Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From 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.

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