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

Children's Oncology Group

Status: Active, not recruiting

Conditions: Embryonal Rhabdomyosarcoma; Alveolar Rhabdomyosarcoma

Treatments: Procedure: Biospecimen Collection; Other: Laboratory Biomarker Analysis; Other: Questionnaire Administration

Study type: Observational

Funder types: NETWORK; NIH

Identifiers

NCT03296371

NCI-2017-01665 (Registry Identifier)

AEPI15N1 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 900 estimated patients

Sex: All

Ages: Under 50 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

900 participants in 1 patient group

Ancillary-Correlative (biospecimen collection)

Description:

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.

Treatment:

Other: Questionnaire Administration

Other: Laboratory Biomarker Analysis

Procedure: Biospecimen Collection