Ganglioneuroblastoma
diseaseOn this page
Also known as ganglioneuroblastoma (disease)ganglioneuroblastoma (morphologic abnormality)ganglioneuroblastoma, malignant
Summary
Ganglioneuroblastoma (MONDO:0005035) is a disease and 17 clinical trials. Molecularly, KANK1::NTRK2 Fusion confers sensitivity to Entrectinib in Ganglioneuroblastoma (CIViC Level C). Top therapeutic interventions include cyclophosphamide anhydrous, dexrazoxane, and dinutuximab. A subtype of neuroblastic tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Clinical trials: 17
- Precision-medicine evidence (CIViC): 1 subtype–drug association
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 425 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ganglioneuroblastoma |
| Mondo ID | MONDO:0005035 |
| EFO | EFO:0000502 |
| MeSH | D018305 |
| Orphanet | 251877 |
| DOID | DOID:4163 |
| NCIT | C3790 |
| SNOMED CT | 116381000119105 |
| UMLS | C0206718 |
| MedGen | 60218 |
| GARD | 0020719 |
| MedDRA | 10017708 |
| Is cancer (heuristic) | no |
Also known as: ganglioneuroblastoma · ganglioneuroblastoma (disease) · ganglioneuroblastoma (morphologic abnormality) · ganglioneuroblastoma, malignant
Data availability: 1 HPO phenotype · 2 cell lines.
Disease family
An umbrella term covering 3 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › embryonal neoplasm › primitive neuroectodermal tumor › neuroblastic tumor › ganglioneuroblastoma
Related subtypes (2): ganglioneuroma, neuroblastoma
Subtypes (3): nodular ganglioneuroblastoma, intermixed schwannian stroma-rich ganglioneuroblastoma, peripheral ganglioneuroblastoma
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
Drugs indicated for this disease
0 approved, 16 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Busulfan | Phase 3 (in late-stage trials) |
| Carboplatin | Phase 3 (in late-stage trials) |
| Cisplatin | Phase 3 (in late-stage trials) |
| Dinutuximab | Phase 3 (in late-stage trials) |
| Doxorubicin | Phase 3 (in late-stage trials) |
| Etoposide | Phase 3 (in late-stage trials) |
| Etoposide Phosphate | Phase 3 (in late-stage trials) |
| Irinotecan | Phase 3 (in late-stage trials) |
| Isotretinoin | Phase 3 (in late-stage trials) |
| Lorlatinib | Phase 3 (in late-stage trials) |
| Melphalan | Phase 3 (in late-stage trials) |
| Sargramostim | Phase 3 (in late-stage trials) |
| Temozolomide | Phase 3 (in late-stage trials) |
| Thiotepa | Phase 3 (in late-stage trials) |
| Topotecan | Phase 3 (in late-stage trials) |
| Vincristine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Dexrazoxane, Temsirolimus.
