ArticleJournal of the National Cancer Institute2021
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Article in Journal of the National Cancer Institute, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review.Journal of neuro-oncology · 2021Pooled it
- Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.Nature communications · 2026Article
- Paediatric Therapeutic Development Workshop on rhabdomyosarcoma.British journal of cancer · 2026Review
- Pediatric Rhabdomyosarcoma in the Head and Neck: An Overview.Journal of neurological surgery reports · 2026Article
- Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors.JCO precision oncology · 2026Article
- PAX3: A Driver of Normal Development and Disease.Biomolecules · 2026Review
- Review
- A rare presentation of uterine cavity embryonal rhabdomyosarcoma in a preschool girl: a case report.International journal of surgery case reports · 2026Article
- Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.JCO precision oncology · 2025Article
- Changes in multi-gene cancer panels for children: A 4-year retrospective review.Journal of genetic counseling · 2025Article
- Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.Journal of the National Cancer Institute · 2025Article
- Epidemiology, trends, and survival of ocular and orbital rhabdomyosarcoma: a nationwide study in the USA (1996-2018) : Ocular and orbital rhabdomyosarcoma in the USA.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Late Events Occurring After 5 Years in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.Pediatric blood & cancer · 2025Article
- Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.Frontiers in genetics · 2025Article
- Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.Virchows Archiv : an international journal of pathology · 2025Review
- Fusion oncogenes in rhabdomyosarcoma: model systems, mechanisms of tumorigenesis, and therapeutic implications.Frontiers in oncology · 2025Review
- A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic.Familial cancer · 2024Article
- Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundSeveral cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, to our knowledge there have been no systematic efforts to characterize the heterogeneous genetic etiologies of this often-fatal malignancy.
methodsWe performed exome-sequencing on germline DNA from 615 patients with newly diagnosed RMS consented through the Children's Oncology Group. We compared the prevalence of cancer predisposition variants in 63 autosomal-dominant cancer predisposition genes in these patients with population controls (n = 9963). All statistical tests were 2-sided.
resultsWe identified germline cancer predisposition variants in 45 RMS patients (7.3%; all FOXO1 fusion negative) across 15 autosomal dominant genes, which was statistically significantly enriched compared with controls (1.4%, P = 1.3 × 10-22). Specifically, 73.3% of the predisposition variants were found in predisposition syndrome genes previously associated with pediatric RMS risk, such as Li-Fraumeni syndrome (TP53) and neurofibromatosis type I (NF1). Notably, 5 patients had well-described oncogenic missense variants in HRAS (p.G12V and p.G12S) associated with Costello syndrome. Also, genetic etiology differed with histology, as germline variants were more frequent in embryonal vs alveolar RMS patients (10.0% vs 3.0%, P = .02). Although patients with a cancer predisposition variant tended to be younger at diagnosis (P = 9.9 × 10-4), 40.0% of germline variants were identified in those older than 3 years of age, which is in contrast to current genetic testing recommendations based on early age at diagnosis.
conclusionsThese findings demonstrate that genetic risk of RMS results from germline predisposition variants associated with a wide spectrum of cancer susceptibility syndromes. Germline genetic testing for children with RMS should be informed by RMS subtypes and not be limited to only young patients.
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