| H01691 | |
| H番号 | H01691 |
| 名称 | 腎血管筋脂肪腫 |
| 概要 | Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins hamartin and tuberin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1. |
| カテゴリ | 新生物 |
| ネットワーク | nt06522(H01691) mTOR signaling |
| 病因遺伝子 | (TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | エベロリムス [DR:D02714] |
| コメント | See also H00915 Tuberous sclerosis complex (TSC) |
| リンク | ICD-11: 2F35 ICD-10: D30.0 MeSH: D018207 |
| 文献 | PMID:26612197 著者 Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB タイトル Update on the Diagnosis and Management of Renal Angiomyolipoma. 雑誌 J Urol 195:834-46 (2016) DOI:10.1016/j.juro.2015.07.126 PMID:21949787 (TSC2) 著者 Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ タイトル Angiomyolipoma have common mutations in TSC2 but no other common genetic events. 雑誌 PLoS One 6:e24919 (2011) DOI:10.1371/journal.pone.0024919 PMID:31927531 (TSC1 TSC2) 著者 Jiangyi W, Gang G, Guohai S, Dingwei Y タイトル Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. 雑誌 Aging (Albany NY) 12:756-766 (2020) DOI:10.18632/aging.102654 |