Choroid plexus neoplasm

Summary

Choroid plexus neoplasm (MONDO:0016717) is a cancer (an umbrella term covering 5 Mondo subtypes) and 7 clinical trials. Top therapeutic interventions include irinotecan, cyclophosphamide anhydrous, and doxorubicin. A subtype of brain neoplasm — 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 (United States) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes
• Clinical trials: 7

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000	0.05	United States	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	choroid plexus neoplasm
Mondo ID	MONDO:0016717
Orphanet	251896
ICD-11	1959912502
NCIT	C3473
SNOMED CT	254942002
UMLS	C0085138
MedGen	38980
GARD	0020722
Anatomy (UBERON)	UBERON:0004086
Is cancer (heuristic)	yes

Also known as: choroid plexus neoplasm · choroid plexus tumor · choroid plexus tumour · neoplasm of choroid plexus · neoplasm of the choroid plexus · tumor of choroid plexus · tumor of the choroid plexus · tumour of choroid plexus · tumour of the choroid plexus

Disease family

This is a subtype of brain neoplasm. 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 body system or component › nervous system disorder › central nervous system disorder › brain disorder › brain neoplasm › choroid plexus neoplasm

Related subtypes (16): brain cancer, cerebellopontine angle tumor, olfactory nerve neoplasm, cerebellar neoplasm, childhood brain meningioma, olfactory groove meningioma, dysembryoplastic neuroepithelial tumor, hypothalamic neoplasm, optic pathway glioma, brainstem neoplasm, pineal body neoplasm, neoplasm of cerebral hemisphere, benign neoplasm of brain, primary brain neoplasm, optic tract meningioma, infratentorial neoplasm

Subtypes (5): choroid plexus cancer, adult choroid plexus neoplasm, atypical choroid plexus papilloma, childhood choroid plexus neoplasm, benign choroid plexus neoplasm

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: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	2
PHASE1	2
Not specified	2
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00500890	PHASE3	TERMINATED	Treatment of Tumors of the Choroid Plexus Epithelium
NCT01014767	PHASE3	TERMINATED	Intercontinental Multidisciplinary Registry and Treatment Optimization Study for Choroid Plexus Tumors
NCT03173950	PHASE2	COMPLETED	Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers
NCT04541082	PHASE1	RECRUITING	Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
NCT01975116	PHASE1	COMPLETED	p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors
NCT05259605	Not specified	RECRUITING	Observational Study for Assessing Treatment and Outcome of Patients With Primary Brain Tumours Using cIMPACT-NOW and 2021 WHO Classification
NCT02162732	Not specified	COMPLETED	Molecular-Guided Therapy for Childhood Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IRINOTECAN	4	3
CYCLOPHOSPHAMIDE ANHYDROUS	4	2
DOXORUBICIN	4	2
VINCRISTINE	4	2
DACTINOMYCIN	4	1
TEMOZOLOMIDE	4	1
ONC-206	1	1
CHEMBL4228794	0	1
CHEMBL4248195	0	1
CHEMBL4748391	0	1