Neuroepithelioma

General Information (adopted from Orphanet):

Synonyms, Signs: PNE, INCLUDED
ASKIN TUMOR, INCLUDED
ES NEUROEPITHELIOMA, PERIPHERAL, INCLUDED
Number of Symptoms 2
OrphanetNr: 2677
OMIM Id: 612219
ICD-10:
UMLs: C0027828
MeSH: D018241
MedDRA:
Snomed: 253096008
55045006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Embryonal tumor of the neuroepithelial tissue
 -Rare neurologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0012254) Ewing's sarcoma 2 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of ...
Clinical Description OMIM - Ewing Sarcoma

Ewing sarcoma is a highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It was first described by Ewing (1921) as a diffuse endothelioma ...

Genotype-Phenotype Correlations OMIM Ginsberg et al. (1999) investigated whether the 2 alternative gene fusion products, EWS/FLI1 and EWS/ERG (165080), defined different clinical subsets within the Ewing sarcoma family of tumors. They studied 30 cases of Ewing sarcoma with EWS/ERG gene fusion ...