Reference Detail

Ref Type

Journal Article

PMID

(24044547)

Authors

Moavero R, Coniglio A, Garaci F, Curatolo P

Title

Is mTOR inhibition a systemic treatment for tuberous sclerosis?

Journal	Vol	Issue	Date	Pages	Journal Short Title
Italian journal of pediatrics	39		2013	57	Ital J Pediatr

URL

Abstract Text

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by the development of hamartomas in several organs. Mutations in the TSC1 and TSC2 tumor suppressor genes determin overactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnormalities in numerous cell processes. As a result, mTOR inhibitors such as sirolimus and everolimus have the potential to provide targeted therapy for TSC patients. Everolimus has been recently approved as a pharmacotherapy option for TSC patients with subependymal giant-cell astrocytomas (SEGAs) or renal angiomyolipomas (AMLs). However, clinical evidence suggests that this treatment can benefit other TSC-associated disease manifestations, such as skin manifestations, pulmonary lymphangioleiomyomatosis, cardiac rhabdomyomas, and epilepsy. Therefore, the positive effects that mTOR inhibition have on a wide variety of TSC disease manifestations make this a potential systemic treatment option for this genetic multifaceted disorder.

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Molecular Profile	Treatment Approach
TSC1 P602Sfs*4	mTORC1 Inhibitor
TSC1 E801*	mTOR Inhibitor
TSC2 A1349Gfs*64	mTOR Inhibitor
TSC1 L117P	mTOR Inhibitor
TSC2 G1544V	mTOR Inhibitor
TSC2 R98W	mTOR Inhibitor
TSC1 L203fs	mTOR Inhibitor
TSC1 R204C	mTORC1 Inhibitor
TSC2 K347Efs*36	mTOR Inhibitor
TSC1 V46Wfs*16	mTORC1 Inhibitor
TSC2 R1200P	mTOR Inhibitor
TSC2 F1668L	mTORC1 Inhibitor
TSC1 R98*	mTORC1 Inhibitor
TSC2 R905Q	mTOR Inhibitor
TSC2 Q325*	mTORC1 Inhibitor
TSC2 L369P	mTOR Inhibitor
TSC2 V1067E	mTOR Inhibitor
TSC2 G305*	mTOR Inhibitor
TSC1 S561fs	mTOR Inhibitor
TSC2 T1068I	mTOR Inhibitor
TSC2 R611W	mTOR Inhibitor
TSC2 T147K	mTOR Inhibitor
TSC1 M224R	mTOR Inhibitor
TSC2 S1085fs	mTOR Inhibitor
TSC2 R458*	mTOR Inhibitor
TSC1 Y312*	mTOR Inhibitor
TSC2 R622W	mTOR Inhibitor
TSC2 Q1192*	mTORC1 Inhibitor
TSC2 R1138*	mTORC1 Inhibitor
TSC2 G305*	mTORC1 Inhibitor
TSC1 L557Cfs*72	mTORC1 Inhibitor
TSC2 H1718P	mTOR Inhibitor
