Entry

H00052                      Disease

Name

Clear cell sarcoma of soft tissue

Supergrp

Solid tumor [DS:H02421]
Soft tissue sarcomas [DS:H02427]

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 primary neoplasms 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

Gene

EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]

Other DBs

ICD-11:

2B5K

ICD-10:

C49

MeSH:

D018227

Reference

PMID:17192915

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

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

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:12951587

Authors

Helman LJ, Meltzer P.

Title

Mechanisms of sarcoma development.

Journal

Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168

Reference

PMID:10516379

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

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

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

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

DISEASE: Clear cell sarcoma of soft tissue