Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma

Study Overview
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Brief Summary
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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
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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.

Official Title
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Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)

Conditions
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Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma

Intervention / Treatment
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* Procedure: Biospecimen Collection
* Other: Laboratory Biomarker Analysis
* Other: Questionnaire Administration


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ancillary-Correlative (biospecimen collection)<br>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<br>* Undergo saliva or buccal mucosa collection<br>Other: Laboratory Biomarker Analysis<br>* Correlative studies<br>Other: Questionnaire Administration<br>* Ancillary studies<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | Up to 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information | Analyses will be descriptive in nature. | Up to 3 years |