KEGG   DISEASE: 粘液様脂肪肉腫
エントリ  
H00049                                                             
名称    
粘液様脂肪肉腫
  上位グループ
固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]
概要    
Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts for approximately 40% to 54% of all liposarcomas. The karyotypic hallmark of myxoid LS is the t(12;16)(q13;p11), present cytogenetically in >90% of the cases. The translocation leads to the fusion of the DDIT3(CHOP) and FUS(TLS) genes at 12q13 and 16p11, respectively, and the generation of a FUS-DDIT3 hybrid protein. In 4 cases of myxoid LS, a variant chromosomal translocation has been described, t(12;22), in which DDIT3 fuses instead with EWSR1(EWS), a gene highly related to TLS.
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
     2B59  脂肪肉腫, 原発巣
      H00049  粘液様脂肪肉腫
病因遺伝子 
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]
リンク   
ICD-11: 2B59
ICD-10: C49
MeSH: D018208
文献    
  著者
Antonescu CR, Elahi A, Humphrey M, Lui MY, Healey JH, Brennan MF, Woodruff JM, Jhanwar SC, Ladanyi M
  タイトル
Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.
  雑誌
J Mol Diagn 2:132-8 (2000)
DOI:10.1016/S1525-1578(10)60628-9
文献    
  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
Tateishi U, Hasegawa T, Beppu Y, Kawai A, Moriyama N.
  タイトル
Prognostic significance of grading (MIB-1 system) in patients with myxoid liposarcoma.
  雑誌
J Clin Pathol 56:579-82 (2003)
DOI:10.1136/jcp.56.8.579
文献    
PMID:7817937
  著者
Gibas Z, Miettinen M, Limon J, Nedoszytko B, Mrozek K, Roszkiewicz A, Rys J, Niezabitowski A, Debiec-Rychter M.
  タイトル
Cytogenetic and immunohistochemical profile of myxoid liposarcoma.
  雑誌
Am J Clin Pathol 103:20-6 (1995)
DOI:10.1093/ajcp/103.1.20
文献    
PMID:7805034
  著者
Knight JC, Renwick PJ, Cin PD, Van den Berghe H, Fletcher CD.
  タイトル
Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis.
  雑誌
Cancer Res 55:24-7 (1995)
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