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01-04-2021 | Astrocytoma | Case Report

A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration

Authors: Mario Suzuki, Akihide Kondo, Ikuko Ogino, Osamu Akiyama, Naohide Fujita, Yuzaburo Shimizu, Hajime Arai

Published in: Child's Nervous System | Issue 4/2021

Abstract

We report a case of subependymal giant cell astrocytoma (SEGA) with anaplastic histological features in a 3-year-old girl. She had no clinical manifestations of tuberous sclerosis complex (TSC) and no relevant family history. A few cases have been reported in which patients with SEGA had no other clinical manifestations of TSC (solitary SEGA). Genetic analysis using a blood sample from the patient showed no germline alterations in TSC1 or TSC2 genes, while the tumor tissue exhibited loss of heterozygosity (LOH) in TSC2. SEGAs are benign, slowly growing tumors that rarely have significant mitotic activity. However, histopathological examination in the present case revealed high mitotic activity and necrosis besides the typical large plump cells arranged in sheets. This may be the first genetically proven case of a solitary SEGA with histopathological anaplastic features. In this report, we reviewed solitary SEGAs and histopathological malignancy in SEGA.

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Title: A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration
Authors: Mario Suzuki
Akihide Kondo
Ikuko Ogino
Osamu Akiyama
Naohide Fujita
Yuzaburo Shimizu
Hajime Arai
Publication date: 01-04-2021
Publisher: Springer Berlin Heidelberg
Keywords: Astrocytoma
Tuberous Sclerosis
Astrocytoma
Astrocytoma
Published in: Child's Nervous System / Issue 4/2021
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-020-04839-5

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A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration

Abstract

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Springer Medicine

Abstract

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