scholarly journals Mammalian target of rapamycin inhibitor and transarterial embolization of tuberous sclerosis complex-associated renal angiomyolipoma: A case series

2016 ◽  
Vol 27 (2) ◽  
pp. S51
Author(s):  
Wei-Chung Hsiao ◽  
Jeng-Dau Tsai ◽  
Yu-Lin Kao ◽  
Shao-Chuan Wang ◽  
Wen-Jung Chen ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Transarterial Embolization ◽  
Mammalian Target Of Rapamycin ◽  
Case Series ◽  
Target Of Rapamycin ◽  
Renal Angiomyolipoma

Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex

2016 ◽  
Vol 26 (5) ◽  
pp. 1025-1028 ◽  
Author(s):  
Massimo Colaneri ◽  
Andrea Quarti ◽  
Marco Pozzi
Keyword(s):  
Side Effects ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mammalian Target Of Rapamycin ◽  
Target Of Rapamycin ◽  
Renal Angiomyolipoma ◽  
Cardiac Rhabdomyoma

AbstractWe report a case of a newborn, affected by tuberous sclerosis complex, with a prenatally diagnosed giant cardiac rhabdomyoma associated with a large renal angiomyolipoma presenting as a duct-depending lesion not treatable by surgery. After receiving everolimus, a mammalian target of rapamycin inhibitor, we observed a rapid, significant, and durable reduction of both lesions without remarkable side effects.

scholarly journals RARE-25. RETINAL ASTROCYTOMA mTOR INHIBITOR THERAPY IN TUBEROUS SCLEROSIS MOSAICISM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii447-iii447
Author(s):  
Naomi Evans ◽  
Katherine Paton ◽  
Harinder Kaur Gill ◽  
Juliette Hukin
Keyword(s):  
Optic Nerve ◽  
Retinal Detachment ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mtor Inhibitor ◽  
Mammalian Target Of Rapamycin ◽  
Neovascular Glaucoma ◽  
Renal Angiomyolipoma ◽  
Gradual Reduction ◽  
Health Canada

Abstract INTRODUCTION Everolimus is an inhibitor of mTORC1 (mammalian target of rapamycin complex 1), it is Health Canada and FDA approved for SEGA and renal angiomyolipoma in the setting of tuberous sclerosis complex (TSC). There is little data available in regards to this treatment of TSC associated retinal astrocytoma (RA). Although the behaviour of RA is often indolent or slowly progressive, aggressive behaviour with retinal detachment and neovascular glaucoma requiring enucleation has been reported in several patients. Definite TSC diagnosis is established when either two major features or one major and two minor features are present. Probable TSC diagnosis is established when one major plus one minor feature is present. METHODS We report a child with probable TSC mosaicism, with negative serum NGS for TSC but RA and retinal achromic patch on the left. A left retinal peripapillary astrocytoma around optic nerve and very close to fovea was noted. There was concern that if it grew or there were to be any leakage it would cause visual impairment. This lead to therapy with everolimus 4.5 mg/m2/d aiming for level between 5 and 10 mcg/L. RESULTS This boy has had a gradual reduction of the RA over the last 29 months, with healthy retina in the region no longer occupied by the lesion and preserved vision. He has tolerated therapy well with occasional mouth ulcers. CONCLUSION mTORC1 inhibition is effective therapy to preserve vision in the setting of retinal astrocytoma and tuberous sclerosis mosaicism.

scholarly journals Loss of Tuberous Sclerosis Complex-2 Function and Activation of Mammalian Target of Rapamycin Signaling in Endometrial Carcinoma

2008 ◽  
Vol 14 (9) ◽  
pp. 2543-2550 ◽  
Author(s):  
Karen H. Lu ◽  
Weiguo Wu ◽  
Bhuvanesh Dave ◽  
Brian M. Slomovitz ◽  
Thomas W. Burke ◽  
...  
Keyword(s):  
Endometrial Carcinoma ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mammalian Target Of Rapamycin ◽  
Target Of Rapamycin

Rapid regression of large cardiac rhabdomyomas in neonates after sirolimus therapy

2017 ◽  
Vol 28 (3) ◽  
pp. 485-489 ◽  
Author(s):  
M. David Weiland ◽  
Kristin Bonello ◽  
Kevin D. Hill
Keyword(s):  
Clinical Trials ◽  
Tuberous Sclerosis ◽  
Surgical Resection ◽  
Tuberous Sclerosis Complex ◽  
Spontaneous Regression ◽  
Mammalian Target Of Rapamycin ◽  
Target Of Rapamycin ◽  
Rapid Regression

AbstractCardiac rhabdomyomas are the most common tumours in children and are typically seen in association with the tuberous sclerosis complex. Although benign and often associated with spontaneous regression, in rare circumstances surgical resection is indicated to relieve obstruction or other mass-related effects. Recent clinical trials have demonstrated the benefits of mammalian target of rapamycin inhibitors for the treatment of other tumour sub-types associated with tuberous sclerosis. Here we report rapid regression of several massive cardiac rhadomyomas in two neonates with the use of the mammalian target of rapamycin inhibitor sirolimus.

Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors

2013 ◽  
Vol 29 (9) ◽  
pp. NP54-NP57 ◽  
Author(s):  
Giulia Prato ◽  
Maria Margherita Mancardi ◽  
Maria Giuseppina Baglietto ◽  
Sara Janis ◽  
Nadia Vercellino ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Mammalian Target Of Rapamycin ◽  
Target Of Rapamycin
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