Childhood ependymoma

disease
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Also known as ependymomaependymoma of childhoodpaediatric ependymomapediatric ependymoma

Summary

Childhood ependymoma (MONDO:0003478) is a disease with 1 cohort gene and 121 clinical trials. Molecularly, SEC61G::EGFR Fusion confers sensitivity to Gefitinib in Childhood Ependymoma (CIViC Level A); 1 further subtype–drug associations are mapped below. Top therapeutic interventions include carboplatin, larotrectinib, and lapatinib.

At a glance

  • Cohort genes: 1
  • Clinical trials: 121
  • Precision-medicine evidence (CIViC): 2 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namechildhood ependymoma
Mondo IDMONDO:0003478
MeSHC531673
DOIDDOID:5509
NCITC8578
UMLSC1851584
MedGen343609
GARD0023523
Is cancer (heuristic)no

Also known as: childhood ependymoma · ependymoma · ependymoma of childhood · paediatric ependymoma · pediatric ependymoma

Data availability: 12 cell lines · 1 intOGen driver record.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: human disease › disease by etiologic mechanism › cancer or benign tumorneoplastic disease or syndromeneoplasmnervous system neoplasmneuroepithelial neoplasmgliomaependymal tumorependymomachildhood ependymoma

Related subtypes (7): cellular ependymoma, spinal cord ependymoma, tanycytic ependymoma, papillary ependymoma, clear cell ependymoma, brain stem ependymoma, low grade ependymoma

Subtypes (1): pediatric supratentorial ependymoma

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

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
ERBB2Orphanet:213726Serous carcinoma of the corpus uteri
ERBB2Orphanet:2800Extramammary Paget disease
ERBB2Orphanet:388Hirschsprung disease
ERBB2Orphanet:99976Adenocarcinoma of the oesophagus and oesophagogastric junction

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
civic_only1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ERBB2HGNC:3430ENSG00000141736P04626Receptor tyrosine-protein kinase erbB-2civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ERBB2Receptor tyrosine-protein kinase erbB-2Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ERBB2Kinaseyes2.7.10.1Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)1
unknown0

Top tissues across cohort

TissueCohort genes
lower esophagus mucosa1
right uterine tube1
sural nerve1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ERBB2276ubiquitousmarkerlower esophagus mucosa, right uterine tube, sural nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
ERBB29,659

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
ERBB2P0462663

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 33. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
PLCG1 events in ERBB2 signaling12855.0×0.001ERBB2
Drug-mediated inhibition of ERBB2 signaling12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to trastuzumab12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to sapitinib12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to tesevatinib12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to neratinib12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to osimertinib12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to afatinib12855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to AEE78812855.0×0.001ERBB2
Resistance of ERBB2 KD mutants to lapatinib12855.0×0.001ERBB2
Drug resistance in ERBB2 TMD/JMD mutants12855.0×0.001ERBB2
GRB7 events in ERBB2 signaling11903.3×0.001ERBB2
Constitutive Signaling by Overexpressed ERBB21951.7×0.002ERBB2
Downregulation of ERBB2:ERBB3 signaling1815.7×0.002ERBB2
ERBB2 Activates PTK6 Signaling1815.7×0.002ERBB2
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors1761.3×0.002ERBB2
Developmental Lineage of Mammary Stem Cells1761.3×0.002ERBB2
ERBB2 Regulates Cell Motility1713.8×0.002ERBB2
PI3K events in ERBB2 signaling1671.8×0.002ERBB2
Signaling by ERBB2 ECD mutants1671.8×0.002ERBB2
GRB2 events in ERBB2 signaling1634.4×0.002ERBB2
Sema4D induced cell migration and growth-cone collapse1571.0×0.003ERBB2
Developmental Lineage of Mammary Gland Myoepithelial Cells1543.8×0.003ERBB2
SHC1 events in ERBB2 signaling1475.8×0.003ERBB2
Signaling by ERBB2 TMD/JMD mutants1475.8×0.003ERBB2
Developmental Lineage of Mammary Gland Luminal Epithelial Cells1456.8×0.003ERBB2
Signaling by ERBB2 KD Mutants1423.0×0.003ERBB2
Downregulation of ERBB2 signaling1380.7×0.003ERBB2
Signaling by ERBB21346.1×0.003ERBB2
Constitutive Signaling by Aberrant PI3K in Cancer1126.9×0.009ERBB2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
immature T cell proliferation in thymus13370.4×0.004ERBB2
negative regulation of immature T cell proliferation in thymus12808.7×0.004ERBB2
ERBB2-ERBB4 signaling pathway12808.7×0.004ERBB2
regulation of microtubule-based process11872.4×0.004ERBB2
ERBB2-ERBB3 signaling pathway11685.2×0.004ERBB2
ERBB2-EGFR signaling pathway11685.2×0.004ERBB2
enzyme-linked receptor protein signaling pathway11296.3×0.004ERBB2
Schwann cell development11053.2×0.005ERBB2
neurotransmitter receptor localization to postsynaptic specialization membrane1802.5×0.005ERBB2
motor neuron axon guidance1702.2×0.005ERBB2
positive regulation of MAP kinase activity1648.1×0.005ERBB2
positive regulation of transcription by RNA polymerase I1648.1×0.005ERBB2
positive regulation of Rho protein signal transduction1581.1×0.005ERBB2
regulation of ERK1 and ERK2 cascade1581.1×0.005ERBB2
positive regulation of protein targeting to membrane1561.7×0.005ERBB2
neuromuscular junction development1526.6×0.005ERBB2
peptidyl-tyrosine phosphorylation1421.3×0.005ERBB2
regulation of angiogenesis1421.3×0.005ERBB2
oligodendrocyte differentiation1421.3×0.005ERBB2
semaphorin-plexin signaling pathway1401.2×0.005ERBB2
cellular response to growth factor stimulus1318.0×0.006ERBB2
cellular response to epidermal growth factor stimulus1318.0×0.006ERBB2
positive regulation of cell adhesion1271.8×0.006ERBB2
myelination1251.5×0.006ERBB2
epidermal growth factor receptor signaling pathway1247.8×0.006ERBB2
positive regulation of epithelial cell proliferation1244.2×0.006ERBB2
wound healing1227.7×0.006ERBB2
positive regulation of translation1227.7×0.006ERBB2
phosphatidylinositol 3-kinase/protein kinase B signal transduction1210.7×0.007ERBB2
positive regulation of cell growth1183.2×0.007ERBB2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
ERBB2CLOTRIMAZOLE

