KEGG   DISEASE: 子宮筋腫
エントリ  
H01640                                                             
名称    
子宮筋腫
概要    
Uterine leiomyoma, also known as fibroid, is the most common benign neoplasm of the female genital tract. It is a discrete, round, firm, often multiple uterine tumor composed of smooth muscle and connective tissue. The findings derived from high-throughput sequencing combined with previous knowledge have led to an emerging molecular classification of leiomyomas, suggesting that there are several distinct pathogenic pathways involved in leiomyoma formation. The evidence points to at least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. While it is thought that the initial events that trigger leiomyoma tumorigenesis involves somatic mutations, it is evident that the development and growth of leiomyoma are highly dependent on ovarian steroid hormones, in particular, progesterone.
カテゴリ  
生殖器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   良性間葉系腫瘍
    2E86  良性平滑筋または骨格筋腫瘍
     H01640  子宮筋腫
パスウェイ 
hsa04512  ECM-receptor interaction
病因遺伝子 
HMGA2 (rearrangement) [HSA:8091] [KO:K09283]
MED12 (mutation) [HSA:9968] [KO:K15162]
COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237]
Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679]
治療薬   
ナファレリン酢酸塩水和物 [DR:D00990]
ブセレリン酢酸塩 [DR:D01831]
リュープロレリン酢酸塩 [DR:D00989]
レルゴリクス [DR:D10888]
リンク   
ICD-11: 2E86.0
MeSH: D007889
OMIM: 150699
文献    
  著者
Kim JJ, Sefton EC
  タイトル
The role of progesterone signaling in the pathogenesis of uterine leiomyoma.
  雑誌
Mol Cell Endocrinol 358:223-31 (2012)
DOI:10.1016/j.mce.2011.05.044
文献    
  著者
Mehine M, Makinen N, Heinonen HR, Aaltonen LA, Vahteristo P
  タイトル
Genomics of uterine leiomyomas: insights from high-throughput sequencing.
  雑誌
Fertil Steril 102:621-9 (2014)
DOI:10.1016/j.fertnstert.2014.06.050
文献    
  著者
Hodge JC, Morton CC
  タイトル
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
  雑誌
Hum Mol Genet 16 Spec No 1:R7-13 (2007)
DOI:10.1093/hmg/ddm043
文献    
  著者
Moravek MB, Yin P, Ono M, Coon JS 5th, Dyson MT, Navarro A, Marsh EE, Chakravarti D, Kim JJ, Wei JJ, Bulun SE
  タイトル
Ovarian steroids, stem cells and uterine leiomyoma: therapeutic implications.
  雑誌
Hum Reprod Update 21:1-12 (2015)
DOI:10.1093/humupd/dmu048
文献    
  著者
Taylor DK, Holthouser K, Segars JH, Leppert PC
  タイトル
Recent scientific advances in leiomyoma (uterine fibroids) research facilitates better understanding and management.
  雑誌
F1000Res 4:183 (2015)
DOI:10.12688/f1000research.6189.1
文献    
  著者
Doherty L, Mutlu L, Sinclair D, Taylor H
  タイトル
Uterine fibroids: clinical manifestations and contemporary management.
  雑誌
Reprod Sci 21:1067-92 (2014)
DOI:10.1177/1933719114533728
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