|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 tuberin and hamartin, 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.|
|Gene||TSC1 (mutation) [HSA:7248] [KO:K07206]
TSC2 (mutation) [HSA:7249] [KO:K07207]
|Comment||See also H00915 Tuberous sclerosis complex (TSC)|
|Other DBs||ICD-10: D30.0
|Reference||PMID:26612197 (gene, drug)
Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB
Update on the Diagnosis and Management of Renal Angiomyolipoma.
J Urol 195:834-46 (2016)
Lienert AR, Nicol D
BJU Int 110 Suppl 4:25-7 (2012)
Bhatt JR, Richard PO, Kim NS, Finelli A, Manickavachagam K, Legere L, Evans A, Pei Y, Sykes J, Jhaveri K, Jewett MA
Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs >4cm Can Be Offered Active Surveillance as an Initial Management Strategy.
Eur Urol 70:85-90 (2016)
Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas.
J Am Assoc Nurse Pract 25:588-96 (2013)
Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ
Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
PLoS One 6:e24919 (2011)