KEGG   DISEASE: Clear cell sarcoma of soft tissueHelp
Entry
H00052                      Disease                                

Name
Clear cell sarcoma of soft tissue
Description
Soft tissue sarcomas account for only about 1% of all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the translocation t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic for CCS and can be used as a diagnostic marker of this neoplasia.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of soft tissues and bone
   H00052  Clear cell sarcoma of soft tissue
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
      H00052  Clear cell sarcoma of soft tissue
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
N00136  EWSR1-ATF1 fusion to transcriptional activation
Gene
EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
Comment
ICD-O: 9044/3, Tumor type: Clear cell sarcoma of soft tissue
Other DBs
ICD-11: 2B5K
ICD-10: C49
MeSH: D018227
Reference
  Authors
Malchau SS, Hayden J, Hornicek F, Mankin HJ
  Title
Clear cell sarcoma of soft tissues.
  Journal
J Surg Oncol 95:519-22 (2007)
DOI:10.1002/jso.20730
Reference
PMID:12935923 (description, gene, marker)
  Authors
Teixeira MR, Ribeiro FR, Cerveira N, Torres L, Amaro T, Henrique R, Lopes C
  Title
Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1.
  Journal
Cancer Genet Cytogenet 145:121-5 (2003)
DOI:10.1016/S0165-4608(03)00063-3
Reference
PMID:11378650 (gene, tumor type)
  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
  Authors
Helman LJ, Meltzer P.
  Title
Mechanisms of sarcoma development.
  Journal
Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168
Reference
  Authors
Fisher C.
  Title
Current aspects of the pathology of soft tissue sarcomas.
  Journal
Semin Radiat Oncol 9:315-27 (1999)
DOI:10.1053/SRAO00900315
Reference
PMID:15677980 (marker)
  Authors
Kim YC, Vandersteen DP, Jung HG.
  Title
Myxoid clear cell sarcoma.
  Journal
Am J Dermatopathol 27:51-5 (2005)
DOI:10.1097/01.dad.0000141547.31306.4e
Reference
PMID:11892024 (marker)
  Authors
Tong TR, Chow TC, Chan OW, Lee KC, Yeung SH, Lam A, Yu CK.
  Title
Clear-cell sarcoma diagnosis by fine-needle aspiration: cytologic, histologic, and ultrastructural features; potential pitfalls; and literature review.
  Journal
Diagn Cytopathol 26:174-80 (2002)
DOI:10.1002/dc.10081
Reference
PMID:11863218 (marker)
  Authors
Creager AJ, Pitman MB, Geisinger KR.
  Title
Cytologic features of clear cell sarcoma (malignant melanoma) of soft parts: a study of fine-needle aspirates and exfoliative specimens.
  Journal
Am J Clin Pathol 117:217-24 (2002)
DOI:10.1309/D17Q-2MWA-HVNX-H7RD

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