| H01640 | |
| H number | H01640 |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Elagolix, estradiol and norethisterone [DR:D12137] Leuprolide acetate [DR:D00989] |
| Comment | - |
| Other DBs | ICD-11: 2E86.0 ICD-10: D25 MeSH: D007889 OMIM: 150699 |
| Reference | PMID:21672608 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 PMID:25106763 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 PMID:17613550 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 PMID:25205766 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 PMID:26236472 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 PMID:24819877 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 |