KEGG   DISEASE: Extraskeletal myxoid chondrosarcomaHelp
Entry
H00053                      Disease                                

Name
Extraskeletal myxoid chondrosarcoma
Description
Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of soft tissues and bone
   H00053  Extraskeletal myxoid chondrosarcoma
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
     2B50  Chondrosarcoma, primary site
      H00053  Extraskeletal myxoid chondrosarcoma
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
N00138  EWSR1-NR4A3
Gene
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
Comment
ICD-O: 9231/3, Tumor type: Extraskeletal myxoid chondrosarcoma
Other DBs
ICD-11: 2B50
ICD-10: C41
MeSH: D002813
Reference
  Authors
Kawaguchi S, Wada T, Nagoya S, Ikeda T, Isu K, Yamashiro K, Kawai A, Ishii T, Araki N, Myoui A, Matsumoto S, Umeda T, Yoshikawa H, Hasegawa T
  Title
Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan.
  Journal
Cancer 97:1285-92 (2003)
DOI:10.1002/cncr.11162
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:11679947 (marker)
  Authors
Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H.
  Title
Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases.
  Journal
Hum Pathol 32:1116-24 (2001)
DOI:10.1053/hupa.2001.28226
Reference
PMID:10955458 (marker)
  Authors
Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG.
  Title
Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases.
  Journal
Mod Pathol 13:900-8 (2000)
DOI:10.1038/modpathol.3880161

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