Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case

Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including ATRX, TP53, and, rarely, BRAF genes. There are only a...

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Detalles Bibliográficos
Autores principales: Marlow, Christine, Cuoco, Joshua A, Hoggarth, Austin R, Stump, Michael S, Apfel, Lisa S, Rogers, Cara M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention-Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088409/
https://www.ncbi.nlm.nih.gov/pubmed/37056711
http://dx.doi.org/10.1177/20363613231168704
Descripción
Sumario:Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including ATRX, TP53, and, rarely, BRAF genes. There are only a few reports to date that have identified BRAF mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the BRAF locus have yet to be described. Here, we present a case of an 11-year-old male with a diffuse hemispheric glioma, H3 G34-mutant, found to have novel gains of the BRAF locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.

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