Novel mutations in diffuse midline gliomas using cost-effective strategies: A report of 2 cases.

Background: Diffuse midline gliomas (DMGs) are malignant tumors predominantly affecting children, often leading to poor outcomes. The 2021 World Health Organization classification identifies 3 subtypes of DMGs, all characterized by the loss of H3K27 trimethylation. Here, we report 2 cases of DMG with Epidermal Growth Factor Receptor () mutations within exon 20, contributing to the understanding of the molecular complexity of these pediatric brain tumors.

Methods: An economical immunohistochemical panel was designed to aid in the diagnosis of most DMGs in resource-constrained regions. Sanger sequencing was employed to identify rare mutations in exon 20 of 2 cases.

Results: Molecular analyses of 2 cases of DMG revealed novel mutations within exon 20. These mutations were identified using cost-effective diagnostic approaches. The presence of mutations expands the molecular landscape of DMGs and highlights the genetic heterogeneity within this tumor entity.

Conclusions: These findings underscore the molecular heterogeneity of DMGs and the significance of identifying novel mutations, such as mutations in exon 20. Further research into the molecular mechanisms underlying DMGs is warranted to advance therapeutic strategies and improve outcomes for pediatric patients.