ArticleGenes, chromosomes & cancer2009
Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.
Article in Genes, chromosomes & cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Clinical Utility of CDK4/6 Inhibitors in Sarcoma: Successes and Future Challenges.JCO precision oncology · 2022Pooled it
- Analysis of molecular cytogenetic alteration in rhabdomyosarcoma by array comparative genomic hybridization.PloS one · 2014Trial
- PAX-FOXO1 fusion status drives unfavorable outcome for children with rhabdomyosarcoma: a children's oncology group report.Pediatric blood & cancer · 2013Trial
- Advances in targeted therapies for pediatric tumors.Acta pharmacologica Sinica · 2026Article
- Gene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.International journal of molecular sciences · 2026Review
- Therapeutic targeting of YOD1 disrupts the PAX-FOXO1/N-Myc feedback loop in rhabdomyosarcoma.JCI insight · 2026Article
- Spectrum and Clinical Impact of Secondary Genetic Alterations in Translocation-Associated Sarcomas.JCO precision oncology · 2025Article
- Review
- Molecular Targets in Alveolar Rhabdomyosarcoma: A Narrative Review of Progress and Pitfalls.International journal of molecular sciences · 2025Review
- Improving Individualized Rhabdomyosarcoma Prognosis Predictions Using Somatic Molecular Biomarkers.JCO precision oncology · 2025Article
- Case Report: Relapsed alveolar rhabdomyosarcoma treated with abemaciclib, temozolomide, and irinotecan in the JPCS study.Frontiers in oncology · 2025Article
- Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors.Cell genomics · 2024Article
- Improving Individualized Rhabdomyosarcoma Prognosis Predictions Using Somatic Molecular Biomarkers.medRxiv : the preprint server for health sciences · 2024Article
- Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse.NPJ precision oncology · 2023Article
- Genomic and Epigenetic Changes Drive Aberrant Skeletal Muscle Differentiation in Rhabdomyosarcoma.Cancers · 2023Review
- Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario.Pharmaceutics · 2023Review
- Targeting cyclin-dependent kinases in sarcoma treatment: Current perspectives and future directions.Frontiers in oncology · 2023Review
- An update on rhabdomyosarcoma risk stratification and the rationale for current and future Children's Oncology Group clinical trials.Pediatric blood & cancer · 2022Review
- Article
- The Small Round Cell Sarcomas Complexities and Desmoplastic Presentation.Acta cytologica · 2022Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Alveolar rhabdomyosarcoma (ARMS) is an aggressive pediatric cancer that is related to the skeletal muscle lineage and characterized by recurrent chromosomal translocations. Within the ARMS category, there is clinical and genetic heterogeneity, consistent with the premise that "primary" genetic events collaborate with "secondary" events to give rise to subsets with varying clinical features. Previous studies demonstrated that genomic amplification occurs frequently in ARMS. In the current study, we used oligonucleotide arrays to localize two common amplicons to the 2p24 and 12q13-q14 chromosomal regions. Based on the copy number array data, we sublocalized the minimum common regions of 2p24 and 12q13-q14 amplification to a 0.83 Mb region containing the DDX1 and MYCN genes, and a 0.55 Mb region containing 27 genes, respectively. Using fluorescent in situ hybridization assays to measure copy number of the 2p24 and 12q13-q14 regions in over 100 cases, we detected these amplicons in 13% and 12% of cases, respectively. Comparison with fusion status revealed that 2p24 amplification occurred preferentially in cases positive for PAX3-FOXO1 or PAX7-FOXO1 while 12q13-q14 amplification occurred preferentially in PAX3-FOXO1-positive cases. Expression studies demonstrated that MYCN was usually overexpressed in cases with 2p24 amplification while multiple genes were overexpressed in cases with 12q13-q14 amplification. Finally, although 2p24 amplification did not have a significant association with clinical outcome, 12q13-q14 amplification was associated with significantly worse failure-free and overall survival that was independent of gene fusion status.
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Registered trials
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.