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17-06-2024 | Glioma | Mini Review

Pediatric-type diffuse low-grade glioma with T2-FLAIR mismatch sign: a case report and literature review

Authors: Jia-Ching Hwa, Alex Mun-Ching Wong, Shih-Ming Jung, Chieh-Tsai Wu

Published in: Child's Nervous System

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Abstract

Introduction

Pediatric-type diffuse low-grade gliomas are a new entity that was introduced in the fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, which was published in 2021. Notably, the information regarding the radiophenotypes of this new entity is limited.

Objective

T2-FLAIR mismatch sign has been mostly studied in adult-type diffuse gliomas so far. We aimed to present more pediatric cases for future research about T2-FLAIR mismatch signs in pediatric-type diffuse low-grade gliomas.

Case presentation

The current study presents a case of a 2-year-old boy who has a subcortical tumor at the right precentral frontal region. This tumor exhibited a T2-fluid-attenuated inversion recovery (FLAIR) mismatch sign that was identified as specific for isocitrate dehydrogenase (IDH)-mutant 1p/19q non-co-deleted astrocytomas. The tumor was pathologically identified as pediatric-type diffuse low-grade gliomas, and it tested negative for IDH-1 immunohistochemistry. The whole-exome sequencing of tumor tissue revealed negative results for IDH mutation, 1p/19q co-deletion, MYB rearrangement, and all other potential pathogenic mutations.

Conclusion

The T2-FLAIR mismatch sign may not be 100% specific for IDH-mutant gliomas, especially in children, and researchers must further investigate the pathophysiology of the T2-FLAIR mismatch sign in brain tumors and the radiophenotypes of entities of pediatric brain tumors.
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Metadata
Title
Pediatric-type diffuse low-grade glioma with T2-FLAIR mismatch sign: a case report and literature review
Authors
Jia-Ching Hwa
Alex Mun-Ching Wong
Shih-Ming Jung
Chieh-Tsai Wu
Publication date
17-06-2024
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-024-06487-5