Choroid plexus carcinoma

disease
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Also known as anaplastic choroid plexus papillomacancer of choroid plexuscancer of the choroid plexuscarcinoma of choroid plexuscarcinoma of the choroid plexuscarcinoma, choroid plexus, malignantchoroid plexus cancerchoroid plexus carcinoma (morphologic abnormality)malignant neoplasm of choroid plexusmalignant neoplasm of the choroid plexusmalignant tumor of choroid plexusmalignant tumour of choroid plexus

Summary

Choroid plexus carcinoma (MONDO:0016718) is a cancer with 4 cohort genes (4 CIViC-evidence somatic drivers; 5 ClinVar predisposition records) and 8 clinical trials. Top therapeutic interventions include filgrastim and sonidegib.

At a glance

  • Classification: Cancer
  • Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
  • Cohort genes: 4
  • ClinVar variants: 5
  • Clinical trials: 8

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Annual incidence<1 / 1 000 0000.01EuropeValidated
Lifetime Prevalence1-9 / 1 000 0000.35EuropeValidated
Point prevalence1-9 / 1 000 000EuropeValidated

Identifiers

Disease identifiers

FieldValue
Canonical namechoroid plexus carcinoma
Mondo IDMONDO:0016718
MeSHC562943
Orphanet251899
DOIDDOID:5648
ICD-111128449352
NCITC4715
SNOMED CT188292007
UMLSC0431109
MedGen96557
GARD0008238
MedDRA10067478
Anatomy (UBERON)UBERON:0001886
Is cancer (heuristic)yes

Also known as: anaplastic choroid plexus papilloma · cancer of choroid plexus · cancer of the choroid plexus · carcinoma of choroid plexus · carcinoma of the choroid plexus · carcinoma, choroid plexus, malignant · choroid plexus cancer · choroid plexus carcinoma · choroid plexus carcinoma (morphologic abnormality) · malignant neoplasm of choroid plexus · malignant neoplasm of the choroid plexus · malignant tumor of choroid plexus · malignant tumour of choroid plexus

Data availability: 5 ClinVar variants · 1 GenCC gene-disease record · 1 cell line.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumorneoplastic disease or syndromeneoplasmcancercardiovascular cancervascular cancerchoroid plexus cancerchoroid plexus carcinoma

Related subtypes (1): choroid plexus meningioma

Subtypes (1): childhood choroid plexus carcinoma

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

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

3 other, 2 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
12347NM_000546.6(TP53):c.742C>T (p.Arg248Trp)TP53Pathogenicreviewed by expert panel
12384NM_000546.6(TP53):c.854A>T (p.Glu285Val)TP53Pathogeniccriteria provided, single submitter
438763NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)FOXO3otherno assertion criteria provided
438777NM_000268.4(NF2):c.575A>G (p.Tyr192Cys)NF2otherno assertion criteria provided
438779NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)NSD1otherno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 12 · Orphanet: 28 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
TP53LoFACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WTCIViC #45
NSD1LoFBLCA,CEAD,ESCA,HNSC,LUSC,MEL,MLYM,NPC,PAST,STOMACH,UCEC
FOXO3ActAML,MBLCIViC #1926
NF2LoFCCRCC,CESC,HCC,HNSC,MEL,OVT,PAAD,PLMESO,PRCC,RCCCIViC #3870

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
TP53SupportiveAutosomal dominantchoroid plexus carcinoma12

