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

Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Alveolar Rhabdomyosarcoma; Embryonal Rhabdomyosarcoma
• Intervention / Treatment: Other: Laboratory Biomarker Analysis; Other: Questionnaire Administration; Procedure: Biospecimen Collection

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 Type: Observational
• Enrollment (Estimated): 900

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Childrens Oncology Group

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 50 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Ancillary-Correlative (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.	Other: Laboratory Biomarker Analysis; Correlative studies; Other: Questionnaire Administration; Ancillary studies; Procedure: Biospecimen Collection; Undergo saliva or buccal mucosa collection

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Children's Oncology Group
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Philip Lupo, Children's Oncology Group

Study record dates

Study Major Dates

• Study Start (Actual): October 23, 2017
• Primary Completion (Actual): December 31, 2022
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: September 19, 2017
• First Submitted That Met QC Criteria: September 27, 2017
• First Posted (Actual): September 28, 2017

Study Record Updates

• Last Update Posted (Estimated): February 13, 2024
• Last Update Submitted That Met QC Criteria: February 12, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma; Neoplasms, Muscle Tissue; Myosarcoma; Rhabdomyosarcoma; Rhabdomyosarcoma, Alveolar; Rhabdomyosarcoma, Embryonal
• Other Study ID Numbers: AEPI15N1 (Other Identifier: CTEP); NCI-2017-01665 (Registry Identifier: CTRP (Clinical Trial Reporting Program))

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No