| H01640 | |
| H番号 | 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 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] |
| コメント | - |
| リンク | ICD-11: 2E86.0 ICD-10: D25 MeSH: D007889 OMIM: 150699 |
| 文献 | PMID:21672608 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 PMID:25106763 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 PMID:17613550 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 PMID:25205766 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 PMID:26236472 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 PMID:24819877 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 |