KEGG   DISEASE: 胞巣状軟部肉腫
エントリ  
H00051                                                             
名称    
胞巣状軟部肉腫
  上位グループ
固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]
概要    
Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TFE3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.
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
     2B5K  その他または部位不明の骨または関節軟骨の詳細不明の悪性軟部組織腫瘍または肉腫
      H00051  胞巣状軟部肉腫
病因遺伝子 
ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105]
リンク   
ICD-11: 2B5K
ICD-10: C49
MeSH: D018234
OMIM: 606243
文献    
  著者
Zarrin-Khameh N, Kaye KS
  タイトル
Alveolar soft part sarcoma.
  雑誌
Arch Pathol Lab Med 131:488-91 (2007)
DOI:10.1043/1543-2165(2007)131[488:ASPS]2.0.CO;2
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
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
Folpe AL, Deyrup AT.
  タイトル
Alveolar soft-part sarcoma: a review and update.
  雑誌
J Clin Pathol 59:1127-32 (2006)
DOI:10.1136/jcp.2005.031120
文献    
PMID:12766578 (TFE3)
  著者
Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M.
  タイトル
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.
  雑誌
Am J Surg Pathol 27:750-61 (2003)
DOI:10.1097/00000478-200306000-00005
文献    
PMID:30744536 (ASPSCR1-TFE3)
  著者
Ruffle A, Cameron M, Jonas N, Levine S, Mills C, Hook CE, Murray MJ
  タイトル
Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.
  雑誌
Pediatr Dev Pathol 22:391-395 (2019)
DOI:10.1177/1093526619830290
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