| H00053 | |
| H番号 | H00053 |
| 名称 | 粘液様軟骨肉腫 |
| 概要 | 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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2B50 ICD-10: C41 MeSH: D002813 |
| 文献 | PMID:12599237 著者 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 タイトル Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan. 雑誌 Cancer 97:1285-92 (2003) DOI:10.1002/cncr.11162 PMID:11378650 著者 Letson GD, Muro-Cacho CA. タイトル Genetic and molecular abnormalities in tumors of the bone and soft tissues. 雑誌 Cancer Control 8:239-51 (2001) DOI:10.1177/107327480100800304 PMID:12951587 著者 Helman LJ, Meltzer P. タイトル Mechanisms of sarcoma development. 雑誌 Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 PMID:10516379 著者 Fisher C. タイトル Current aspects of the pathology of soft tissue sarcomas. 雑誌 Semin Radiat Oncol 9:315-27 (1999) DOI:10.1053/SRAO00900315 PMID:11679947 著者 Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H. タイトル Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases. 雑誌 Hum Pathol 32:1116-24 (2001) DOI:10.1053/hupa.2001.28226 PMID:10955458 著者 Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG. タイトル Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases. 雑誌 Mod Pathol 13:900-8 (2000) DOI:10.1038/modpathol.3880161 |