Choroid plexus carcinoma
diseaseOn this page
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:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 | Europe | Validated |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.35 | Europe | Validated |
| Point prevalence | 1-9 / 1 000 000 | Europe | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | choroid plexus carcinoma |
| Mondo ID | MONDO:0016718 |
| MeSH | C562943 |
| Orphanet | 251899 |
| DOID | DOID:5648 |
| ICD-11 | 1128449352 |
| NCIT | C4715 |
| SNOMED CT | 188292007 |
| UMLS | C0431109 |
| MedGen | 96557 |
| GARD | 0008238 |
| MedDRA | 10067478 |
| 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 tumor › neoplastic disease or syndrome › neoplasm › cancer › cardiovascular cancer › vascular cancer › choroid plexus cancer › choroid 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
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 12347 | NM_000546.6(TP53):c.742C>T (p.Arg248Trp) | TP53 | Pathogenic | reviewed by expert panel |
| 12384 | NM_000546.6(TP53):c.854A>T (p.Glu285Val) | TP53 | Pathogenic | criteria provided, single submitter |
| 438763 | NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter) | FOXO3 | other | no assertion criteria provided |
| 438777 | NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) | NF2 | other | no assertion criteria provided |
| 438779 | NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) | NSD1 | other | no 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)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| TP53 | LoF | ACC,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,WT | CIViC #45 |
| NSD1 | LoF | BLCA,CEAD,ESCA,HNSC,LUSC,MEL,MLYM,NPC,PAST,STOMACH,UCEC | |
| FOXO3 | Act | AML,MBL | CIViC #1926 |
| NF2 | LoF | CCRCC,CESC,HCC,HNSC,MEL,OVT,PAAD,PLMESO,PRCC,RCC | CIViC #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.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| TP53 | Supportive | Autosomal dominant | choroid plexus carcinoma | 12 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TP53 | Orphanet:1333 | Familial pancreatic carcinoma |
| TP53 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| TP53 | Orphanet:1501 | Adrenocortical carcinoma |
| TP53 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TP53 | Orphanet:251576 | Gliosarcoma |
| TP53 | Orphanet:251579 | Giant cell glioblastoma |
| TP53 | Orphanet:251899 | Choroid plexus carcinoma |
| TP53 | Orphanet:2807 | Papilloma of choroid plexus |
| TP53 | Orphanet:293199 | Pleomorphic rhabdomyosarcoma |
| TP53 | Orphanet:3318 | Essential thrombocythemia |
| TP53 | Orphanet:524 | Li-Fraumeni syndrome |
| TP53 | Orphanet:52688 | Myelodysplastic syndrome |
| TP53 | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| TP53 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| TP53 | Orphanet:668 | Osteosarcoma |
| TP53 | Orphanet:67038 | B-cell chronic lymphocytic leukemia |
| TP53 | Orphanet:70573 | Small cell lung cancer |
| TP53 | Orphanet:96253 | Cushing disease |
| TP53 | Orphanet:99756 | Alveolar rhabdomyosarcoma |
| TP53 | Orphanet:99757 | Embryonal rhabdomyosarcoma |
| NSD1 | Orphanet:1627 | Deletion 5q35 syndrome |
| NSD1 | Orphanet:228415 | 5q35 microduplication syndrome |
| NSD1 | Orphanet:3447 | Weaver syndrome |
| NSD1 | Orphanet:821 | Sotos syndrome |
| NF2 | Orphanet:2495 | Meningioma |
| NF2 | Orphanet:634475 | Mosaic NF2-related schwannomatosis |
| NF2 | Orphanet:637 | Full NF2-related schwannomatosis |
| NF2 | Orphanet:93921 | Full schwannomatosis |
Cohort genes → proteins
4 cohort genes, 4 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 4 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TP53 | HGNC:11998 | ENSG00000141510 | P04637 | Cellular tumor antigen p53 | gencc,clinvar |
| NSD1 | HGNC:14234 | ENSG00000165671 | Q96L73 | Histone-lysine N-methyltransferase, H3 lysine-36 specific | clinvar |
| FOXO3 | HGNC:3821 | ENSG00000118689 | O43524 | Forkhead box protein O3 | clinvar |
| NF2 | HGNC:7773 | ENSG00000186575 | P35240 | Merlin | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TP53 | Cellular tumor antigen p53 | Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence. |
| NSD1 | Histone-lysine N-methyltransferase, H3 lysine-36 specific | Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). |
| FOXO3 | Forkhead box protein O3 | Transcriptional activator that recognizes and binds to the DNA sequence 5’-[AG]TAAA[TC]A-3’ and regulates different processes, such as apoptosis and autophagy. |
