KEGG   DISEASE: 粘液様軟骨肉腫
エントリ  
H00053                                                             

名称    
粘液様軟骨肉腫
  上位グループ
固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]
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
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  軟部組織および骨のがん
   H00053  粘液様軟骨肉腫
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    悪性間葉系腫瘍
     2B50  軟骨肉腫, 原発巣
      H00053  粘液様軟骨肉腫
関連パスウェイ
hsa05202  Transcriptional misregulation in cancer
ネットワーク
  エレメント
N00138  EWSR1-NR4A3
病因遺伝子 
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
コメント  
ICD-O: 9231/3, Tumor type: Extraskeletal myxoid chondrosarcoma
リンク   
ICD-11: 2B50
ICD-10: C41
MeSH: D002813
文献    
  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
文献    
PMID:11378650 (gene, tumor type)
  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
文献    
  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
文献    
  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
文献    
PMID:11679947 (marker)
  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
文献    
PMID:10955458 (marker)
  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
LinkDB    

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