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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-10-23

Study Completion Date

2025-12-31

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.

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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.

Conditions

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Alveolar Rhabdomyosarcoma Embryonal Rhabdomyosarcoma

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Biospecimen Collection

Intervention Type PROCEDURE

Undergo saliva or buccal mucosa collection

Laboratory Biomarker Analysis

Intervention Type OTHER

Correlative studies

Questionnaire Administration

Intervention Type OTHER

Ancillary studies

Interventions

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Biospecimen Collection

Undergo saliva or buccal mucosa collection

Intervention Type PROCEDURE

Laboratory Biomarker Analysis

Correlative studies

Intervention Type OTHER

Questionnaire Administration

Ancillary studies

Intervention Type OTHER

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

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No