Possible Prevention of Tuberous Sclerosis Complex Lesions

@article{Kotulska2013PossiblePO,
  title={Possible Prevention of Tuberous Sclerosis Complex Lesions},
  author={Katarzyna Kotulska and Julita Borkowska and Sergiusz J{\'o}źwiak},
  journal={Pediatrics},
  year={2013},
  volume={132},
  pages={e239 - e242}
}
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by mammalian target of rapamycin (mTOR) activation and growth of benign tumors. Some TSC lesions, such as cardiac rhabdomyomas and cortical tubers in the brain, occur in fetuses, and some, such as renal angiomyolipomas (AMLs) and skin angiofibromas, develop over years. Recently, the mTOR inhibitor everolimus was shown to be effective in the treatment of subependymal giant cell astrocytomas (a brain tumor) and renal AMLs… 
View on AAP
pediatrics.aappublications.org
41 Citations
Highly Influential Citations
2
Background Citations
11
Methods Citations
1
Results Citations
1

41 Citations

Citation Type

Citation Type

Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.
  • J. Samuels
  • Medicine
    Clinical journal of the American Society of Nephrology : CJASN
  • 2017
TLDR
Clinical evidence suggests that systemic administration of a mammalian target of rapamycin inhibitor may provide concurrent improvements in multiple lesions and symptoms of tuberous sclerosis complex, and best practices and potential obstacles for nephrologists treating patients with tuberous MS who have multiple manifestations are considered.
Pharmacologic management of tuberous sclerosis complex-associated subependymal giant cell astrocytomas
TLDR
This review provides an overview of TSC and major manifestations of the disease, specifically SEGA, and everolimus, the first FDA-approved mTOR inhibitor for treating TSC, and sirolimus are described in detail.
Everolimus in immunosuppressive treatment after kidney transplantation in a patient with tuberous sclerosis: case report.
Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients
TLDR
For renal angiomyolipoma, mTOR inhibitor treatment fundamentally changed the approach from preventive embolization or even partial nephrectomy to everolimus treatment in order to preserve kidney function.
Emerging treatments and therapeutic targets for tuberous sclerosis complex in children
TLDR
The results of recent studies particularly on epilepsy management including preventive antiepileptic treatment in TSC infants, current studies on cannabidiol, and an increasing role of mTOR inhibitors (sirolimus, everolimus) in the treatment of many TSC manifestations are discussed.
Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012.
Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
  • J. Wheless
  • Medicine, Psychology
    Epilepsy & Behavior Case Reports
  • 2015
Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.
Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex—A Systematic Review
Background: Cardiac rhabdomyomas (CRs) are the earliest sign of tuberous sclerosis complex (TSC). Most of them spontaneously regress after birth. However, multiple and/or large tumors may result in…
Tuberous sclerosis complex: review based on new diagnostic criteria*
TLDR
The diagnostic criteria for tuberous sclerosis were reviewed in 2012, and the diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 19 REFERENCES
Tuberous sclerosis.
TLDR
Identification of the two TS genes should illuminate the pathogenesis of TS and provide opportunities for genetic counseling, prenatal diagnosis, and therapeutic intervention.
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
TLDR
The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.
Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.
TLDR
The therapeutic benefit and limitations of prenatal rapamycin in a prenatal-onset brain model of TSC are demonstrated and the possibility and limits of this approach for TSC infants and mothers are suggested.
Causes of death in patients with tuberous sclerosis.
The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.
TLDR
Combined rapamycin treatment resulted in almost complete histologic rescue, with a well-organized cortex and hippocampus almost identical to control animals, which has important translational implications in the optimization of the timing and dosage of rap amycin treatment in TSC affected children.
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene
TLDR
A case of monozygotic twins with tuberous sclerosis who carry the identical 18-base pair in-frame deletion in their TSC2 gene that was detected by single-strand conformational polymorphism (SSCP) and subsequent sequencing is reported.
Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
TLDR
In patients with subependymal giant cell astrocytomas associated with tuberous sclerosis complex who are not candidates for surgery, single-agent everolimus has demonstrated the ability to significantly reduce SEGA volume with good tolerability.
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
TLDR
Whether rapamycin could prevent or reverse epilepsy, as well as other cellular and molecular brain abnormalities in Tsc1GFAPCKO mice, is tested.
Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex
TLDR
Phenotypic variation within these families may be explained largely as a function of the randomness of second-hit events that cause hamartomas in tuberous sclerosis complex or by as-yet-unidentified genetic modifiers.
Usefulness of Diagnostic Criteria of Tuberous Sclerosis Complex in Pediatric Patients
TLDR
The Tuberous Sclerosis Complex 1998 Consensus Conference clinical criteria represent an important advance in the diagnosis of tuberous sclerosis complex and physicians should be alerted as to the frequency of the criteria in different stages of children.
...
1
2
...