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Child's Nervous System
Published in: Child's Nervous System 10/2020

01-10-2020 | Hamartoma | Annual issue paper

Genetics of tuberous sclerosis complex: an update

Author: Daphna Marom

Published in: Child's Nervous System | Issue 10/2020

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Abstract

Purpose

To review the current genetic aspects of tuberous sclerosis complex.

Methods

Review of the literature.

Results

Tuberous sclerosis complex (TSC), a long known childhood-onset monogenic disorder, characterized by hamartoma formation affecting mainly the brain, heart, kidney, lung, and skin, is associated with a high morbidity burden and risk of a reduced life span. The identification of TSC1 and TSC2, as tumor suppressor genes causative of the disorder, led to the elucidation of the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway and its pivotal role in the pathogenesis of hamartoma formation. This knowledge was translated into standard clinical practice with the discovery of rapamycin, and additional analogues, as inhibitors of mTORC1.

Conclusion

Next-generation sequencing was proven to be fundamental to drive research of tumorigenesis in TSC, hopefully leading to new therapeutic options in the future.
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Metadata
Title
Genetics of tuberous sclerosis complex: an update
Author
Daphna Marom
Publication date
01-10-2020
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 10/2020
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-020-04726-z

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