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Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management

Introduction, Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder caused by mutations inactivating TSC1 or TSC2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. Subependymal giant cell astrocytoma (SEGA) is a slow-...

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Autores principales: Gao, Chao, Zabielska, Bernadeta, Jiao, Fuyong, Mei, Daoqi, Wang, Xiaona, Kotulska, Katarzyna, Jozwiak, Sergiusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917805/
https://www.ncbi.nlm.nih.gov/pubmed/36769603
http://dx.doi.org/10.3390/jcm12030956
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author Gao, Chao
Zabielska, Bernadeta
Jiao, Fuyong
Mei, Daoqi
Wang, Xiaona
Kotulska, Katarzyna
Jozwiak, Sergiusz
author_facet Gao, Chao
Zabielska, Bernadeta
Jiao, Fuyong
Mei, Daoqi
Wang, Xiaona
Kotulska, Katarzyna
Jozwiak, Sergiusz
author_sort Gao, Chao
collection PubMed
description Introduction, Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder caused by mutations inactivating TSC1 or TSC2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. Subependymal giant cell astrocytoma (SEGA) is a slow-growing brain tumor almost exclusively associated with TSC. State of the Art: Despite the fact that SEGAs are benign, they require well-considered decisions regarding the timing and modality of pharmacological or surgical treatment. In TSC children and adolescents, SEGA is the major cause of mortality and morbidity. Clinical Implications: Until recently, surgical resection has been the standard therapy for SEGAs but the discovery of the role of the mTOR pathway and the introduction of mTOR inhibitors to clinical practice changed the therapeutic landscape of these tumors. In the current paper, we discuss the pros and cons of mTOR inhibitors and surgical approaches in SEGA treatment. Future Directions: In 2021, the International Tuberous Sclerosis Complex Consensus Group proposed a new integrative strategy for SEGA management. In the following review, we discuss the proposed recommendations and report the results of the literature search for the latest treatment directions.
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spelling pubmed-99178052023-02-11 Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management Gao, Chao Zabielska, Bernadeta Jiao, Fuyong Mei, Daoqi Wang, Xiaona Kotulska, Katarzyna Jozwiak, Sergiusz J Clin Med Review Introduction, Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder caused by mutations inactivating TSC1 or TSC2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. Subependymal giant cell astrocytoma (SEGA) is a slow-growing brain tumor almost exclusively associated with TSC. State of the Art: Despite the fact that SEGAs are benign, they require well-considered decisions regarding the timing and modality of pharmacological or surgical treatment. In TSC children and adolescents, SEGA is the major cause of mortality and morbidity. Clinical Implications: Until recently, surgical resection has been the standard therapy for SEGAs but the discovery of the role of the mTOR pathway and the introduction of mTOR inhibitors to clinical practice changed the therapeutic landscape of these tumors. In the current paper, we discuss the pros and cons of mTOR inhibitors and surgical approaches in SEGA treatment. Future Directions: In 2021, the International Tuberous Sclerosis Complex Consensus Group proposed a new integrative strategy for SEGA management. In the following review, we discuss the proposed recommendations and report the results of the literature search for the latest treatment directions. MDPI 2023-01-26 /pmc/articles/PMC9917805/ /pubmed/36769603 http://dx.doi.org/10.3390/jcm12030956 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Gao, Chao
Zabielska, Bernadeta
Jiao, Fuyong
Mei, Daoqi
Wang, Xiaona
Kotulska, Katarzyna
Jozwiak, Sergiusz
Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title_full Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title_fullStr Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title_full_unstemmed Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title_short Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management
title_sort subependymal giant cell astrocytomas in tuberous sclerosis complex—current views on their pathogenesis and management
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917805/
https://www.ncbi.nlm.nih.gov/pubmed/36769603
http://dx.doi.org/10.3390/jcm12030956
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