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

N/AActive Not RecruitingNCT03296371

Children's Oncology Group900 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

900

Conditions

Alveolar Rhabdomyosarcoma Embryonal Rhabdomyosarcoma

Interventions

Biospecimen CollectionPROCEDURE

Undergo saliva or buccal mucosa collection

Laboratory Biomarker AnalysisOTHER

Correlative studies

Questionnaire AdministrationOTHER

Ancillary studies

Eligibility

Sex: ALLMax age: 50 Years

Medical Language ↔ Plain English

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

Locations (1)

Childrens Oncology Group

Philadelphia, Pennsylvania, United States

Outcomes

Primary Outcomes

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

Secondary Outcomes

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

Data from ClinicalTrials.gov

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