KEGG   DISEASE: Extraskeletal myxoid chondrosarcoma
Entry
H00053                      Disease                                
Name
Extraskeletal myxoid chondrosarcoma
  Supergrp
Solid tumor [DS:H02421]
Soft tissue sarcomas [DS:H02427]
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 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
     2B50  Chondrosarcoma, primary site
      H00053  Extraskeletal myxoid chondrosarcoma
Gene
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8148] [KO:K14651]
Other DBs
ICD-11: 2B50
MeSH: D002813
OMIM: 612237
Reference
PMID:12599237
  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
  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:11679947
  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
  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
Reference
PMID:10602519 (TAF15-NR4A3)
  Authors
Panagopoulos I, Mencinger M, Dietrich CU, Bjerkehagen B, Saeter G, Mertens F, Mandahl N, Heim S
  Title
Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).
  Journal
Oncogene 18:7594-8 (1999)
DOI:10.1038/sj.onc.1203155

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   OMIM (1)   
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