ORPHA:370334
Extraskeletal Ewing sarcoma
Synonyms: EOE · Extraosseous Ewing sarcoma · Extraosseous Ewing tumor · Extraskeletal Ewing tumor
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extraskeletal Ewing sarcoma | EOE · Extraosseous Ewing sarcoma · Extraosseous Ewing tumor · Extraskeletal Ewing tumor |
| fr | Sarcome d'Ewing extrasquelettique | EOE · Sarcome d'Ewing extraosseux |
| de | Extraskelettales Ewing-Sarkom | EOE · Extraossäres Ewing-Sarkom · Extraskelettaler Ewing-Tumor |
| es | Sarcoma de Ewing extraesquelético | Sarcoma de Ewing extraóseo · Tumor de Ewing extraesquelético · Tumor de Ewing extraóseo |
| it | Sarcoma extra-scheletrico di Ewing | EOE · Sarcoma extra-osseo di Ewing · Tumore extra-osseo di Ewing · Tumore extra-scheletrico di Ewing |
| nl | Extraskeletaal Ewing-sarcoom | EOE · Extraossaal Ewing-sarcoom · Extraossale Ewing-tumor · Extraskeletale Ewing-tumor |
| pt | Sarcoma de Ewing extra-esquelético | |
| pl | Pozaszkieletowy mięsak Ewinga | EOE · Pozakostny guz Ewinga · Pozakostny mięsak Ewinga · Pozaszkieletowy guz Ewinga |
| cs | Extraoseální Ewingův sarkom | EOE · Extraoseální Ewingův nádor |
| uk | Позаскелетна саркома Юінга | EOE · Позакісткова саркома Юінга · Позакісткова пухлина Юінга · Екстраскелетна пухлина Юінга |
| zh | 骨外尤因肉瘤 | 骨外尤因肉瘤 |
| tr | Ekstraskeletal Ewing sarkomu | EOE · Ekstraosseöz Ewing tümörü · Ekstraskeletal Ewing tümörü · Ekstraosseöz Ewing sarkomu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612219 | NTBT | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B52.Y | NTBT | index | validated |
| MONDO | 0018270 | E | validated | |
| UMLS | C0279980 | E | validated | |
| MedDRA | 10015759 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERG | Part of a fusion gene in | Assessed | HGNC:3446 | ENSG00000157554 | 165080 | 21q22.2 | ETS transcription factor ERG | 11823984[PMID] |
| EWSR1 | Part of a fusion gene in | Assessed | HGNC:3508 | ENSG00000182944 | 133450 | 22q12.2 | EWS RNA binding protein 1 | 21113140[PMID] |
| FLI1 | Part of a fusion gene in | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor | 9072004[PMID]_18769338[PMID]_16517542[PMID]_11570916[PMID] |
| SMARCA5 | Part of a fusion gene in | Assessed | HGNC:11101 | ENSG00000153147 | 603375 | 4q31.21 | SNF2 related chromatin remodeling ATPase 5 | 21113140[PMID] |
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Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.077 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.056 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.023 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.052 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.083 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.071 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.055 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.068 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.043 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.076 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.092 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.081 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.087 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.056 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.089 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.058 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.112 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.126 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.106 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370334
- This record as JSON: /data/d/370334.json