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
胎児型横紋筋肉腫
  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 is divided into two major 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  
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
病因遺伝子 
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
SLC22A18 [HSA:5002] [KO:K08214]
DICER1 [HSA:23405] [KO:K11592]
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]
リンク   
ICD-11: 2B55
ICD-10: C49
MeSH: D018232
OMIM: 268210 180295
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    
  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 (PAX3-FOXO1 PAX7-FOXO1)
  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:23766666 (MDM2)
  著者
Kikuchi K, Wettach GR, Ryan CW, Hung A, Hooper JE, Beadling C, Warrick A, Corless CL, Olson SB, Keller C, Mansoor A
  タイトル
MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma.
  雑誌
Sarcoma 2013:520858 (2013)
DOI:10.1155/2013/520858
文献    
PMID:15239143 (SLC22A18)
  著者
Albrecht S, Hartmann W, Houshdaran F, Koch A, Gartner B, Prawitt D, Zabel BU, Russo P, Von Schweinitz D, Pietsch T
  タイトル
Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma.
  雑誌
Int J Cancer 111:627-32 (2004)
DOI:10.1002/ijc.20280
文献    
PMID:21882293 (DICER1)
  著者
Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR
  タイトル
Extending the phenotypes associated with DICER1 mutations.
  雑誌
Hum Mutat 32:1381-4 (2011)
DOI:10.1002/humu.21600
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