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TP53Orphanet:1333Familial pancreatic carcinoma
TP53Orphanet:145Hereditary breast and/or ovarian cancer syndrome
TP53Orphanet:1501Adrenocortical carcinoma
TP53Orphanet:210159Adult hepatocellular carcinoma
TP53Orphanet:251576Gliosarcoma
TP53Orphanet:251579Giant cell glioblastoma
TP53Orphanet:251899Choroid plexus carcinoma
TP53Orphanet:2807Papilloma of choroid plexus
TP53Orphanet:293199Pleomorphic rhabdomyosarcoma
TP53Orphanet:3318Essential thrombocythemia
TP53Orphanet:524Li-Fraumeni syndrome
TP53Orphanet:52688Myelodysplastic syndrome
TP53Orphanet:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
TP53Orphanet:667662Breast implant-associated anaplastic large cell lymphoma
TP53Orphanet:668Osteosarcoma
TP53Orphanet:67038B-cell chronic lymphocytic leukemia
TP53Orphanet:70573Small cell lung cancer
TP53Orphanet:96253Cushing disease
TP53Orphanet:99756Alveolar rhabdomyosarcoma
TP53Orphanet:99757Embryonal rhabdomyosarcoma
NSD1Orphanet:1627Deletion 5q35 syndrome
NSD1Orphanet:2284155q35 microduplication syndrome
NSD1Orphanet:3447Weaver syndrome
NSD1Orphanet:821Sotos syndrome
NF2Orphanet:2495Meningioma
NF2Orphanet:634475Mosaic NF2-related schwannomatosis
NF2Orphanet:637Full NF2-related schwannomatosis
NF2Orphanet:93921Full schwannomatosis

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence4

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
TP53HGNC:11998ENSG00000141510P04637Cellular tumor antigen p53gencc,clinvar
NSD1HGNC:14234ENSG00000165671Q96L73Histone-lysine N-methyltransferase, H3 lysine-36 specificclinvar
FOXO3HGNC:3821ENSG00000118689O43524Forkhead box protein O3clinvar
NF2HGNC:7773ENSG00000186575P35240Merlinclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
TP53Cellular tumor antigen p53Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
NSD1Histone-lysine N-methyltransferase, H3 lysine-36 specificHistone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2).
FOXO3Forkhead box protein O3Transcriptional activator that recognizes and binds to the DNA sequence 5’-[AG]TAAA[TC]A-3’ and regulates different processes, such as apoptosis and autophagy.
NF2MerlinProbable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis.

Protein-family classification

Druggable: 0 · Difficult: 3 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Transcription factor36.2×0.013
Other/Unknown10.5×0.962

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
TP53Transcription factornop53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
NSD1Transcription factorno2.1.1.357PWWP_dom, SET_dom, Znf_PHD
FOXO3Transcription factornoFork_head_dom, TF_fork_head_CS_2, FOXO-TAD
NF2Other/UnknownnoFERM_domain, Ez/rad/moesin-like, Moesin_tail_sf

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)4
unknown0

Top tissues across cohort

TissueCohort genes
ganglionic eminence1
tendon of biceps brachii1
ventricular zone1
calcaneal tendon1
colonic epithelium1
sural nerve1
cerebellar vermis1
secondary oocyte1
trabecular bone tissue1
dorsal motor nucleus of vagus nerve1
endometrium epithelium1
stromal cell of endometrium1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
TP53223ubiquitousmarkerventricular zone, ganglionic eminence, tendon of biceps brachii
NSD1235ubiquitousmarkersural nerve, colonic epithelium, calcaneal tendon
FOXO3288ubiquitousmarkersecondary oocyte, trabecular bone tissue, cerebellar vermis
NF2283ubiquitousmarkerendometrium epithelium, stromal cell of endometrium, dorsal motor nucleus of vagus nerve

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
TP5322,736
FOXO34,989
NF23,208
NSD12,979

Intra-cohort edges

ABSources
FOXO3TP53string_interaction

Structural data

PDB: 4 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
TP53P04637313
FOXO3O435247
NF2P352406
NSD1Q96L734

