H00053 | |
H number | H00053 |
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 |
Network | - |
Gene | EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 2B50 ICD-10: C41 MeSH: D002813 |
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 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 PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 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 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 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 |