TSC1 L191H	mTORC1 Inhibitor
TSC2 V769E	mTORC1 Inhibitor
TSC1 F216*	mTORC1 Inhibitor
TSC2 L916P	mTORC1 Inhibitor
TSC2 V769E	mTOR Inhibitor
TSC1 L557Cfs*72	mTOR Inhibitor
TSC2 A607E	mTOR Inhibitor
TSC1 E801*	mTORC1 Inhibitor
TSC1 P602Sfs*4	mTOR Inhibitor
TSC2 L264Wfs*73	mTORC1 Inhibitor
TSC2 N275del	mTORC1 Inhibitor
TSC2 G1544V	mTORC1 Inhibitor
TSC1 Q413*	mTOR Inhibitor
TSC2 H1746_R1751del	mTOR Inhibitor
TSC2 E138*	mTORC1 Inhibitor
TSC2 S1798A	mTORC1 Inhibitor
TSC1 S331Efs*10	mTOR Inhibitor
TSC2 A607E	mTORC1 Inhibitor
TSC1 L87*	mTORC1 Inhibitor
TSC2 R1138*	mTOR Inhibitor
TSC2 F1668L	mTOR Inhibitor
TSC1 R509*	mTORC1 Inhibitor
TSC2 E96*	mTORC1 Inhibitor
TSC1 Q413Rfs*27	mTORC1 Inhibitor
TSC1 L116fs	mTOR Inhibitor
TSC1 S282*	mTORC1 Inhibitor
TSC2 V504D	mTOR Inhibitor
TSC1 M224R	mTORC1 Inhibitor
TSC2 S1798A	mTOR Inhibitor
TSC2 W304Ffs*27	mTORC1 Inhibitor
TSC1 L117P	mTORC1 Inhibitor
TSC2 Q417*	mTOR Inhibitor
TSC1 R245*	mTORC1 Inhibitor
TSC1 R692*	mTOR Inhibitor
TSC1 R509*	mTOR Inhibitor
TSC2 P1176fs	mTOR Inhibitor
TSC1 L180P	mTOR Inhibitor
TSC2 A614D	mTOR Inhibitor
TSC1 M18Cfs*8	mTOR Inhibitor
TSC2 G654Efs*45	mTORC1 Inhibitor
TSC2 M280T	mTOR Inhibitor
TSC1 Y185*	mTORC1 Inhibitor
TSC2 F615S	mTORC1 Inhibitor
TSC1 R22W	mTORC1 Inhibitor
TSC1 R500*	mTORC1 Inhibitor
TSC2 L1597Rfs*4	mTORC1 Inhibitor
TSC1 inact mut	mTORC1 Inhibitor
TSC2 V1547I	mTORC1 Inhibitor
TSC2 Q785*	mTOR Inhibitor
TSC2 C900*	mTOR Inhibitor
TSC2 N1064Kfs*104	mTOR Inhibitor
TSC2 L264Wfs*73	mTOR Inhibitor
TSC1 F216Dfs*3	mTOR Inhibitor
TSC1 Q413Rfs*27	mTOR Inhibitor
TSC2 L916P	mTOR Inhibitor
TSC1 M18Cfs*8	mTORC1 Inhibitor
TSC2 R1720Q	mTORC1 Inhibitor
TSC2 V299fs	mTORC1 Inhibitor
TSC2 I365del	mTOR Inhibitor
TSC2 Q325*	mTOR Inhibitor
TSC2 S1723*	mTOR Inhibitor
TSC1 K477*	mTOR Inhibitor
TSC2 F615S	mTOR Inhibitor
TSC1 R98*	mTOR Inhibitor
TSC1 E636fs	mTOR Inhibitor
TSC1 R190P	mTOR Inhibitor
TSC1 D291Lfs*22	mTORC1 Inhibitor
TSC2 T1068I	mTORC1 Inhibitor
TSC2 E114*	mTORC1 Inhibitor
TSC2 R1459*	mTOR Inhibitor
TSC2 V504D	mTORC1 Inhibitor
TSC1 F216Dfs*3	mTORC1 Inhibitor
TSC1 L116fs	mTORC1 Inhibitor
TSC2 R1720Q	mTOR Inhibitor
TSC1 M194Afs*13	mTOR Inhibitor
TSC2 R905fs	mTOR Inhibitor
TSC2 R1459*	mTORC1 Inhibitor
TSC1 del	mTORC1 Inhibitor
TSC1 Q516*	mTOR Inhibitor
TSC2 E138*	mTOR Inhibitor
