extraskeletal Ewing sarcoma

Summary

extraskeletal Ewing sarcoma (MONDO:0018270) is a cancer and 10 clinical trials. Top therapeutic interventions include dupilumab, mepolizumab, and topotecan hydrochloride. A subtype of Ewing sarcoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Prevalence: <1 / 1 000 000 (Austria) [Orphanet-validated]
• Clinical trials: 10

Clinical features

Epidemiology

Prevalence records

22 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000	0.077	Austria	Validated
Annual incidence	<1 / 1 000 000	0.056	Belgium	Validated
Annual incidence	<1 / 1 000 000	0.01	Bulgaria	Validated
Annual incidence	<1 / 1 000 000	0.023	Croatia	Validated
Annual incidence	<1 / 1 000 000	0.052	Czech Republic	Validated
Annual incidence	<1 / 1 000 000	0.083	Estonia	Validated
Annual incidence	<1 / 1 000 000	0.071	Germany	Validated
Annual incidence	<1 / 1 000 000	0.055	Ireland	Validated
Annual incidence	<1 / 1 000 000	0.068	Italy	Validated
Annual incidence	<1 / 1 000 000	0.043	Latvia	Validated
Annual incidence	<1 / 1 000 000	0.05	Lithuania	Validated
Annual incidence	<1 / 1 000 000	0.076	Norway	Validated
Annual incidence	<1 / 1 000 000	0.018	Poland	Validated
Annual incidence	<1 / 1 000 000	0.092	Portugal	Validated
Annual incidence	<1 / 1 000 000	0.081	Slovenia	Validated
Annual incidence	<1 / 1 000 000	0.087	Spain	Validated
Annual incidence	<1 / 1 000 000	0.056	Switzerland	Validated
Annual incidence	<1 / 1 000 000	0.089	Netherlands	Validated
Annual incidence	<1 / 1 000 000	0.058	United Kingdom	Validated
Annual incidence	1-9 / 1 000 000	0.112	Finland	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	extraskeletal Ewing sarcoma
Mondo ID	MONDO:0018270
Orphanet	370334
DOID	DOID:4232
ICD-11	489162074
NCIT	C7135
UMLS	C0279980
MedGen	76053
GARD	0017600
Is cancer (heuristic)	yes

Also known as: EOE · Extra-osseous Ewing’s sarcoma · extraosseous Ewing sarcoma · extraosseous Ewing tumor · extraosseous Ewing tumour · extraosseous Ewing’s sarcoma · extraosseous Ewing’s sarcoma/peripheral primitive neuroectodermal tumour · extraosseous Ewing’s tumor · extraosseous Ewing’s tumour · extraskeletal Ewing sarcoma · extraskeletal Ewing tumor · extraskeletal Ewing tumour · extraskeletal Ewing’s sarcoma

Data availability: 6 cell lines.

Disease family

This is a subtype of Ewing sarcoma. 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 › disease of genetic or genomic mechanism › hereditary disease › Ewing sarcoma › extraskeletal Ewing sarcoma

Related subtypes (1): Ewing sarcoma of bone

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: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	4
Not specified	4
PHASE4	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06352073	PHASE4	ACTIVE_NOT_RECRUITING	Dupilumab for Eosinophilic Esophagitis With Severe Strictures
NCT07588568	PHASE2	NOT_YET_RECRUITING	A Trial of Upadacitinib for Non-responsive Eosinophilic Esophagitis
NCT00516295	PHASE2	COMPLETED	Vincristine Sulfate, Topotecan Hydrochloride, and Cyclophosphamide With or Without Bevacizumab in Treating Young Patients With Refractory or First Recurrent Extracranial Ewing Sarcoma
NCT01222767	PHASE2	COMPLETED	Study of Zalypsis® (PM00104) in Patients With Unresectable Locally Advanced and/or Metastatic Ewing Family of Tumors (EFT) Progressing After at Least One Prior Line of Chemotherapy
NCT03656380	PHASE2	COMPLETED	Mepo for Eosinophilic Esophagitis (EoE) Study
NCT01825902	EARLY_PHASE1	COMPLETED	18F-FLT Positron Emission Tomography and Diffusion-Weighted Magnetic Resonance Imaging in Planning Surgery and Radiation Therapy and Measuring Response in Patients With Newly Diagnosed Ewing Sarcoma
NCT06526897	Not specified	NOT_YET_RECRUITING	Evaluation of Chest CT Versus Chest X-Ray for Lung Surveillance After Curative-Intent Resection of High-Risk Truncal-Extremity Soft Tissue Sarcoma
NCT01795430	Not specified	WITHDRAWN	Whole-Body Radiation Therapy, Systemic Chemotherapy, and High-Dose Chemotherapy Followed By Stem Cell Rescue in Treating Patients With Poor-Risk Ewing Sarcoma
NCT02114606	Not specified	TERMINATED	Diagnosis and Monitoring of Eosinophilic Esophagitis Using the Cytosponge
NCT05543512	Not specified	COMPLETED	The Immune Directed Individualized Elimination Therapy (iDIET) Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DUPILUMAB	4	1
MEPOLIZUMAB	4	1
TOPOTECAN HYDROCHLORIDE	4	1
PM-00104	2	1