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

Active, not recruiting

• Conditions: Embryonal Rhabdomyosarcoma; Alveolar Rhabdomyosarcoma
• Interventions: Procedure: Biospecimen Collection; Other: Laboratory Biomarker Analysis; Other: Questionnaire Administration

• Registration Number: NCT03296371
• Lead Sponsor: Children's Oncology Group

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.

Study Timeline

• Study First Submitted: 2017-09-19
• Study First Submitted QC: 2017-09-27
• Study First Posted: 2017-09-28
• Study Start: 2017-10-23
• Primary Completion: 2022-12-31
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-28
• Last Update Posted: 2025-01-30
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 900

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

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Ancillary-Correlative (biospecimen collection)	Biospecimen Collection	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.
Ancillary-Correlative (biospecimen collection)	Laboratory Biomarker Analysis	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.
Ancillary-Correlative (biospecimen collection)	Questionnaire Administration	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.

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information	Up to 3 years	Analyses will be descriptive in nature.

Trial Locations

Locations (1)

Childrens Oncology Group; 🇺🇸 Philadelphia, Pennsylvania, United States