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 70. Enrichment computed across 4 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Loss of function of TP53 in cancer due to loss of tetramerization ability12855.0×0.016TP53
Regulation of TP53 Expression11427.5×0.016TP53
Interleukin-4 and Interleukin-13 signaling251.4×0.016TP53, FOXO3
Transcriptional activation of cell cycle inhibitor p211713.8×0.017TP53
RUNX3 regulates BCL2L11 (BIM) transcription1571.0×0.017FOXO3
Activation of NOXA and translocation to mitochondria1475.8×0.017TP53
RUNX3 regulates CDKN1A transcription1407.9×0.017TP53
PI5P Regulates TP53 Acetylation1317.2×0.017TP53
Activation of PUMA and translocation to mitochondria1285.5×0.017TP53
AKT phosphorylates targets in the nucleus1285.5×0.017FOXO3
Regulation of FOXO transcriptional activity by acetylation1285.5×0.017FOXO3
TP53 Regulates Transcription of Caspase Activators and Caspases1237.9×0.017TP53
TP53 Regulates Transcription of Death Receptors and Ligands1237.9×0.017TP53
Regulation of localization of FOXO transcription factors1237.9×0.017FOXO3
Urea cycle1219.6×0.017TP53
Regulation of TP53 Activity through Association with Co-factors1203.9×0.017TP53
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain1190.3×0.017TP53
Stabilization of p531190.3×0.017TP53
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest1178.4×0.017TP53
FOXO-mediated transcription of cell death genes1178.4×0.017FOXO3
Formation of Senescence-Associated Heterochromatin Foci (SAHF)1167.9×0.017TP53
FOXO-mediated transcription of cell cycle genes1167.9×0.017FOXO3
Zygotic genome activation (ZGA)1167.9×0.017TP53
Regulation of NF-kappa B signaling1158.6×0.017TP53
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest1150.3×0.017TP53
Mitochondrial unfolded protein response (UPRmt)1150.3×0.017FOXO3
SUMOylation of transcription factors1142.8×0.017TP53
RHO GTPases activate PAKs1135.9×0.017NF2
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release1135.9×0.017TP53
Regulation of TP53 Activity through Methylation1135.9×0.017TP53

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
regulation of neural precursor cell proliferation2842.6×3e-04FOXO3, NF2
DNA damage response, signal transduction by p53 class mediator2179.3×0.002TP53, FOXO3
cellular response to glucose starvation2168.5×0.002TP53, FOXO3
tumor necrosis factor-mediated signaling pathway2165.2×0.002TP53, FOXO3
positive regulation of miRNA transcription2145.3×0.002TP53, FOXO3
positive regulation of neuron apoptotic process2135.9×0.002TP53, FOXO3
regulation of peptidyl-serine phosphorylation14213.0×0.003NSD1
negative regulation of helicase activity14213.0×0.003TP53
cellular response to actinomycin D14213.0×0.003TP53
regulation of intrinsic apoptotic signaling pathway by p53 class mediator14213.0×0.003TP53
regulation of RNA polymerase II regulatory region sequence-specific DNA binding14213.0×0.003NSD1
negative regulation of G1 to G0 transition14213.0×0.003TP53
positive regulation of DNA-templated transcription321.0×0.003TP53, NSD1, FOXO3
initiation of primordial ovarian follicle growth12106.5×0.004FOXO3
positive regulation of muscle atrophy12106.5×0.004FOXO3
positive regulation of mitochondrial membrane permeability12106.5×0.004TP53
cellular response to corticosterone stimulus12106.5×0.004FOXO3
oligodendrocyte apoptotic process12106.5×0.004TP53
negative regulation of glucose catabolic process to lactate via pyruvate12106.5×0.004TP53
negative regulation of pentose-phosphate shunt12106.5×0.004TP53
cellular response to hypoxia260.6×0.004TP53, FOXO3
negative regulation of cell migration255.8×0.004FOXO3, NF2
Schwann cell proliferation11404.3×0.004NF2
regulation of gliogenesis11404.3×0.004NF2
obsolete homolactic fermentation11404.3×0.004TP53
signal transduction by p53 class mediator11404.3×0.004TP53
negative regulation of miRNA processing11404.3×0.004TP53
intrinsic apoptotic signaling pathway in response to hypoxia11404.3×0.004TP53
response to water-immersion restraint stress11404.3×0.004FOXO3
regulation of fibroblast apoptotic process11404.3×0.004TP53

Therapeutics

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 2

Druggability breadth: 3 of 4 evidence-associated genes (75%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
TP53NITROFURANTOIN
NSD1VENETOCLAX

