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
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign non-mesenchymal neoplasms
2F35 Benign neoplasm of urinary organs
H01691 Renal angiomyolipoma
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H01691 Renal angiomyolipoma
Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have demonstrated that mTOR inhibitors can induce regression of SEGA in patients with TSC, providing a viable alternative to surgical removal.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Neoplasms of brain or central nervous system
2A00 Primary neoplasms of brain
H01692 Subependymal giant cell astrocytoma
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H01692 Subependymal giant cell astrocytoma
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmuller G, Touraine R
Title
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