| NF2 | Merlin | Probable 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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Transcription factor | 3 | 6.2× | 0.013 |
| Other/Unknown | 1 | 0.5× | 0.962 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TP53 | Transcription factor | no | p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn | |
| NSD1 | Transcription factor | no | 2.1.1.357 | PWWP_dom, SET_dom, Znf_PHD |
| FOXO3 | Transcription factor | no | Fork_head_dom, TF_fork_head_CS_2, FOXO-TAD | |
| NF2 | Other/Unknown | no | FERM_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)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 4 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ganglionic eminence | 1 |
| tendon of biceps brachii | 1 |
| ventricular zone | 1 |
| calcaneal tendon | 1 |
| colonic epithelium | 1 |
| sural nerve | 1 |
| cerebellar vermis | 1 |
| secondary oocyte | 1 |
| trabecular bone tissue | 1 |
| dorsal motor nucleus of vagus nerve | 1 |
| endometrium epithelium | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TP53 | 223 | ubiquitous | marker | ventricular zone, ganglionic eminence, tendon of biceps brachii |
| NSD1 | 235 | ubiquitous | marker | sural nerve, colonic epithelium, calcaneal tendon |
| FOXO3 | 288 | ubiquitous | marker | secondary oocyte, trabecular bone tissue, cerebellar vermis |
| NF2 | 283 | ubiquitous | marker | endometrium 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)
| Symbol | Interactor count |
|---|---|
| TP53 | 22,736 |
| FOXO3 | 4,989 |
| NF2 | 3,208 |
| NSD1 | 2,979 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| FOXO3 | TP53 | string_interaction |
Structural data
PDB: 4 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TP53 | P04637 | 313 |
| FOXO3 | O43524 | 7 |
| NF2 | P35240 | 6 |
| NSD1 | Q96L73 | 4 |
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.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Loss of function of TP53 in cancer due to loss of tetramerization ability | 1 | 2855.0× | 0.016 | TP53 |
| Regulation of TP53 Expression | 1 | 1427.5× | 0.016 | TP53 |
| Interleukin-4 and Interleukin-13 signaling | 2 | 51.4× | 0.016 | TP53, FOXO3 |
| Transcriptional activation of cell cycle inhibitor p21 | 1 | 713.8× | 0.017 | TP53 |
| RUNX3 regulates BCL2L11 (BIM) transcription | 1 | 571.0× | 0.017 | FOXO3 |
| Activation of NOXA and translocation to mitochondria | 1 | 475.8× | 0.017 | TP53 |
| RUNX3 regulates CDKN1A transcription | 1 | 407.9× | 0.017 | TP53 |
| PI5P Regulates TP53 Acetylation | 1 | 317.2× | 0.017 | TP53 |
| Activation of PUMA and translocation to mitochondria | 1 | 285.5× | 0.017 | TP53 |
| AKT phosphorylates targets in the nucleus | 1 | 285.5× | 0.017 | FOXO3 |
| Regulation of FOXO transcriptional activity by acetylation | 1 | 285.5× | 0.017 | FOXO3 |
| TP53 Regulates Transcription of Caspase Activators and Caspases | 1 | 237.9× | 0.017 | TP53 |
| TP53 Regulates Transcription of Death Receptors and Ligands | 1 | 237.9× | 0.017 | TP53 |
| Regulation of localization of FOXO transcription factors | 1 | 237.9× | 0.017 | FOXO3 |
| Urea cycle | 1 | 219.6× | 0.017 | TP53 |
| Regulation of TP53 Activity through Association with Co-factors | 1 | 203.9× | 0.017 | TP53 |
| TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain | 1 | 190.3× | 0.017 | TP53 |
| Stabilization of p53 | 1 | 190.3× | 0.017 | TP53 |
| TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest | 1 | 178.4× | 0.017 | TP53 |
| FOXO-mediated transcription of cell death genes | 1 | 178.4× | 0.017 | FOXO3 |
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 1 | 167.9× | 0.017 | TP53 |
| FOXO-mediated transcription of cell cycle genes | 1 | 167.9× | 0.017 | FOXO3 |
| Zygotic genome activation (ZGA) | 1 | 167.9× | 0.017 | TP53 |
| Regulation of NF-kappa B signaling | 1 | 158.6× | 0.017 | TP53 |
| TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest | 1 | 150.3× | 0.017 | TP53 |
| Mitochondrial unfolded protein response (UPRmt) | 1 | 150.3× | 0.017 | FOXO3 |
| SUMOylation of transcription factors | 1 | 142.8× | 0.017 | TP53 |
| RHO GTPases activate PAKs | 1 | 135.9× | 0.017 | NF2 |
| TP53 Regulates Transcription of Genes Involved in Cytochrome C Release | 1 | 135.9× | 0.017 | TP53 |
| Regulation of TP53 Activity through Methylation | 1 | 135.9× | 0.017 | TP53 |
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 term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of neural precursor cell proliferation | 2 | 842.6× | 3e-04 | FOXO3, NF2 |
