Peripheral primitive neuroectodermal tumor
diseaseOn this page
Also known as peripheral neuroectodermal neoplasmperipheral neuroectodermal tumorperipheral neuroectodermal tumourperipheral neuroepitheliomaperipheral PNETperipheral primitive neuroectodermal neoplasmPPNET
Summary
Peripheral primitive neuroectodermal tumor (MONDO:0018271) is a cancer and 23 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous, ivosidenib, and larotrectinib. A subtype of primitive neuroectodermal tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 37
- Clinical trials: 23
Clinical features
Signs & symptoms
Clinical features (HPO)
37 HPO clinical features (Orphanet curated; top 37 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030067 | Peripheral primitive neuroectodermal neoplasm | Obligate (100%) |
| HP:0000473 | Torticollis | Occasional (5-29%) |
| HP:0000952 | Jaundice | Occasional (5-29%) |
| HP:0000989 | Pruritus | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001265 | Hyporeflexia | Occasional (5-29%) |
| HP:0001541 | Ascites | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0001824 | Weight loss | Occasional (5-29%) |
| HP:0001892 | Abnormal bleeding | Occasional (5-29%) |
| HP:0001903 | Anemia | Occasional (5-29%) |
| HP:0001965 | Abnormality of the scalp | Occasional (5-29%) |
| HP:0002017 | Nausea and vomiting | Occasional (5-29%) |
| HP:0002039 | Anorexia | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002574 | Episodic abdominal pain | Occasional (5-29%) |
| HP:0002894 | Neoplasm of the pancreas | Occasional (5-29%) |
| HP:0003270 | Abdominal distention | Occasional (5-29%) |
| HP:0003418 | Back pain | Occasional (5-29%) |
| HP:0003474 | Somatic sensory dysfunction | Occasional (5-29%) |
| HP:0007340 | Lower limb muscle weakness | Occasional (5-29%) |
| HP:0010302 | Spinal cord tumor | Occasional (5-29%) |
| HP:0010784 | Uterine neoplasm | Occasional (5-29%) |
| HP:0012513 | Upper limb pain | Occasional (5-29%) |
| HP:0030692 | Brain neoplasm | Occasional (5-29%) |
| HP:0031030 | Elevated carcinoma antigen 125 level | Occasional (5-29%) |
| HP:0031501 | Pelvic mass | Occasional (5-29%) |
| HP:0100608 | Metrorrhagia | Occasional (5-29%) |
| HP:0100615 | Ovarian neoplasm | Occasional (5-29%) |
| HP:0100711 | Abnormality of the thoracic spine | Occasional (5-29%) |
| HP:0000520 | Proptosis | Very rare (<1-4%) |
| HP:0000826 | Precocious puberty | Very rare (<1-4%) |
| HP:0006254 | Elevated alpha-fetoprotein | Very rare (<1-4%) |
| HP:0011932 | Abnormality of the superior cerebellar peduncle | Very rare (<1-4%) |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | Very rare (<1-4%) |
| HP:0100849 | Neoplasm of the scrotum | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | peripheral primitive neuroectodermal tumor |
| Mondo ID | MONDO:0018271 |
| Orphanet | 370348 |
| NCIT | C9341 |
| UMLS | C0684337 |
| MedGen | 151926 |
| GARD | 0017601 |
| Is cancer (heuristic) | yes |
Also known as: peripheral neuroectodermal neoplasm · peripheral neuroectodermal tumor · peripheral neuroectodermal tumour · peripheral neuroepithelioma · peripheral PNET · peripheral primitive neuroectodermal neoplasm · peripheral primitive neuroectodermal tumor · PPNET · pPNET
Data availability: 24 cell lines.