TSC2 V909Cfs*6	mTORC1 Inhibitor
TSC2 Q1503*	mTORC1 Inhibitor
TSC2 N1643H	mTOR Inhibitor
TSC2 V1199G	mTOR Inhibitor
TSC2 D514Pfs*74	mTOR Inhibitor
TSC2 C696Y	mTORC1 Inhibitor
TSC1 F216*	mTOR Inhibitor
TSC2 N275del	mTOR Inhibitor
TSC2 R98W	mTORC1 Inhibitor
TSC1 R22W	mTOR Inhibitor
TSC2 R1743W	mTORC1 Inhibitor
TSC2 E96*	mTOR Inhibitor
TSC2 R611W	mTORC1 Inhibitor
TSC2 G294E	mTORC1 Inhibitor
TSC2 G654Efs*45	mTOR Inhibitor
TSC2 A1003fs	mTORC1 Inhibitor
TSC2 D514Pfs*74	mTORC1 Inhibitor
TSC2 N1064Kfs*104	mTORC1 Inhibitor
TSC1 N198_F199delinsI	mTORC1 Inhibitor
TSC2 I1561Hfs*5	mTORC1 Inhibitor
TSC2 R901C	mTOR Inhibitor
TSC2 D1690fs	mTOR Inhibitor
TSC2 L1750Afs*25	mTORC1 Inhibitor
TSC2 I365del	mTORC1 Inhibitor
TSC1 D291Lfs*22	mTOR Inhibitor
TSC2 H1617Y	mTOR Inhibitor
TSC1 R245*	mTOR Inhibitor
TSC2 Q1178*	mTOR Inhibitor
TSC2 H1617Y	mTORC1 Inhibitor
TSC1 R692*	mTORC1 Inhibitor
TSC1 Y312*	mTORC1 Inhibitor
TSC2 del	mTOR Inhibitor
TSC1 R420Gfs*20	mTOR Inhibitor
TSC2 Q200fs	mTORC1 Inhibitor
TSC2 A1003fs	mTOR Inhibitor
TSC1 V128del	mTOR Inhibitor
TSC2 L1597Rfs*4	mTOR Inhibitor
TSC1 Y185*	mTOR Inhibitor
TSC2 D1690fs	mTORC1 Inhibitor
TSC2 Q112*	mTOR Inhibitor
TSC1 L191H	mTOR Inhibitor
TSC2 S1723*	mTORC1 Inhibitor
TSC1 L87*	mTOR Inhibitor
TSC2 C900*	mTORC1 Inhibitor
TSC2 P28fs	mTORC1 Inhibitor
TSC2 R458*	mTORC1 Inhibitor
TSC1 V46Wfs*16	mTOR Inhibitor
TSC1 R424fs	mTOR Inhibitor
TSC2 R905fs	mTORC1 Inhibitor
TSC1 S331Efs*10	mTORC1 Inhibitor
TSC2 V1646G	mTOR Inhibitor
TSC2 Q90*	mTORC1 Inhibitor
TSC1 W164*	mTORC1 Inhibitor
TSC2 R308W	mTOR Inhibitor
TSC2 E114*	mTOR Inhibitor
TSC1 R190P	mTORC1 Inhibitor
TSC1 S410*	mTORC1 Inhibitor
TSC2 C696Y	mTOR Inhibitor
TSC2 V909Cfs*6	mTOR Inhibitor
TSC1 loss	mTOR Inhibitor
TSC2 N1643H	mTORC1 Inhibitor
TSC2 T147K	mTORC1 Inhibitor
TSC1 R500*	mTOR Inhibitor
TSC2 V1199G	mTORC1 Inhibitor
TSC2 P1176fs	mTORC1 Inhibitor
TSC2 A614D	mTORC1 Inhibitor
TSC2 D1512A	mTOR Inhibitor
TSC2 R622W	mTORC1 Inhibitor
TSC1 R424fs	mTORC1 Inhibitor
TSC2 L1750Afs*25	mTOR Inhibitor
TSC2 D1598fs	mTORC1 Inhibitor
TSC2 W304Ffs*27	mTOR Inhibitor
TSC2 Q1178*	mTORC1 Inhibitor
TSC2 R611Q	mTOR Inhibitor
TSC2 L369P	mTORC1 Inhibitor
TSC2 del	mTORC1 Inhibitor
TSC2 P28fs	mTOR Inhibitor
TSC1 R420Gfs*20	mTORC1 Inhibitor
TSC2 I1197F	mTOR Inhibitor
