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| ID | Type | Description | Link |
|---|---|---|---|
| NCI-2017-01665 | Registry Identifier | CTRP (Clinical Trial Reporting Program) | |
| AEPI15N1 | Other Identifier | Childrens Oncology Group | |
| AEPI15N1 | Other Identifier | CTEP |
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| Name | Class |
|---|---|
| National Cancer Institute (NCI) | NIH |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Biospecimen Collection | Procedure | Undergo saliva or buccal mucosa collection |
|
| 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 |
| 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 |
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Inclusion Criteria:
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Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)
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| Name | Affiliation | Role |
|---|---|---|
| Philip Lupo | Children's Oncology Group | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Childrens Oncology Group | Philadelphia | Pennsylvania | 19104 | United States |
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Saliva, buccal mucosa
| Laboratory Biomarker Analysis | Other | Correlative studies |
|
| Questionnaire Administration | Other | Ancillary studies |
|
| ID | Term |
|---|---|
| D018232 | Rhabdomyosarcoma, Alveolar |
| D018233 | Rhabdomyosarcoma, Embryonal |
| ID | Term |
|---|---|
| D012208 | Rhabdomyosarcoma |
| D009217 | Myosarcoma |
| D009379 | Neoplasms, Muscle Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D012509 | Sarcoma |
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