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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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
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author Marlow, Christine
Cuoco, Joshua A
Hoggarth, Austin R
Stump, Michael S
Apfel, Lisa S
Rogers, Cara M
author_facet Marlow, Christine
Cuoco, Joshua A
Hoggarth, Austin R
Stump, Michael S
Apfel, Lisa S
Rogers, Cara M
author_sort Marlow, Christine
collection PubMed
description 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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spelling pubmed-100884092023-04-12 Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case Marlow, Christine Cuoco, Joshua A Hoggarth, Austin R Stump, Michael S Apfel, Lisa S Rogers, Cara M Rare Tumors Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention-Case Report 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. SAGE Publications 2023-04-07 /pmc/articles/PMC10088409/ /pubmed/37056711 http://dx.doi.org/10.1177/20363613231168704 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention-Case Report
Marlow, Christine
Cuoco, Joshua A
Hoggarth, Austin R
Stump, Michael S
Apfel, Lisa S
Rogers, Cara M
Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title_full Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title_fullStr Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title_full_unstemmed Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title_short Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case
title_sort pediatric diffuse hemispheric glioma h3 g34-mutant with gains of the braf locus: an illustrative case
topic Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention-Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088409/
https://www.ncbi.nlm.nih.gov/pubmed/37056711
http://dx.doi.org/10.1177/20363613231168704
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