TSC1 E636fs	mTORC1 Inhibitor
TSC1 loss	mTORC1 Inhibitor
TSC2 Q417*	mTORC1 Inhibitor
TSC1 A186fs	mTORC1 Inhibitor
TSC1 A186fs	mTOR Inhibitor
TSC1 del	mTOR Inhibitor
TSC1 S282*	mTOR Inhibitor
TSC2 R1200P	mTORC1 Inhibitor
TSC2 D1512A	mTORC1 Inhibitor
TSC1 Q55Sfs*7	mTOR Inhibitor
TSC1 L180P	mTORC1 Inhibitor
TSC1 N198_F199delinsI	mTOR Inhibitor
TSC1 E78*	mTOR Inhibitor
TSC2 loss	mTORC1 Inhibitor
TSC2 W1208*	mTORC1 Inhibitor
TSC2 T1059Nfs*109	mTORC1 Inhibitor
TSC2 R1743W	mTOR Inhibitor
TSC2 R751*	mTOR Inhibitor
TSC2 T1059Nfs*109	mTOR Inhibitor
TSC2 E652fs	mTORC1 Inhibitor
TSC2 S1045F	mTOR Inhibitor
TSC2 I1197F	mTORC1 Inhibitor
TSC1 M18fs	mTOR Inhibitor
TSC2 G294E	mTOR Inhibitor
TSC2 R905Q	mTORC1 Inhibitor
TSC2 R505*	mTORC1 Inhibitor
TSC2 R505*	mTOR Inhibitor
TSC2 V1547I	mTOR Inhibitor
TSC1 V128del	mTORC1 Inhibitor
TSC1 S410*	mTOR Inhibitor
TSC2 Q90*	mTOR Inhibitor
TSC2 S1085fs	mTORC1 Inhibitor
TSC2 H1718P	mTORC1 Inhibitor
TSC1 E78*	mTORC1 Inhibitor
TSC2 W1208*	mTOR Inhibitor
TSC1 M18fs	mTORC1 Inhibitor
TSC2 E652fs	mTOR Inhibitor
TSC1 S561fs	mTORC1 Inhibitor
TSC2 Q1503*	mTOR Inhibitor
TSC2 R611Q	mTORC1 Inhibitor
TSC2 V1623G	mTORC1 Inhibitor
TSC2 V1067E	mTORC1 Inhibitor
TSC2 Q200fs	mTOR Inhibitor
TSC1 R204C	mTOR Inhibitor
TSC1 M194Afs*13	mTORC1 Inhibitor
TSC2 S1045F	mTORC1 Inhibitor
TSC2 A1349Gfs*64	mTORC1 Inhibitor
TSC2 H1746_R1751del	mTORC1 Inhibitor
TSC2 V299fs	mTOR Inhibitor
TSC1 Q55Sfs*7	mTORC1 Inhibitor
TSC2 K347Efs*36	mTORC1 Inhibitor
TSC2 M280T	mTORC1 Inhibitor
TSC2 I1561Hfs*5	mTOR Inhibitor
TSC2 R751*	mTORC1 Inhibitor
TSC1 Q516*	mTORC1 Inhibitor
TSC1 inact mut	mTOR Inhibitor
TSC2 D1598fs	mTOR Inhibitor
TSC2 Q1192*	mTOR Inhibitor
TSC2 inact mut	mTORC1 Inhibitor
TSC2 V1646G	mTORC1 Inhibitor
TSC1 Q413*	mTORC1 Inhibitor
TSC1 W164*	mTOR Inhibitor
TSC2 loss	mTOR Inhibitor
TSC2 Q112*	mTORC1 Inhibitor
TSC2 R308W	mTORC1 Inhibitor
TSC2 Q785*	mTORC1 Inhibitor
TSC1 K477*	mTORC1 Inhibitor
TSC1 L203fs	mTORC1 Inhibitor
TSC2 V1623G	mTOR Inhibitor
TSC2 inact mut	mTOR Inhibitor
TSC2 R901C	mTORC1 Inhibitor

Gene Name	Source	Synonyms	Protein Domains	Gene Description	Gene Role

Therapy Name	Drugs	Efficacy Evidence	Clinical Trials

Drug Name	Trade Name	Synonyms	Drug Classes	Drug Description

Gene	Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References