Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From 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.

• Biospecimen Collection (Procedure): Undergo saliva or buccal mucosa collection
• Laboratory Biomarker Analysis (Other): Correlative studies
• Questionnaire Administration (Other): Ancillary studies

Primary outcomes

• 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.
• 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.

Secondary outcomes

• Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information [Up to 3 years]: Analyses will be descriptive in nature.

Sex: All, ages: any to 50 Years

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

• Philip Lupo, Principal investigator, Children's Oncology Group