Extraskeletal myxoid chondrosarcoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EMC |
| Number of Symptoms | 2 |
| OrphanetNr: | 209916 |
| OMIM Id: |
612237
|
| ICD-10: |
|
| UMLs: |
C1275278 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
404079008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.2 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Soft tissue sarcoma
-Rare oncologic disease |
Symptom Information:
|
|
(HPO:0006765) | Chondrosarcoma | 5 / 7739 | ||||
|
|
(HPO:0001428) | Somatic mutation | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. ... |
| Clinical Description OMIM |
Hisaoka et al. (2004) reported a 41-year-old Japanese man who had a local excision for EMC in his right sole at age 36 years, and amputation of the right foot because of local recurrence 2 years later. He ... |