Disease family
This is a subtype of primitive neuroectodermal tumor. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › embryonal neoplasm › primitive neuroectodermal tumor › peripheral primitive neuroectodermal tumor
Related subtypes (4): central nervous system primitive neuroectodermal neoplasm, melanotic neuroectodermal tumor, neuroblastic tumor, primitive neuroectodermal tumor of the corpus uteri
Subtypes (3): peripheral primitive neuroectodermal tumor of bone, peripheral primitive neuroectodermal tumor of soft tissues, Askin tumor
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: 23.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 14 |
| Not specified | 5 |
| PHASE1 | 2 |
| PHASE1/PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01946529 | PHASE2 | ACTIVE_NOT_RECRUITING | Therapeutic Trial for Patients With Ewing Sarcoma Family of Tumor and Desmoplastic Small Round Cell Tumors |
| NCT03155620 | PHASE2 | ACTIVE_NOT_RECRUITING | Targeted 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) |
| NCT03698994 | PHASE2 | ACTIVE_NOT_RECRUITING | Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) |
| NCT04195555 | PHASE2 | ACTIVE_NOT_RECRUITING | Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT04284774 | PHASE2 | ACTIVE_NOT_RECRUITING | Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04320888 | PHASE2 | ACTIVE_NOT_RECRUITING | Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04901702 | PHASE1/PHASE2 | RECRUITING | Study of Onivyde With Talazoparib or Temozolomide in Children With Recurrent Solid Tumors and Ewing Sarcoma |
| NCT00070109 | PHASE2 | COMPLETED | Trabectedin in Treating Young Patients With Recurrent or Refractory Soft Tissue Sarcoma or Ewing’s Family of Tumors |
| NCT00516295 | PHASE2 | COMPLETED | Vincristine Sulfate, Topotecan Hydrochloride, and Cyclophosphamide With or Without Bevacizumab in Treating Young Patients With Refractory or First Recurrent Extracranial Ewing Sarcoma |
| NCT00617890 | PHASE2 | TERMINATED | A Study to Determine the Activity of Robatumumab (SCH 717454) in Participants With Relapsed Osteosarcoma or Ewing’s Sarcoma (MK-7454-002/P04720) |
| NCT01217437 | PHASE2 | COMPLETED | Temozolomide and Irinotecan Hydrochloride With or Without Bevacizumab in Treating Young Patients With Recurrent or Refractory Medulloblastoma or CNS Primitive Neuroectodermal Tumors |
| NCT03213665 | PHASE2 | COMPLETED | Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213678 | PHASE2 | COMPLETED | Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03220035 | PHASE2 | COMPLETED | Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03526250 | PHASE2 | COMPLETED | Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) |
| NCT06441331 | PHASE1 | RECRUITING | Phase I Trial to Determine the Dose and Evaluate the PK and Safety of Lutetium Lu 177 Edotreotide Therapy in Pediatric Participants With SSTR-positive Tumors |
| NCT00019578 | PHASE1 | COMPLETED | Stereotactic Radiosurgery in Treating Patients With Brain Tumors |
| NCT01825902 | EARLY_PHASE1 | COMPLETED | 18F-FLT Positron Emission Tomography and Diffusion-Weighted Magnetic Resonance Imaging in Planning Surgery and Radiation Therapy and Measuring Response in Patients With Newly Diagnosed Ewing Sarcoma |
| NCT06068075 | Not specified | ACTIVE_NOT_RECRUITING | Liquid Biopsy in Ewing Sarcoma and Osteosarcoma as a Prognostic And Response Diagnostic: LEOPARD |
| NCT00048984 | Not specified | COMPLETED | Diagnostic Study of Tumor Characteristics in Patients With Ewing’s Sarcoma |
| NCT00618813 | Not specified | COMPLETED | Two Regimens of Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed Localized Ewing Sarcoma Family of Tumors |
| NCT00898053 | Not specified | COMPLETED | Study of Tumor Samples From Patients With Ewing Sarcoma |
| NCT00899990 | Not specified | COMPLETED | Collecting and Storing Biological Samples From Patients With Ewing Sarcoma |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPHOSPHAMIDE ANHYDROUS | 4 | 2 |
| IVOSIDENIB | 4 | 2 |
| LAROTRECTINIB | 4 | 2 |
| SELPERCATINIB | 4 | 2 |
| SELUMETINIB | 4 | 2 |
| TAZEMETOSTAT | 4 | 2 |
| VEMURAFENIB | 4 | 2 |
| ENSARTINIB | 4 | 1 |
| ERDAFITINIB | 4 | 1 |
| TOPOTECAN HYDROCHLORIDE | 4 | 1 |
| TRABECTEDIN | 4 | 1 |
| TIPIFARNIB | 3 | 2 |
| SAMOTOLISIB | 2 | 2 |
| ULIXERTINIB | 2 | 2 |
| ROBATUMUMAB | 2 | 1 |
| CHEMBL3415553 | 0 | 2 |
| CHEMBL4209555 | 0 | 2 |
| CHEMBL5398431 | 0 | 2 |
| CHEMBL5430810 | 0 | 2 |
| PLX-4720 | 0 | 2 |
| CHEMBL365847 | 0 | 1 |
| CHEMBL3764816 | 0 | 1 |
| CHEMBL5724798 | 0 | 1 |