Alveolar soft-part sarcoma

General Information (adopted from Orphanet):

Synonyms, Signs: ASPS
Number of Symptoms 2
OrphanetNr: 163699
OMIM Id: 606243
ICD-10:
UMLs: C0206657
MeSH: D018234
MedDRA: 10001882
Snomed: 404056007
88195001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Soft tissue sarcoma
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0012218) Alveolar soft part sarcoma 1 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant ...
Clinical Description OMIM Most cases of ASPS occur in the second and third decade of life, with a slight female predilection (Ordonez, 1999). ASPS usually involves the muscle and deep soft tissues of the extremities, but has also been reported in ...
Molecular genetics OMIM Ladanyi et al. (2001) detected an ASPSCR1/TFE3 fusion transcript in all 12 ASPS cases studied. The ASPSCR1/TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPSCR1 sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation ...