Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma
Conditions
Brief summary
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.
Detailed description
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.
Interventions
PROCEDUREBiospecimen Collection
Undergo saliva or buccal mucosa collection
OTHERLaboratory Biomarker Analysis
Correlative studies
OTHERQuestionnaire Administration
Ancillary studies
Sponsors
Children's Oncology Group
National Cancer Institute (NCI)
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 50 Years
Healthy volunteers
No
Inclusion criteria
* The patient must be enrolled on ACCRN07 and/or APEC14B1 and registered with COG by a North American member institution * The patient must have a diagnosis of embryonal rhabdomyosarcoma or alveolar rhabdomyosarcoma * The patient must be diagnosed with rhabdomyosarcoma between January 1, 2012 and November 30, 2019 * Concomitant treatment on a therapeutic trial is not required * The patient must have at least one biological parent alive and willing to participate * All questionnaire respondents must understand English or Spanish * All patients and/or their parents or legal guardians must sign a written informed consent * All institutional, Food and Drug Administration (FDA), and National Cancer Institute (NCI) requirements for human studies must be met
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of de novo germline mutations in cancer predisposition genes | Up to 3 years | 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. |
| Novel recurrent de novo germline mutation identification | Up to 3 years | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information | Up to 3 years | Analyses will be descriptive in nature. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORPhilip Lupo
Children's Oncology Group
Outcome results
None listed