| H00051 | |
| H number | H00051 |
| Name | Alveolar soft part sarcoma |
| Description | Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TFE3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor. |
| Category | Cancer |
| Network | - |
| Gene | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 2B5K ICD-10: C49 MeSH: D018234 OMIM: 606243 |
| Reference | PMID:17516754 AUTHORS Zarrin-Khameh N, Kaye KS TITLE Alveolar soft part sarcoma. JOURNAL Arch Pathol Lab Med 131:488-91 (2007) DOI:10.1043/1543-2165(2007)131[488:ASPS]2.0.CO;2 PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 PMID:11378650 AUTHORS Letson GD, Muro-Cacho CA. TITLE Genetic and molecular abnormalities in tumors of the bone and soft tissues. JOURNAL Cancer Control 8:239-51 (2001) DOI:10.1177/107327480100800304 PMID:17071801 AUTHORS Folpe AL, Deyrup AT. TITLE Alveolar soft-part sarcoma: a review and update. JOURNAL J Clin Pathol 59:1127-32 (2006) DOI:10.1136/jcp.2005.031120 PMID:12766578 (TFE3) AUTHORS Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M. TITLE Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. JOURNAL Am J Surg Pathol 27:750-61 (2003) DOI:10.1097/00000478-200306000-00005 PMID:30744536 (ASPSCR1-TFE3) AUTHORS Ruffle A, Cameron M, Jonas N, Levine S, Mills C, Hook CE, Murray MJ TITLE Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion. JOURNAL Pediatr Dev Pathol 22:391-395 (2019) DOI:10.1177/1093526619830290 |