Top cohort targets by molecule count

SymbolMoleculesMax phase
ERBB2834

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CLOTRIMAZOLE4ERBB2
ERLOTINIB HYDROCHLORIDE4ERBB2
PONATINIB4ERBB2
AFATINIB4ERBB2
LAPATINIB DITOSYLATE4ERBB2
SORAFENIB4ERBB2
NERATINIB4ERBB2
IBRUTINIB4ERBB2
AFATINIB DIMALEATE4ERBB2
CABOZANTINIB4ERBB2
DACOMITINIB4ERBB2
DACOMITINIB ANHYDROUS4ERBB2
VANDETANIB4ERBB2
TRIBROMSALAN4ERBB2
BOSUTINIB4ERBB2
BITHIONOL4ERBB2
ASTEMIZOLE4ERBB2
EBASTINE4ERBB2
OSIMERTINIB4ERBB2
BRIGATINIB4ERBB2
ACALABRUTINIB4ERBB2
ZANUBRUTINIB4ERBB2
TUCATINIB4ERBB2
TIRABRUTINIB4ERBB2
PACLITAXEL4ERBB2
LAZERTINIB4ERBB2
HEXACHLOROPHENE4ERBB2
DOXORUBICIN4ERBB2
DASATINIB4ERBB2
ERLOTINIB4ERBB2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
ERBB21,221Binding:1136, Functional:79, ADMET:6

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
ERBB22.7.10.1receptor protein-tyrosine kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
ERBB21,221

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

28 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
CLOTRIMAZOLE4ERBB2
ERLOTINIB HYDROCHLORIDE4ERBB2
PONATINIB4ERBB2
AFATINIB4ERBB2
LAPATINIB DITOSYLATE4ERBB2
SORAFENIB4ERBB2
IBRUTINIB4ERBB2
AFATINIB DIMALEATE4ERBB2
CABOZANTINIB4ERBB2
DACOMITINIB4ERBB2
DACOMITINIB ANHYDROUS4ERBB2
VANDETANIB4ERBB2
TRIBROMSALAN4ERBB2
BOSUTINIB4ERBB2
BITHIONOL4ERBB2
ASTEMIZOLE4ERBB2
EBASTINE4ERBB2
OSIMERTINIB4ERBB2
ACALABRUTINIB4ERBB2
ZANUBRUTINIB4ERBB2
TUCATINIB4ERBB2
TIRABRUTINIB4ERBB2
PACLITAXEL4ERBB2
LAZERTINIB4ERBB2
HEXACHLOROPHENE4ERBB2
DOXORUBICIN4ERBB2
DASATINIB4ERBB2
ERLOTINIB4ERBB2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1ERBB2
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 121.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE148
PHASE239
Not specified21
PHASE1/PHASE26
EARLY_PHASE13
PHASE32
PHASE2/PHASE32

Top trials by phase / activity

NCTPhaseStatusTitle
NCT02265770PHASE2/PHASE3RECRUITINGAn International Clinical Program for the Diagnosis and Treatment of Children With Ependymoma
NCT00517959PHASE3UNKNOWNSCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT00749723PHASE2/PHASE3COMPLETEDTherapy Optimization Trial for the Treatment of Relapsed or Refractory Brain Tumors in Children
NCT01096368PHASE3COMPLETEDMaintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma
NCT00840047PHASE2ACTIVE_NOT_RECRUITINGMethionine PET/CT Studies In Patients With Cancer
NCT01356290PHASE2RECRUITINGAntiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT02125786PHASE2ACTIVE_NOT_RECRUITINGA Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma
NCT03155620PHASE2ACTIVE_NOT_RECRUITINGTargeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714PHASE2ACTIVE_NOT_RECRUITINGErdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652PHASE2ACTIVE_NOT_RECRUITINGEnsartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213704PHASE2ACTIVE_NOT_RECRUITINGLarotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03698994PHASE2ACTIVE_NOT_RECRUITINGUlixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT04049669PHASE2ACTIVE_NOT_RECRUITINGPediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG
NCT04195555PHASE2ACTIVE_NOT_RECRUITINGIvosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774PHASE2ACTIVE_NOT_RECRUITINGTipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888PHASE2ACTIVE_NOT_RECRUITINGSelpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04374305PHASE2RECRUITINGInnovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
NCT04743661PHASE2ACTIVE_NOT_RECRUITING131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma
NCT06161519PHASE1/PHASE2RECRUITINGPLX038 in Primary Central Nervous System Tumors Containing MYC or MYCN Amplifications
NCT06485908PHASE1/PHASE2NOT_YET_RECRUITINGAxitinib and Oral Metronomic Etoposide for Pediatric Children and AYA Refractory/Relapsing Medulloblastoma and Ependymoma
NCT06521567PHASE1/PHASE2ACTIVE_NOT_RECRUITINGA Study of Cobolimab Plus Dostarlimab in Pediatric and Young Adult Participants With Cancer
NCT06639607PHASE1/PHASE2NOT_YET_RECRUITINGPEP-CMV + Nivolumab for Newly Diagnosed Diffuse Midline Glioma/High-grade Glioma and Recurrent Diffuse Midline Glioma/High-grade Glioma, Medulloblastoma, and Ependymoma
NCT06804655PHASE2NOT_YET_RECRUITINGPharmacoscopy for Patients With Refractory Primary Brain Tumors
NCT07424092PHASE2RECRUITINGIntratumoral DNX-2401 for High Grade Pediatric Brain Tumors
NCT00003479PHASE2TERMINATEDAntineoplaston Therapy in Treating Patients With Ependymoma
NCT00004078PHASE2COMPLETEDIrinotecan in Treating Children With Refractory Solid Tumors
NCT00091182PHASE2COMPLETEDOxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment
NCT00095940PHASE1/PHASE2COMPLETEDLapatinib in Treating Young Patients With Recurrent or Refractory Central Nervous System Tumors
NCT00381797PHASE2COMPLETEDBevacizumab and Irinotecan in Treating Young Patients With Recurrent, Progressive, or Refractory Glioma, Medulloblastoma, Ependymoma, or Low Grade Glioma
NCT00520936PHASE2COMPLETEDA Study of Pemetrexed in Children With Recurrent Cancer
NCT01088035PHASE2TERMINATEDCarboplatin as a Radiosensitizer in Treating Childhood Ependymoma
NCT01247922PHASE2TERMINATEDSingle-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205
NCT01288235PHASE2COMPLETEDProton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01295944PHASE2COMPLETEDCarboplatin and Bevacizumab for Recurrent Ependymoma
NCT01462695PHASE2COMPLETEDSunitinib Malate in Treating Younger Patients With Recurrent, Refractory, or Progressive Malignant Glioma or Ependymoma
NCT01836549PHASE2TERMINATEDImetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors
NCT02155920PHASE2COMPLETEDEverolimus for Children With Recurrent or Progressive Ependymoma
NCT02684071PHASE2TERMINATEDPhase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors
NCT02689336PHASE2WITHDRAWNErlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT03095248PHASE2TERMINATEDTrial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
CARBOPLATIN44
LAROTRECTINIB44
LAPATINIB43
SELUMETINIB43
2-MERCAPTOETHANESULFONIC ACID42
ENSARTINIB42
ERDAFITINIB42
IVOSIDENIB42
SELPERCATINIB42
TAZEMETOSTAT42
VALPROIC ACID42
VEMURAFENIB42
BRIGATINIB41
DOSTARLIMAB41
ETOPOSIDE PHOSPHATE41
FENOFIBRIC ACID41
FLUDEOXYGLUCOSE F 1841
IMETELSTAT SODIUM41
LIOTHYRONINE41
LOMUSTINE41
NERATINIB41
RETIFANLIMAB41
ROMIDEPSIN41
SUNITINIB MALATE41
TEMOZOLOMIDE41
TERFENADINE41
THIOTEPA41
VALACYCLOVIR41
VINCRISTINE41
TIPIFARNIB32

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 2 predictive associations from 2 curated evidence items.

Molecular subtypeTherapyEffectLevelCIViC
SEC61G::EGFR FusionGefitinibSensitivity/ResponseCIViC AEID10933
ERBB2 AmplificationLapatinibSensitivity/ResponseCIViC BEID9778