KEGG   DISEASE: 慢性骨髄性白血病
エントリ  
H00004                                                             
名称    
慢性骨髄性白血病
概要    
Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes. Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1. Additional chromosome translocations are also observed,such as t(3;21)(q26;q22), which generates AML1-EVI1.
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  造血組織およびリンパ系組織のがん
   H00004  慢性骨髄性白血病
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  造血またはリンパ組織の腫瘍
   骨髄増殖性腫瘍
    2A20  非肥満細胞の骨髄増殖性腫瘍
     H00004  慢性骨髄性白血病
パスウェイ 
hsa05220  慢性骨髄性白血病
関連パスウェイ
hsa05200  Pathways in cancer
ネットワーク
nt06276  Chronic myeloid leukemia
病因遺伝子 
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
MECOM (overexpression) [HSA:2122] [KO:K04462]
RUNX1 (translocation) [HSA:861] [KO:K08367]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
発癌物質  
1,3-Butadiene [CPD:C16450]
Rubber industry
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
ヒドロコルチゾン [DR:D00088]
コルチゾン酢酸エステル [DR:D00973]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロン酢酸エステル [DR:D00979]
メトトレキサート [DR:D00142]
シクロホスファミド水和物 [DR:D00287]
ブスルファン [DR:D00248]
ラニムスチン [DR:D01760]
メルカプトプリン水和物 [DR:D00161]
シタラビン [DR:D00168]
フルダラビンリン酸エステル [DR:D01907]
ヒドロキシカルバミド [DR:D00341]
マイトマイシンC [DR:D00208]
ダウノルビシン塩酸塩 [DR:D01264]
イダルビシン塩酸塩 [DR:D01747]
ビンデシン硫酸塩 [DR:D01769]
ミトキサントロン塩酸塩 [DR:D02166]
イマチニブメシル酸塩 [DR:D01441]
ダサチニブ水和物 [DR:D06414]
ニロチニブ塩酸塩水和物 [DR:D06413]
ボスチニブ水和物 [DR:D09728]
ポナチニブ塩酸塩 [DR:D09951]
アシミニブ塩酸塩 [DR:D11404]
インターフェロンアルファ (NAMALWA) [DR:D03305]
リンク   
ICD-11: 2A20.0
ICD-10: C92.1
MeSH: D015464
OMIM: 608232
文献    
PMID:15719031 (BCR-ABL, MECOM, RUNX1, CDKN2A, TP53, RB1)
  著者
Ren R.
  タイトル
Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia.
  雑誌
Nat Rev Cancer 5:172-83 (2005)
DOI:10.1038/nrc1567
文献    
  著者
Faderl S, Talpaz M, Estrov Z, O'Brien S, Kurzrock R, Kantarjian HM.
  タイトル
The biology of chronic myeloid leukemia.
  雑誌
N Engl J Med 341:164-72 (1999)
DOI:10.1056/NEJM199907153410306
文献    
  著者
Calabretta B, Perrotti D.
  タイトル
The biology of CML blast crisis.
  雑誌
Blood 103:4010-22 (2004)
DOI:10.1182/blood-2003-12-4111
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