KEGG   DISEASE: ユーイング肉腫
エントリ  
H00035                                                             
名称    
ユーイング肉腫
  上位グループ
固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]
概要    
Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million total population, and it usually occurs between the ages of 10 and 20 years. Ewing's sarcoma is in 85% of cases associated with the translocation t(11;22)(q24;q12), which leads to the formation of the EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;22)(q22;q12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene containing a portion of the EWSR1 gene and a member of the ETS family of transcription factors.
カテゴリ  
がん
階層分類  
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
     2B52  ユーイング肉腫, 原発巣
      H00035  ユーイング肉腫
病因遺伝子 
EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]
EWSR1 [HSA:2130] [KO:K13209]
治療薬   
イホスファミド [DR:D00343]
ブスルファン [DR:D00248]
テモゾロミド [DR:D06067]
アクチノマイシンD [DR:D00214]
ドキソルビシン塩酸塩 [DR:D01275]
エトポシド [DR:D00125]
カルボプラチン [DR:D01363]
リンク   
ICD-11: 2B52
ICD-10: C41
MeSH: D012512
OMIM: 612219
文献    
  著者
Burchill SA.
  タイトル
Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities.
  雑誌
J Clin Pathol 56:96-102 (2003)
DOI:10.1136/jcp.56.2.96
文献    
  著者
Arvand A, Denny CT.
  タイトル
Biology of EWS/ETS fusions in Ewing's family tumors.
  雑誌
Oncogene 20:5747-54 (2001)
DOI:10.1038/sj.onc.1204598
文献    
  著者
Riggi N, Stamenkovic I.
  タイトル
The Biology of Ewing sarcoma.
  雑誌
Cancer Lett 254:1-10 (2007)
DOI:10.1016/j.canlet.2006.12.009
文献    
  著者
Khoury JD.
  タイトル
Ewing sarcoma family of tumors.
  雑誌
Adv Anat Pathol 12:212-20 (2005)
DOI:10.1097/01.pap.0000175114.55541.52
文献    
  著者
Riley RD, Burchill SA, Abrams KR, Heney D, Lambert PC, Jones DR, Sutton AJ, Young B, Wailoo AJ, Lewis IJ.
  タイトル
A systematic review and evaluation of the use of tumour markers in paediatric oncology: Ewing's sarcoma and neuroblastoma.
  雑誌
Health Technol Assess 7:1-162 (2003)
DOI:10.3310/hta7050
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