RESUMO
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.