Medulloepithelioma

Summary

Medulloepithelioma (MONDO:0003144) is a disease and 5 clinical trials. Top therapeutic interventions include carboplatin, eflornithine hydrochloride, and etoposide phosphate. A subtype of central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	medulloepithelioma
Mondo ID	MONDO:0003144
Orphanet	251883
DOID	DOID:4790
ICD-11	1078680756
NCIT	C4327
SNOMED CT	715903004
UMLS	C5231013
MedGen	1702218
GARD	0020721
Is cancer (heuristic)	no

Also known as: central nervous system medulloepithelioma · MDEP · medulloepithelioma NOS (morphologic abnormality) · medulloepithelioma of the central nervous system · medulloepithelioma, central nervous system

Disease family

This is a subtype of central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor. 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 › nervous system cancer › central nervous system cancer › central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor › medulloepithelioma

Related subtypes (3): esthesioneuroblastoma, ependymoblastoma, embryonal tumor with multilayered rosettes

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE1/PHASE2	1
PHASE1	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00983398	PHASE1/PHASE2	UNKNOWN	Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors
NCT03434262	PHASE1	COMPLETED	SJDAWN: St. Jude Children’s Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors
NCT06942039	EARLY_PHASE1	RECRUITING	Pilot Study of IT Topotecan and Maintenance Chemotherapy for HR-EBTs in Children < 6 Years, Post Consolidation
NCT03581240	Not specified	AVAILABLE	An Intermediate Expanded Use Trial of DFMO
NCT00565903	Not specified	COMPLETED	Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CARBOPLATIN	4	2
EFLORNITHINE HYDROCHLORIDE	4	1
ETOPOSIDE PHOSPHATE	4	1
MANNITOL	4	1
SODIUM THIOSULFATE	4	1
SONIDEGIB	4	1
SORBITOL	4	1
CHEMBL3753202	0	1