KEGG   DISEASE: 横紋筋肉腫
エントリ  
H00037                                                             

名称    
横紋筋肉腫
  下位グループ
胞巣状横紋筋肉腫
  上位グループ
固形腫瘍 [DS:H02421]
軟部肉腫 [DS:H02427]
概要    
Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS comprises a heterogeneous into two major histologic subtypes, embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways.
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
   H00037  横紋筋肉腫
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
     2B55  横紋筋肉腫, 原発巣
      H00037  横紋筋肉腫
関連パスウェイ
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
ネットワーク
  エレメント
N00141  PAX3-FOXO1 fusion to transcriptional activation
病因遺伝子 
PAX3-FOXO1A (translocation) [HSA:2308] [KO:K07201]
PAX7-FOXO1A (translocation) [HSA:2308] [KO:K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
ATR (amplification) [HSA:545] [KO:K06640]
治療薬   
シクロホスファミド水和物 [DR:D00287]
イホスファミド [DR:D00343]
アクチノマイシンD [DR:D00214]
ドキソルビシン塩酸塩 [DR:D01275]
ビンクリスチン硫酸塩 [DR:D02197]
エトポシド [DR:D00125]
シスプラチン [DR:D00275]
コメント  
ICD-O: 8920/3, Tumor type: Alveolar rhabdomyosarcoma
リンク   
ICD-11: 2B55
ICD-10: C49
MeSH: D018232
文献    
  著者
Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M
  タイトル
Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell?
  雑誌
Cancer Lett 279:126-36 (2009)
DOI:10.1016/j.canlet.2008.09.039
文献    
  著者
Xia SJ, Pressey JG, Barr FG
  タイトル
Molecular pathogenesis of rhabdomyosarcoma.
  雑誌
Cancer Biol Ther 1:97-104 (2002)
DOI:10.4161/cbt.51
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:16365729 (marker)
  著者
Krskova L, Mrhalova M, Sumerauer D, Kodet R.
  タイトル
Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement.
  雑誌
Virchows Arch 448:449-58 (2006)
DOI:10.1007/s00428-005-0124-y
文献    
PMID:11007039 (marker)
  著者
Kumar S, Perlman E, Harris CA, Raffeld M, Tsokos M.
  タイトル
Myogenin is a specific marker for rhabdomyosarcoma: an immunohistochemical study in paraffin-embedded tissues.
  雑誌
Mod Pathol 13:988-93 (2000)
DOI:10.1038/modpathol.3880179
文献    
PMID:12039929 (marker)
  著者
Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG.
  タイトル
PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
  雑誌
J Clin Oncol 20:2672-9 (2002)
DOI:10.1200/JCO.2002.03.137
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