Botryoid rhabdomyosarcoma
diseaseOn this page
Also known as botryoid sarcomabotryoid sarcoma (morphologic abnormality)botryoid-type embryonal rhabdomyosarcomasarcoma botryoides
Summary
Botryoid rhabdomyosarcoma (MONDO:0002578) is a disease and 2 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous, dactinomycin, and vinorelbine. A subtype of embryonal rhabdomyosarcoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | botryoid rhabdomyosarcoma |
| Mondo ID | MONDO:0002578 |
| DOID | DOID:3255 |
| NCIT | C9150 |
| SNOMED CT | 404052009 |
| UMLS | C1306574 |
| MedGen | 727079 |
| GARD | 0009398 |
| Is cancer (heuristic) | no |
Also known as: botryoid sarcoma · botryoid sarcoma (morphologic abnormality) · botryoid-type embryonal rhabdomyosarcoma · sarcoma botryoides
Disease family
This is a subtype of embryonal rhabdomyosarcoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › sarcoma › soft tissue sarcoma › rhabdomyosarcoma › embryonal rhabdomyosarcoma › botryoid rhabdomyosarcoma
Related subtypes (4): parameningeal embryonal rhabdomyosarcoma, prostate embryonal rhabdomyosarcoma, embryonal extrahepatic bile duct rhabdomyosarcoma, orbit embryonal rhabdomyosarcoma
Subtypes (3): childhood botryoid rhabdomyosarcoma, botryoid-type embryonal rhabdomyosarcoma of the vagina, adult botryoid rhabdomyosarcoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE3 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02567435 | PHASE3 | ACTIVE_NOT_RECRUITING | Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma |
| NCT04994132 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Compare Early Use of Vinorelbine and Maintenance Therapy for Patients With High Risk Rhabdomyosarcoma |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPHOSPHAMIDE ANHYDROUS | 4 | 2 |
| DACTINOMYCIN | 4 | 2 |
| VINORELBINE | 4 | 2 |
| IRINOTECAN HYDROCHLORIDE | 4 | 1 |
| TEMSIROLIMUS | 4 | 1 |
| CHEMBL4748391 | 0 | 2 |
| CHEMBL541887 | 0 | 1 |