Clinical trials & evidence
Clinical trials
Clinical trials: 17.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE3 | 4 |
| Not specified | 4 |
| PHASE2 | 3 |
| PHASE1 | 3 |
| PHASE1/PHASE2 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02176967 | PHASE3 | ACTIVE_NOT_RECRUITING | Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma |
| NCT03126916 | PHASE3 | RECRUITING | Testing the Addition of 131I-MIBG or Lorlatinib to Intensive Therapy in People With High-Risk Neuroblastoma (NBL) |
| NCT06071897 | PHASE3 | RECRUITING | Induction Chemoimmunotherapy for Patients With High-risk Neuroblastoma |
| NCT07375563 | PHASE3 | RECRUITING | Chemoimmunotherapy Combined With Autologous NK Cell Therapy for Pediatric Patients With Refractory and Relapsed High-Risk Neuroblastoma and Ganglioneuroblastoma |
| NCT03786783 | PHASE2 | ACTIVE_NOT_RECRUITING | Dinutuximab, Sargramostim, and Combination Chemotherapy in Treating Patients With Newly Diagnosed High-Risk Neuroblastoma |
| NCT06858501 | PHASE2 | NOT_YET_RECRUITING | Comparing 123I-MIBG and 18F-MFBG Imaging in Patients With Newly Diagnosed, High Risk Neuroblastoma |
| NCT07437963 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Testing the Addition of Iberdomide to Therapy in People With Neuroblastoma That Has Come Back, Not Responded to Treatment, or Gotten Worse |
| NCT07502287 | PHASE1/PHASE2 | RECRUITING | Dual-Target GD2/B7-H3 CAR-NK Cells for Pediatric Relapsed or Refractory Neuroblastoma |
| NCT01767194 | PHASE2 | COMPLETED | Irinotecan Hydrochloride and Temozolomide With Temsirolimus or Dinutuximab in Treating Younger Patients With Refractory or Relapsed Neuroblastoma |
| NCT02311621 | PHASE1 | ACTIVE_NOT_RECRUITING | Engineered Neuroblastoma Cellular Immunotherapy (ENCIT)-01 |
| NCT01175356 | PHASE1 | COMPLETED | Induction Therapy Including 131 I-MIBG and Chemotherapy in Treating Patients With Newly Diagnosed High-Risk Neuroblastoma Undergoing Stem Cell Transplant, Radiation Therapy, and Maintenance Therapy With Isotretinoin |
| NCT01798004 | PHASE1 | COMPLETED | Busulfan, Melphalan, and Stem Cell Transplant After Chemotherapy in Treating Patients With Newly Diagnosed High-Risk Neuroblastoma |
| NCT04040088 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | An Investigational Scan (68Ga-DOTATATE PET/CT) in Diagnosing Pediatric Metastatic Neuroendocrine Tumors |
| NCT00904241 | Not specified | ACTIVE_NOT_RECRUITING | Biomarkers in Tumor Tissue Samples From Patients With Newly Diagnosed Neuroblastoma or Ganglioneuroblastoma |
| NCT02112617 | Not specified | RECRUITING | Phase II Study of Proton Radiation Therapy for Neuroblastoma |
| NCT05192980 | Not specified | RECRUITING | SIOPEN BIOPORTAL, An International Registry Linked to a Virtual Biobank for Patients With Peripheral Neuroblastic Tumours |
| NCT06296732 | Not specified | RECRUITING | Abdominal Neuroblastoma Laparoscopic Surgery Risk Factors Stratification |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPHOSPHAMIDE ANHYDROUS | 4 | 7 |
| DEXRAZOXANE | 4 | 6 |
| DINUTUXIMAB | 4 | 4 |
| ISOTRETINOIN | 4 | 3 |
| ETOPOSIDE PHOSPHATE | 4 | 2 |
| IOBENGUANE I 131 | 4 | 2 |
| BUSULFAN | 4 | 1 |
| DINUTUXIMAB BETA | 4 | 1 |
| LORLATINIB | 4 | 1 |
| MELPHALAN | 4 | 1 |
| SARGRAMOSTIM | 4 | 1 |
| TEMOZOLOMIDE | 4 | 1 |
| THIOTEPA | 4 | 1 |
| TOPOTECAN | 4 | 1 |
| FLORBENGUANE F18 | 3 | 1 |
| IBERDOMIDE | 3 | 1 |
| IOBENGUANE I 123 | 1 | 1 |
| CHEMBL4303155 | 0 | 1 |
| CHEMBL4436406 | 0 | 1 |
| CHEMBL5289235 | 0 | 1 |
| CHEMBL4228794 | 0 | 1 |
| CHEMBL4248195 | 0 | 1 |
Precision-medicine subtype map (CIViC)
Drug × molecular subtype: 1 predictive associations from 1 curated evidence items.
| Molecular subtype | Therapy | Effect | Level | CIViC |
|---|---|---|---|---|
| KANK1::NTRK2 Fusion | Entrectinib | Sensitivity/Response | CIViC C | EID11854 |