KEGG   DISEASE: Uterine leiomyomaHelp
Entry
H01640                      Disease                                

Name
Uterine leiomyoma;
Fibroid
Description
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.
Category
Reproductive system disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H01640  Uterine leiomyoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign mesenchymal neoplasms
    2E86  Benign smooth muscle or skeletal muscle tumour
     H01640  Uterine leiomyoma
BRITE hierarchy
Gene
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]
Drug
Leuprolide acetate [DR:D00989]
Comment
ICD-O-3: 8890/0 Leiomyoma, NOS
Other DBs
ICD-11: 2E86.0
ICD-10: D25
MeSH: D007889
OMIM: 150699
Reference
(drug)
  Authors
Papadakis MA and McPhee SJ |(ed)
  Title
Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
  Journal
McGraw Hill Education
Reference
  Authors
Kim JJ, Sefton EC
  Title
The role of progesterone signaling in the pathogenesis of uterine leiomyoma.
  Journal
Mol Cell Endocrinol 358:223-31 (2012)
DOI:10.1016/j.mce.2011.05.044
Reference
  Authors
Mehine M, Makinen N, Heinonen HR, Aaltonen LA, Vahteristo P
  Title
Genomics of uterine leiomyomas: insights from high-throughput sequencing.
  Journal
Fertil Steril 102:621-9 (2014)
DOI:10.1016/j.fertnstert.2014.06.050
Reference
  Authors
Hodge JC, Morton CC
  Title
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
  Journal
Hum Mol Genet 16 Spec No 1:R7-13 (2007)
DOI:10.1093/hmg/ddm043
Reference
PMID:25205766 (drug)
  Authors
Moravek MB, Yin P, Ono M, Coon JS 5th, Dyson MT, Navarro A, Marsh EE, Chakravarti D, Kim JJ, Wei JJ, Bulun SE
  Title
Ovarian steroids, stem cells and uterine leiomyoma: therapeutic implications.
  Journal
Hum Reprod Update 21:1-12 (2015)
DOI:10.1093/humupd/dmu048
Reference
  Authors
Taylor DK, Holthouser K, Segars JH, Leppert PC
  Title
Recent scientific advances in leiomyoma (uterine fibroids) research facilitates better understanding and management.
  Journal
F1000Res 4:183 (2015)
DOI:10.12688/f1000research.6189.1
Reference
  Authors
Doherty L, Mutlu L, Sinclair D, Taylor H
  Title
Uterine fibroids: clinical manifestations and contemporary management.
  Journal
Reprod Sci 21:1067-92 (2014)
DOI:10.1177/1933719114533728

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