KEGG   DISEASE: Alveolar soft part sarcomaHelp
Entry
H00051                      Disease                                

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 TEF3 (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
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of soft tissues and bone
   H00051  Alveolar soft part sarcoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B5K  Unspecified malignant soft tissue tumours or sarcomas of bone or articular cartilage of other or unspecified sites
      H00051  Alveolar soft part sarcoma
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
  Element
N00143  ASPL-TFE3 fusion to transcriptional activation
Gene
ASPL-TFE3 (translocation) [HSA:7030] [KO:K09105]
Comment
ICD-O: 9581/3, Tumor type: Alveolar soft part sarcoma
Other DBs
ICD-11: 2B5K
ICD-10: C49
MeSH: D018234
Reference
  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
Reference
PMID:12951587 (gene, tumor type)
  Authors
Helman LJ, Meltzer P.
  Title
Mechanisms of sarcoma development.
  Journal
Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168
Reference
  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
Reference
PMID:17071801 (gene, marker)
  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
Reference
PMID:12766578 (marker)
  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)
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