| DNA damage response, signal transduction by p53 class mediator | 2 | 179.3× | 0.002 | TP53, FOXO3 |
| cellular response to glucose starvation | 2 | 168.5× | 0.002 | TP53, FOXO3 |
| tumor necrosis factor-mediated signaling pathway | 2 | 165.2× | 0.002 | TP53, FOXO3 |
| positive regulation of miRNA transcription | 2 | 145.3× | 0.002 | TP53, FOXO3 |
| positive regulation of neuron apoptotic process | 2 | 135.9× | 0.002 | TP53, FOXO3 |
| regulation of peptidyl-serine phosphorylation | 1 | 4213.0× | 0.003 | NSD1 |
| negative regulation of helicase activity | 1 | 4213.0× | 0.003 | TP53 |
| cellular response to actinomycin D | 1 | 4213.0× | 0.003 | TP53 |
| regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 1 | 4213.0× | 0.003 | TP53 |
| regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 1 | 4213.0× | 0.003 | NSD1 |
| negative regulation of G1 to G0 transition | 1 | 4213.0× | 0.003 | TP53 |
| positive regulation of DNA-templated transcription | 3 | 21.0× | 0.003 | TP53, NSD1, FOXO3 |
| initiation of primordial ovarian follicle growth | 1 | 2106.5× | 0.004 | FOXO3 |
| positive regulation of muscle atrophy | 1 | 2106.5× | 0.004 | FOXO3 |
| positive regulation of mitochondrial membrane permeability | 1 | 2106.5× | 0.004 | TP53 |
| cellular response to corticosterone stimulus | 1 | 2106.5× | 0.004 | FOXO3 |
| oligodendrocyte apoptotic process | 1 | 2106.5× | 0.004 | TP53 |
| negative regulation of glucose catabolic process to lactate via pyruvate | 1 | 2106.5× | 0.004 | TP53 |
| negative regulation of pentose-phosphate shunt | 1 | 2106.5× | 0.004 | TP53 |
| cellular response to hypoxia | 2 | 60.6× | 0.004 | TP53, FOXO3 |
| negative regulation of cell migration | 2 | 55.8× | 0.004 | FOXO3, NF2 |
| Schwann cell proliferation | 1 | 1404.3× | 0.004 | NF2 |
| regulation of gliogenesis | 1 | 1404.3× | 0.004 | NF2 |
| obsolete homolactic fermentation | 1 | 1404.3× | 0.004 | TP53 |
| signal transduction by p53 class mediator | 1 | 1404.3× | 0.004 | TP53 |
| negative regulation of miRNA processing | 1 | 1404.3× | 0.004 | TP53 |
| intrinsic apoptotic signaling pathway in response to hypoxia | 1 | 1404.3× | 0.004 | TP53 |
| response to water-immersion restraint stress | 1 | 1404.3× | 0.004 | FOXO3 |
| regulation of fibroblast apoptotic process | 1 | 1404.3× | 0.004 | TP53 |
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.
| Symbol | Example approved molecule |
|---|---|
| TP53 | NITROFURANTOIN |
| NSD1 | VENETOCLAX |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TP53 | 196 | 4 |
| NSD1 | 7 | 4 |
| FOXO3 | 0 | 0 |
| NF2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TP53 | 869 | Binding:775, ADMET:83, Functional:10, Toxicity:1 |
| NSD1 | 90 | Binding:90 |
| FOXO3 | 19 | Binding:19 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| NSD1 | 2.1.1.357, 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.
| Symbol | ChEMBL assays |
|---|---|
| TP53 | 869 |
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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | TP53, NSD1 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | FOXO3, NF2 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| FOXO3 | 19 | — |
| NF2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 8.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE1 | 6 |
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03500991 | PHASE1 | ACTIVE_NOT_RECRUITING | HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors |
| NCT04185038 | PHASE1 | RECRUITING | Study 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 |
| 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 |
| NCT03638167 | PHASE1 | COMPLETED | EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors |
| NCT04521946 | PHASE1 | WITHDRAWN | Chemotherapy and Donor Stem Transplant for the Treatment of Patients With High Grade Brain Cancer |
| NCT04994977 | PHASE1 | TERMINATED | Intra-Arterial Chemotherapy for Newly Diagnosed, Residual, or Recurrent Atypical Choroid Plexus Papilloma and Choroid Plexus Carcinoma Prior to Second-Look Surgery |
| NCT03050268 | Not specified | RECRUITING | Familial Investigations of Childhood Cancer Predisposition |
| NCT05934630 | Not specified | TERMINATED | Testing Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults With Brain Tumors |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FILGRASTIM | 4 | 1 |
| SONIDEGIB | 4 | 1 |