H01691 | |
H number | H01691 |
Name | Renal angiomyolipoma |
Description | 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. |
Category | Neoplasm |
Network | nt06522(H01691) mTOR signaling |
Gene | (TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Everolimus [DR:D02714] |
Comment | See also H00915 Tuberous sclerosis complex (TSC) |
Other DBs | ICD-11: 2F35 ICD-10: D30.0 MeSH: D018207 |
Reference | PMID:26612197 AUTHORS Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB TITLE Update on the Diagnosis and Management of Renal Angiomyolipoma. JOURNAL J Urol 195:834-46 (2016) DOI:10.1016/j.juro.2015.07.126 PMID:21949787 (TSC2) AUTHORS Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ TITLE Angiomyolipoma have common mutations in TSC2 but no other common genetic events. JOURNAL PLoS One 6:e24919 (2011) DOI:10.1371/journal.pone.0024919 PMID:31927531 (TSC1 TSC2) AUTHORS Jiangyi W, Gang G, Guohai S, Dingwei Y TITLE Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. JOURNAL Aging (Albany NY) 12:756-766 (2020) DOI:10.18632/aging.102654 |