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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gigantism
Comorbidity C0041341|tuberous sclerosis
Sentences 32
PubMedID- 20643042 Objective: presentation of 8 patients with subependymal giant-cell astrocytomas (sgca) associated with tuberous sclerosis complex (tsc).
PubMedID- 24708766 The rapamycin analogs cci-779 (temsirolimus) and rad001 (everolimus) are approved for the clinical treatment of advanced renal cell carcinoma [28], progressive neuroendocrine tumors of pancreatic origin [29], subependymal giant cell astrocytoma associated with tuberous sclerosis [30], and more recently for postmenopausal women with advanced hormone receptor-positive, her2-negative breast cancer in combination with the aromatase inhibitor exemestane [31].
PubMedID- 23158522 Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (exist-1): a multicentre, randomised, placebo-controlled phase 3 trial.
PubMedID- 21792104 Mtor inhibitors in the treatment of subependymal giant-cell astrocytomas associated with tuberous sclerosis.
PubMedID- 24056156 Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with mammalian target of rapamycin inhibitors.
PubMedID- 26199482 giant renal angiomyolipomas in a patient with tuberous sclerosis.
PubMedID- 24667738 This analysis focuses on the clinical presentation, management, and associated burden of subependymal giant cell astrocytomas in patients with tuberous sclerosis complex in the united states.
PubMedID- 23743818 Recent studies support the use of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis and suggest it might represent a disease-modifying treatment for other aspects of tuberous sclerosis.
PubMedID- 25493579 [subependymal giant cell astrocytoma associated with tuberous sclerosis complex - pharmacological treatment using mtor inhibitors].
PubMedID- 25227171 Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.
PubMedID- PMC3518234 Down-regulation of mtor kinase by everolimus has been successfully used for the therapy of subependymal giant-cell astrocytomas in patients with tuberous sclerosis.
PubMedID- 23686401 Everolimus is a mammalian target of rapamycin (mtor) inhibitor approved for the treatment of advanced renal cell carcinoma, pancreatic neuroendocrine tumors, subependymal giant cell astrocytoma associated with tuberous sclerosis complex, renal angiomyolipoma and tuberous sclerosis complex, and, in combination with exemestane, for hormone receptor-positive her2-negative advanced breast cancer after failure of treatment with letrozole or anastrozole.
PubMedID- 24105488 We review the timing and use of surgery versus pharmacotherapy for the treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex.
PubMedID- 23404211 It is approved for the treatment of patients with progressive neuroendocrine tumors of pancreatic origin, advanced renal cell carcinoma, and subependymal giant cell astrocytoma associated with tuberous sclerosis [12].
PubMedID- 22552000 Background: giant angiofibromas in patients with tuberous sclerosis complex (tsc) are rare.
PubMedID- 22136276 Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
PubMedID- 23567018 Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
PubMedID- 23988820 giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life.
PubMedID- 23231513 Everolimus (rad001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
PubMedID- 24244540 Everolimus has been approved for second-line therapy of patients with renal cell carcinoma after failure of treatment with sunitinib and for the treatment of papillary renal carcinoma, pancreatic neuroendocrine tumor, some types of breast cancer, and subependymal giant cell astrocytoma associated with tuberous sclerosis [24]–[28].
PubMedID- 23138436 Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding.
PubMedID- 24667713 Everolimus has demonstrated substantial clinical benefit in randomized, controlled, phase iii studies leading to approval for the treatment of advanced renal cell carcinoma, advanced neuroendocrine tumors of pancreatic origin, renal angiomyolipoma and subependymal giant-cell astrocytoma associated with tuberous sclerosis complex, as well as advanced hormone-receptor-positive (hr(+)) and human epidermal growth factor receptor-2-negative advanced breast cancer.
PubMedID- 23538357 Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma.
PubMedID- 21047224 Background: neurosurgical resection is the standard treatment for subependymal giant-cell astrocytomas in patients with the tuberous sclerosis complex.
PubMedID- 25557360 Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.
PubMedID- 23788851 On the other hand, the mtor inhibitor rapamycin is found to be useful in tuberous sclerosis patients with subependymal giant cell astrocytomas.
PubMedID- 22234227 Hemorrhagic subependymal giant cell astrocytoma in a patient with tuberous sclerosis: case report and review of the literature.
PubMedID- 25143481 Everolimus treatment for an early infantile subependymal giant cell astrocytoma with tuberous sclerosis complex.
PubMedID- 23548133 Down-regulation of mtor kinase by everolimus has been successfully used for the therapy of subependymal giant-cell astrocytomas in patients with tuberous sclerosis.
PubMedID- 20887114 Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex.
PubMedID- 22805244 Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
PubMedID- 25682485 Conclusion: everolimus is a promising pharmacological approach to treat clinically significant inoperable cardiac rhabdomyomas or subependymal giant cell astrocytoma associated with tuberous sclerosis complex during the neonatal period.

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