Rhabdomyosarcomas (RMS) are mesenchyme-derived tumors and the most common childhood soft tissue sarcomas. Treatment is intense, with a nevertheless poor prognosis for high-risk patients. Discovery of new therapies would benefit from additional preclinical models. Here, we describe the generation of a collection of 19 pediatric RMS tumor organoid (tumoroid) models (success rate of 41%) comprising all major subtypes. For aggressive tumors, tumoroid models can often be established within 4-8 weeks, indicating the feasibility of personalized drug screening. Molecular, genetic, and histological characterization show that the models closely resemble the original tumors, with genetic stability over extended culture periods of up to 6 months. Importantly, drug screening reflects established sensitivities and the models can be modified by CRISPR/Cas9 with TP53 knockout in an embryonal RMS model resulting in replicative stress drug sensitivity. Tumors of mesenchymal origin can therefore be used to generate organoid models, relevant for a variety of preclinical and clinical research questions.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 35916583 · DOI · PMC9549731
Therapeutic targeting of YOD1 disrupts the PAX-FOXO1/N-Myc feedback loop in rhabdomyosarcoma [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Fusion-positive rhabdomyosarcoma (FP-RMS), driven by PAX-FOXO1 fusion oncoproteins, represents the subtype of RMS with the poorest prognosis.
- Closing excerpt
- Collectively, our results identify that YOD1 promotes RMS progression by regulating the PAX3-FOXO1/N-Myc positive feedback loop, and highlight YOD1 inhibition as a promising therapeutic strategy that concurrently reduces the levels of both oncogenic proteins.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (149 words)
Fusion-positive rhabdomyosarcoma (FP-RMS), driven by PAX-FOXO1 fusion oncoproteins, represents the subtype of RMS with the poorest prognosis. However, the oncogenic mechanisms and therapeutic strategies of PAX-FOXO1 remain incompletely understood. Here, we discovered that N-Myc, in addition to being a classic downstream target of PAX-FOXO1, can also activate its expression and form a transcriptional complex with PAX-FOXO1, thereby markedly amplifying oncogenic signaling. The reciprocal transcriptional activation of PAX3-FOXO1 and N-Myc is critical for FP-RMS malignancy. We further identified YOD1 as a deubiquitinating enzyme that stabilizes both PAX-FOXO1 and N-Myc. Knocking down YOD1 or inhibiting it with G5 could suppress FP-RMS growth both in vitro and in vivo, through promoting the degradation of both PAX-FOXO1 and N-Myc. Collectively, our results identify that YOD1 promotes RMS progression by regulating the PAX3-FOXO1/N-Myc positive feedback loop, and highlight YOD1 inhibition as a promising therapeutic strategy that concurrently reduces the levels of both oncogenic proteins.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41401084 · DOI · PMC12892920
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Rhabdomyosarcoma [5]
- Research article Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma [6]
- Research article Rhabdomyosarcoma: review of the Children's Oncology Group (COG) Soft-Tissue Sarcoma Committee experience and rationale for current COG studies [7]
- Research article Classification of rhabdomyosarcoma and its molecular basis [8]
- Research article Molecular pathogenesis of rhabdomyosarcoma [9]
- Research article PAX3-FOXO1 fusion gene in rhabdomyosarcoma [10]
References
- Danielli SG, Porpiglia E, De Micheli AJ, Navarro N, Zellinger MJ, Bechtold I, et al.. Single-cell profiling of alveolar rhabdomyosarcoma reveals RAS pathway inhibitors as cell-fate hijackers with therapeutic relevance. . 2023. PMID 36753540 · DOI · PMC9908029
- DeMartino J, Meister MT, Visser LL, Brok M, Groot Koerkamp MJA, Wezenaar AKL, et al.. Single-cell transcriptomics reveals immune suppression and cell states predictive of patient outcomes in rhabdomyosarcoma. . 2023. PMID 37244912 · DOI · PMC10224926
- Meister MT, Groot Koerkamp MJA, de Souza T, Breunis WB, Frazer-Mendelewska E, Brok M, et al.. Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes. . 2022. PMID 35916583 · DOI · PMC9549731
- Ying W, Yu J, Wang X, Liu J, Deng B, Shao X, et al.. Therapeutic targeting of YOD1 disrupts the PAX-FOXO1/N-Myc feedback loop in rhabdomyosarcoma. . 2026. PMID 41401084 · DOI · PMC12892920
- Skapek SX, Ferrari A, Gupta AA, Lupo PJ, Butler E, Shipley J, et al.. Rhabdomyosarcoma. Nat Rev Dis Primers. 2019. PMID 30617281 · DOI · PMC7456566
- Williamson D, Missiaglia E, de Reyniès A, Pierron G, Thuille B, Palenzuela G, et al.. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol. 2010. PMID 20351326 · DOI
- Malempati S, Hawkins DS. Rhabdomyosarcoma: review of the Children's Oncology Group (COG) Soft-Tissue Sarcoma Committee experience and rationale for current COG studies. Pediatr Blood Cancer. 2012. PMID 22378628 · DOI · PMC4008325
- Parham DM, Barr FG. Classification of rhabdomyosarcoma and its molecular basis. Adv Anat Pathol. 2013. PMID 24113309 · DOI · PMC6637949
- Xia SJ, Pressey JG, Barr FG. Molecular pathogenesis of rhabdomyosarcoma. Cancer Biol Ther. 2002. PMID 12170781 · DOI
- Linardic CM. PAX3-FOXO1 fusion gene in rhabdomyosarcoma. Cancer Lett. 2008. PMID 18457914 · DOI · PMC2575376
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.