Pleomorphic rhabdomyosarcoma

Summary

Pleomorphic rhabdomyosarcoma (MONDO:0017386) is a disease and 9 clinical trials. Top therapeutic interventions include ifosfamide, epirubicin hydrochloride, and sorafenib. A subtype of rhabdomyosarcoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000		Europe	Validated
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	pleomorphic rhabdomyosarcoma
Mondo ID	MONDO:0017386
Orphanet	293199
DOID	DOID:3250
NCIT	C4258
SNOMED CT	404054005
UMLS	C0334480
MedGen	137770
GARD	0021165
Is cancer (heuristic)	no

Also known as: pleomorphic rhabdomyosarcoma

Data availability: 4 cell lines.

Disease family

This is a subtype of 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: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › sarcoma › soft tissue sarcoma › rhabdomyosarcoma › pleomorphic rhabdomyosarcoma

Related subtypes (19): orbit rhabdomyosarcoma, spindle cell rhabdomyosarcoma, liver rhabdomyosarcoma, central nervous system rhabdomyosarcoma, mediastinum rhabdomyosarcoma, rectum rhabdomyosarcoma, gallbladder rhabdomyosarcoma, ovary rhabdomyosarcoma, breast rhabdomyosarcoma, testis rhabdomyosarcoma, rhabdomyosarcoma with mixed embryonal and alveolar features, prostate rhabdomyosarcoma, embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, vaginal rhabdomyosarcoma, uterine corpus rhabdomyosarcoma, rhabdomyosarcoma of the cervix uteri, oral rhabdomyosarcoma, rhabdomyosarcoma, embryonal, 2

Subtypes (2): childhood pleomorphic rhabdomyosarcoma, adult pleomorphic 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: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	6
PHASE1	2
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06277154	PHASE2	RECRUITING	MASCT-I Combined With Doxorubicin and Ifosfamide for First-line Treatment of Advanced Soft Tissue Sarcoma
NCT07169344	PHASE2	RECRUITING	Hypofractionated, 3-week, Preoperative Proton or X-ray Radiotherapy for Patients With Localized Soft Tissue Sarcoma
NCT07173972	PHASE2	RECRUITING	Dose-escalated, Hypofractionated, Definitive Proton Radiotherapy for Patients With Inoperable Soft Tissue Sarcoma.
NCT02050919	PHASE2	COMPLETED	Sorafenib Tosylate, Combination Chemotherapy, Radiation Therapy, and Surgery in Treating Patients With High-Risk Stage IIB-IV Soft Tissue Sarcoma
NCT03651375	PHASE2	UNKNOWN	Hypofractionated Radiotherapy With Sequential Chemotherapy in Marginally Resectable Soft Tissue Sarcomas of Extremities or Trunk Wall
NCT03989596	PHASE2	UNKNOWN	Hypofractionated Radiotherapy With Hyperthermia in Unresectable or Marginally Resectable Soft Tissue Sarcomas
NCT04420975	PHASE1	ACTIVE_NOT_RECRUITING	Nivolumab and BO-112 Before Surgery for the Treatment of Resectable Soft Tissue Sarcoma
NCT03009201	PHASE1	COMPLETED	Ribociclib and Doxorubicin in Treating Patients With Metastatic or Advanced Soft Tissue Sarcomas That Cannot Be Removed by Surgery
NCT06535997	Not specified	COMPLETED	Descriptive Cohort of French Patients Treated With Carbonetherapy Since October 2010 Outside PHRC-ETOILE

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IFOSFAMIDE	4	2
EPIRUBICIN HYDROCHLORIDE	4	1
SORAFENIB	4	1
EFROFILCON A	1	1