Top cohort targets by molecule count

SymbolMoleculesMax phase
TP531964
NSD174
FOXO300
NF200

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4TP53
CLOTRIMAZOLE4TP53
COLCHICINE4TP53
NABUMETONE4TP53
SALMETEROL XINAFOATE4TP53
AMIODARONE HYDROCHLORIDE4TP53
FURAZOLIDONE4TP53
AMOXAPINE4TP53
RALOXIFENE HYDROCHLORIDE4TP53
NICARDIPINE HYDROCHLORIDE4TP53
SULCONAZOLE NITRATE4TP53
PYRITHIONE ZINC4TP53
LACTIC ACID4TP53
OXYMETHOLONE4TP53
CHLOROXINE4TP53
PROPIOLACTONE4TP53
CLOMIPRAMINE HYDROCHLORIDE4TP53
PHENYL AMINOSALICYLATE4TP53
THIORIDAZINE HYDROCHLORIDE4TP53
AMITRIPTYLINE HYDROCHLORIDE4TP53
ETHOPROPAZINE HYDROCHLORIDE4TP53
MECHLORETHAMINE HYDROCHLORIDE4TP53
ECONAZOLE NITRATE4TP53
TRIFLUPROMAZINE HYDROCHLORIDE4TP53
PROCHLORPERAZINE EDISYLATE4TP53
DEQUALINIUM CHLORIDE4TP53

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
TP53869Binding:775, ADMET:83, Functional:10, Toxicity:1
NSD190Binding:90
FOXO319Binding:19

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
NSD12.1.1.357, 2.1.1.362[histone H3]-lysine36 N-dimethyltransferase, [histone H4]-N-methyl-L-lysine20 N-methyltransferase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
TP53869

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

CompoundMax phaseCohort target (bioactivity)
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4TP53
CLOTRIMAZOLE4TP53
COLCHICINE4TP53
NABUMETONE4TP53
SALMETEROL XINAFOATE4TP53
AMIODARONE HYDROCHLORIDE4TP53
FURAZOLIDONE4TP53
AMOXAPINE4TP53
RALOXIFENE HYDROCHLORIDE4TP53
NICARDIPINE HYDROCHLORIDE4TP53
SULCONAZOLE NITRATE4TP53
PYRITHIONE ZINC4TP53
LACTIC ACID4TP53
OXYMETHOLONE4TP53
CHLOROXINE4TP53
PROPIOLACTONE4TP53
CLOMIPRAMINE HYDROCHLORIDE4TP53
PHENYL AMINOSALICYLATE4TP53
THIORIDAZINE HYDROCHLORIDE4TP53
AMITRIPTYLINE HYDROCHLORIDE4TP53
ETHOPROPAZINE HYDROCHLORIDE4TP53
MECHLORETHAMINE HYDROCHLORIDE4TP53
ECONAZOLE NITRATE4TP53
TRIFLUPROMAZINE HYDROCHLORIDE4TP53
PROCHLORPERAZINE EDISYLATE4TP53
DEQUALINIUM CHLORIDE4TP53

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)2TP53, NSD1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug2FOXO3, NF2

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
FOXO319
NF20

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE16
Not specified2

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03500991PHASE1ACTIVE_NOT_RECRUITINGHER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors
NCT04185038PHASE1RECRUITINGStudy of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors
NCT03434262PHASE1COMPLETEDSJDAWN: St. Jude Children’s Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors
NCT03638167PHASE1COMPLETEDEGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors
NCT04521946PHASE1WITHDRAWNChemotherapy and Donor Stem Transplant for the Treatment of Patients With High Grade Brain Cancer
NCT04994977PHASE1TERMINATEDIntra-Arterial Chemotherapy for Newly Diagnosed, Residual, or Recurrent Atypical Choroid Plexus Papilloma and Choroid Plexus Carcinoma Prior to Second-Look Surgery
NCT03050268Not specifiedRECRUITINGFamilial Investigations of Childhood Cancer Predisposition
NCT05934630Not specifiedTERMINATEDTesting Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults With Brain Tumors

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
FILGRASTIM41
SONIDEGIB41