An observational study in Alveolar Rhabdomyosarcoma and Embryonal Rhabdomyosarcoma, sponsored by Children's Oncology Group. Active, not recruiting at 1 site in United States. Open to participants aged Up to 50 Years. Per ClinicalTrials.gov, last updated 2026-02-06.
Sponsored by Children's Oncology Group · Observational
This research trial studies genetic mutations in saliva or buccal mucosa samples from patients with embryonal or alveolar rhabdomyosarcoma. Identifying gene mutations may help doctors learn about the prognosis of patients with embryonal or alveolar rhabdomyosarcoma.
PRIMARY OBJECTIVES:
I. To identify novel recurrent de novo germline mutations among rhabdomyosarcoma (RMS) case-parent trios.
II. To identify the frequency of de novo germline mutations in cancer predisposition genes among RMS case-parent trios.
SECONDARY OBJECTIVES:
I. To conduct ?deep phenotyping? of children diagnosed with RMS utilizing questionnaire data and information from medical records.
OUTLINE:
Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline deoxyribonucleic acid (DNA) from saliva or buccal mucosa is evaluated via whole exome sequencing.
Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)
Inclusion Criteria:
Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.
Procedure: Biospecimen Collection · Other: Laboratory Biomarker Analysis · Other: Questionnaire Administration
Undergo saliva or buccal mucosa collection
Correlative studies
Ancillary studies
Novel recurrent de novo germline mutation identification
Will analyze de novo single-nucleotide variants (SNVs), copy-number variants (CNVs), and insertions/deletions (INDELs) obtained through next-generation exome sequencing of rhabdomyosarcoma (RMS) case-parent trios.
Time frame: Up to 3 years
Frequency of de novo germline mutations in cancer predisposition genes
Will conduct targeted sequencing using samples collected from the case and his/her parents in order to determine the prevalence of novel de novo mutations in cancer-syndrome genes associated with RMS.
Time frame: Up to 3 years
Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information
Analyses will be descriptive in nature.
Time frame: Up to 3 years
This study is active, not recruiting, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
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Rhabdomyosarcoma, Alveolar
Children's Oncology Group