Peripheral primitive neuroectodermal tumor
Synonyms: PPNET · Peripheral PNET · Peripheral neuroepithelioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peripheral primitive neuroectodermal tumor | PPNET · Peripheral PNET · Peripheral neuroepithelioma |
| fr | Tumeur neuroectodermique primitive périphérique | Neuroblastome périphérique · Neuroépithéliome périphérique |
| de | Peripherer primitiver neuroektodermaler Tumor | PPNET · Peripheres Neuroepitheliom · pPNET |
| es | Tumor neuroectodérmico primitivo periférico | Neuroepitelioma periférico · PNET periférico · PPNET · TNEP periférico |
| it | Tumore neuroectodermico primitivo periferico | PNET periferico · PPNET |
| nl | Perifere primitieve neuro-ectodermale tumor | PPNET · Perifeer neuro-epithelioom · Perifere PNET |
| pt | Tumor neuroectodérmico primitivo periférico | |
| pl | Obwodowy prymitywny guz neuroektodermalny | Obwodowy PNET · PPNET |
| cs | Periferní primitivní neuroektodermální nádor | PPNET · Periferní PNET |
| uk | Периферична примітивна нейроектодермальна пухлина | Периферична нейроепітеліома · Периферійна мережа PNET · PPNET |
| zh | 外周原始神经外胚层肿瘤 | 周围神经上皮瘤 |
| tr | Periferik ilkel nöroektodermal tümör | PPNET · Periferal PNET · Periferik nöroepitelyom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612219 | NTBT | validated | |
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2B5F.2 | NTBT | attributed | validated |
| ICD-11 | XH6P76 | E | specific | validated |
| MONDO | 0018271 | E | validated | |
| MeSH | D018241 | E | validated | |
| UMLS | C0684337 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:223727Bone sarcoma
rare bone diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2677OBSOLETE: Neuroepithelioma referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLI1 | Part of a fusion gene in | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor | 7506981[PMID]_8644855[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
37 annotations · validated 2019-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030067 | Peripheral primitive neuroectodermal neoplasm | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001892 | Abnormal bleeding | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0100711 | Abnormality of the thoracic spine | |
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0001541 | Ascites | |
| HP:0003418 | Back pain | |
| HP:0030692 | Brain neoplasm | |
| HP:0031030 | Elevated carcinoma antigen 125 level | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0002315 | Headache | |
| HP:0001265 | Hyporeflexia | |
| HP:0000952 | Jaundice | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0100608 | Metrorrhagia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0001733 | Pancreatitis | |
| HP:0031501 | Pelvic mass | |
| HP:0000989 | Pruritus | |
| HP:0001250 | Seizure | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0010302 | Spinal cord tumor | |
| HP:0000473 | Torticollis | |
| HP:0012513 | Upper limb pain | |
| HP:0010784 | Uterine neoplasm | |
| HP:0002321 | Vertigo | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0011932 | Abnormality of the superior cerebellar peduncle | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0100849 | Neoplasm of the scrotum | |
| HP:0000826 | Precocious puberty | |
| HP:0000520 | Proptosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28296680[PMID]_27613377[PMID]_30774687[PMID]_30538569[PMID]_30496933[PMID]_3037428[PMID]_29611053[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370348
- This record as JSON: /data/d/370348.json