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LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report

Subependymal giant cell astrocytomas (SEGAs) are circumscribed gliomas strongly associated with tuberous sclerosis (TS). TS, a rare genetic disorder caused by inactivating mutations in either of the TSC genes (TSC1/2), leads to upregulation of the mTOR pathway and consecutive cell growth. CNS manife...

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Autores principales: Quinot, Valerie Anne, Rössler, Karl, Feucht, Martha, Kasprian, Gregor, Gelpi, Ellen, Haberler, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165076/
http://dx.doi.org/10.1093/neuonc/noac079.361
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author Quinot, Valerie Anne
Rössler, Karl
Feucht, Martha
Kasprian, Gregor
Gelpi, Ellen
Haberler, Christine
author_facet Quinot, Valerie Anne
Rössler, Karl
Feucht, Martha
Kasprian, Gregor
Gelpi, Ellen
Haberler, Christine
author_sort Quinot, Valerie Anne
collection PubMed
description Subependymal giant cell astrocytomas (SEGAs) are circumscribed gliomas strongly associated with tuberous sclerosis (TS). TS, a rare genetic disorder caused by inactivating mutations in either of the TSC genes (TSC1/2), leads to upregulation of the mTOR pathway and consecutive cell growth. CNS manifestations other than SEGAs include cortical tubers, white matter glioneuronal hamartomas and subependymal nodules (SENs), which, although regarded as distinct morphological phenotypes, share certain histological characteristics including ballooned astrocytes and giant ganglion-like cells. SEGAs, thought to develop from the median ganglionic eminence (MGE), are most commonly located periventricularly. However, rare cases of extraventricular SEGAs have been reported. We report a case of a cortico-subcortically located SEGA in a TS patient. A two-month-old female TS patient with multiple cortical tubers presented with treatment-resistant epilepsy. A 4cm sized tuber located in the right temporal lobe, showing a transmantle sign on MRI but no typical imaging appearance of SEGA, was surgically resected. Histological evaluation revealed typical morphological characteristics of a tuber with dysmorphic neurons, balloon cells and calcifications in the cortex and adjacent white matter. Focally, a cortico-subcortically located, well delineated area with increased cellularity and morphological features of a SEGA was found. Single mitotic figures were detectable. Immunhistochemically, these cells were strongly positive for GFAP, vimentin, and nestin. Scattered S100-, NeuN-, MAP2- and SMI32-positive cells were present. No expression of class-III-b-tubulin and TTF1a was found. pS6 was expressed in a small fraction of cells. CD34 showed a dense capillary network within the lesion. This case is consistent with prior case reports of SEGA-tissue in tubers of TS patients. However, the SEGA tissue of this case did not display TTF1a-expression, characteristic for SEGAs and considered as a marker for cells originating from the MGE, thus implying a different cellular lineage.
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spelling pubmed-91650762022-06-05 LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report Quinot, Valerie Anne Rössler, Karl Feucht, Martha Kasprian, Gregor Gelpi, Ellen Haberler, Christine Neuro Oncol Low Grade Glioma Subependymal giant cell astrocytomas (SEGAs) are circumscribed gliomas strongly associated with tuberous sclerosis (TS). TS, a rare genetic disorder caused by inactivating mutations in either of the TSC genes (TSC1/2), leads to upregulation of the mTOR pathway and consecutive cell growth. CNS manifestations other than SEGAs include cortical tubers, white matter glioneuronal hamartomas and subependymal nodules (SENs), which, although regarded as distinct morphological phenotypes, share certain histological characteristics including ballooned astrocytes and giant ganglion-like cells. SEGAs, thought to develop from the median ganglionic eminence (MGE), are most commonly located periventricularly. However, rare cases of extraventricular SEGAs have been reported. We report a case of a cortico-subcortically located SEGA in a TS patient. A two-month-old female TS patient with multiple cortical tubers presented with treatment-resistant epilepsy. A 4cm sized tuber located in the right temporal lobe, showing a transmantle sign on MRI but no typical imaging appearance of SEGA, was surgically resected. Histological evaluation revealed typical morphological characteristics of a tuber with dysmorphic neurons, balloon cells and calcifications in the cortex and adjacent white matter. Focally, a cortico-subcortically located, well delineated area with increased cellularity and morphological features of a SEGA was found. Single mitotic figures were detectable. Immunhistochemically, these cells were strongly positive for GFAP, vimentin, and nestin. Scattered S100-, NeuN-, MAP2- and SMI32-positive cells were present. No expression of class-III-b-tubulin and TTF1a was found. pS6 was expressed in a small fraction of cells. CD34 showed a dense capillary network within the lesion. This case is consistent with prior case reports of SEGA-tissue in tubers of TS patients. However, the SEGA tissue of this case did not display TTF1a-expression, characteristic for SEGAs and considered as a marker for cells originating from the MGE, thus implying a different cellular lineage. Oxford University Press 2022-06-03 /pmc/articles/PMC9165076/ http://dx.doi.org/10.1093/neuonc/noac079.361 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Low Grade Glioma
Quinot, Valerie Anne
Rössler, Karl
Feucht, Martha
Kasprian, Gregor
Gelpi, Ellen
Haberler, Christine
LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title_full LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title_fullStr LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title_full_unstemmed LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title_short LGG-49. Subependymal giant cell astrocytoma associated with a cortical tuber: A case report
title_sort lgg-49. subependymal giant cell astrocytoma associated with a cortical tuber: a case report
topic Low Grade Glioma
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165076/
http://dx.doi.org/10.1093/neuonc/noac079.361
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